Polycystic kidney disease
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This document discusses polycystic kidney disease (PKD), a genetic disorder where cysts form on the kidneys. There are two types - autosomal dominant PKD, which usually develops later in life and is more common, and autosomal recessive PKD, which develops in childhood. Symptoms include abdominal pain and tenderness, blood in the urine, and high blood pressure. The condition is diagnosed using scans to detect cysts on the kidneys. Treatment focuses on managing symptoms through medication and potentially surgery if cysts become problematic.
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Adult polycystic kidney disease
A 78-year-old patient presented with a history of hypertension and renal failure. Ultrasound showed enlarged kidneys with multiple cysts in both kidneys. The patient was diagnosed with autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by growth of numerous cysts in both kidneys that can lead to kidney failure. ADPKD is caused by mutations in genes PKD1 or PKD2 and symptoms include back pain, headaches, and kidney cysts that worsen over time, eventually causing renal failure in around 50% of patients by age 60 if left untreated.
Autosomal Dominant Polycystic Kidney Disease
1. Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple bilateral renal cysts and cysts in other organs caused by mutations in PKD1 and PKD2 genes.
2. The renal cysts enlarge over time, ultimately leading to renal failure in half of patients by age 60.
3. Treatment focuses on controlling blood pressure, treating infections, reducing pain, and delaying renal failure through medications such as ACE inhibitors or ARBs.
Polycystic Kidney disease
Subset of renal cystic disorders in which cysts are distributed throughtout the cortex and medulla of both kidneys.
Polycystic kidney disease
POLYCYSTIC KIDNEY DISEASE
Acquired Cystic Kidney Disease (also called ACKD)
Infantile or Autosomal Recessive PKD (also called ARPKD)
Autosomal Dominant PKD (also called PKD or ADPKD)
Signs and Symptoms
Diagnosis
Treatment
Prevention
Polycystic Kidney Disease
This document provides an overview of polycystic kidney disease (PKD), including a history, introduction to the different types (autosomal dominant and recessive), pathophysiology, diagnostic tests and treatments. It discusses the first known case in the 16th century Polish king and subsequent studies defining it as a clinical entity. The two main types are described in more detail, focusing on genetics, characteristics and management. A case study is presented of a 42-year old female diagnosed with autosomal dominant PKD who underwent genetic testing identifying a heterozygous nonsense mutation.
Polycystic kidney disease
Urinary tract infections are caused by bacteria like E. coli entering the urinary tract. Women are more prone to UTIs, which can affect the urethra, bladder, ureters or kidneys. Common symptoms include urgency, frequent urination and abdominal or back pain. Diagnosis involves testing a urine sample for bacteria and white blood cells. Left untreated, UTIs during pregnancy can travel to the kidneys due to hormonal changes. Proper treatment uses antibiotics to resolve the infection.
polycystic kidney disease
The document discusses polycystic kidney disease (PKD), which is an inherited disorder characterized by the growth of numerous cysts in the kidneys. There are three main types of PKD - autosomal dominant PKD, autosomal recessive PKD, and acquired cystic kidney disease. Autosomal dominant PKD is the most common, accounting for 90% of cases and caused by mutations in the PKD1 or PKD2 genes. Autosomal recessive PKD is rare and caused by mutations in the PKHD1 gene. Symptoms can range from high blood pressure to kidney failure. Treatments aim to control complications through medication and dialysis, with kidney transplantation as an option.
Polycystic kidney disease (PCKD)
This document discusses polycystic kidney disease (PKD). It describes PKD as a common hereditary disease characterized by the development of multiple renal cysts. There are two forms: autosomal recessive PKD which is fatal in infancy, and autosomal dominant PKD which is more common and can lead to end stage renal disease in around 50% of cases by age 60. The document provides details on the clinical features, investigations, and management of autosomal dominant PKD.
Recommended
Adult polycystic kidney disease
A 78-year-old patient presented with a history of hypertension and renal failure. Ultrasound showed enlarged kidneys with multiple cysts in both kidneys. The patient was diagnosed with autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by growth of numerous cysts in both kidneys that can lead to kidney failure. ADPKD is caused by mutations in genes PKD1 or PKD2 and symptoms include back pain, headaches, and kidney cysts that worsen over time, eventually causing renal failure in around 50% of patients by age 60 if left untreated.
Autosomal Dominant Polycystic Kidney Disease
1. Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple bilateral renal cysts and cysts in other organs caused by mutations in PKD1 and PKD2 genes.
2. The renal cysts enlarge over time, ultimately leading to renal failure in half of patients by age 60.
3. Treatment focuses on controlling blood pressure, treating infections, reducing pain, and delaying renal failure through medications such as ACE inhibitors or ARBs.
Polycystic Kidney disease
Subset of renal cystic disorders in which cysts are distributed throughtout the cortex and medulla of both kidneys.
Polycystic kidney disease
POLYCYSTIC KIDNEY DISEASE
Acquired Cystic Kidney Disease (also called ACKD)
Infantile or Autosomal Recessive PKD (also called ARPKD)
Autosomal Dominant PKD (also called PKD or ADPKD)
Signs and Symptoms
Diagnosis
Treatment
Prevention
Polycystic Kidney Disease
This document provides an overview of polycystic kidney disease (PKD), including a history, introduction to the different types (autosomal dominant and recessive), pathophysiology, diagnostic tests and treatments. It discusses the first known case in the 16th century Polish king and subsequent studies defining it as a clinical entity. The two main types are described in more detail, focusing on genetics, characteristics and management. A case study is presented of a 42-year old female diagnosed with autosomal dominant PKD who underwent genetic testing identifying a heterozygous nonsense mutation.
Polycystic kidney disease
Urinary tract infections are caused by bacteria like E. coli entering the urinary tract. Women are more prone to UTIs, which can affect the urethra, bladder, ureters or kidneys. Common symptoms include urgency, frequent urination and abdominal or back pain. Diagnosis involves testing a urine sample for bacteria and white blood cells. Left untreated, UTIs during pregnancy can travel to the kidneys due to hormonal changes. Proper treatment uses antibiotics to resolve the infection.
polycystic kidney disease
The document discusses polycystic kidney disease (PKD), which is an inherited disorder characterized by the growth of numerous cysts in the kidneys. There are three main types of PKD - autosomal dominant PKD, autosomal recessive PKD, and acquired cystic kidney disease. Autosomal dominant PKD is the most common, accounting for 90% of cases and caused by mutations in the PKD1 or PKD2 genes. Autosomal recessive PKD is rare and caused by mutations in the PKHD1 gene. Symptoms can range from high blood pressure to kidney failure. Treatments aim to control complications through medication and dialysis, with kidney transplantation as an option.
Polycystic kidney disease (PCKD)
This document discusses polycystic kidney disease (PKD). It describes PKD as a common hereditary disease characterized by the development of multiple renal cysts. There are two forms: autosomal recessive PKD which is fatal in infancy, and autosomal dominant PKD which is more common and can lead to end stage renal disease in around 50% of cases by age 60. The document provides details on the clinical features, investigations, and management of autosomal dominant PKD.
Adult polycystic kidney disease
Adult polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys and other organs. It is caused by mutations in one of two genes, PKD1 or PKD2, and affects around 1 in 1000 people. Symptoms include back or abdominal pain, hematuria, and hypertension. Extrarenal manifestations include cysts in the liver and pancreas as well as cerebral and coronary artery aneurysms. Diagnosis is made based on imaging and family history. While there is no cure, treatment focuses on slowing disease progression, managing complications like hypertension, and renal replacement therapy for end-stage renal disease.
Cystic diseases of the kidney in children
Cystic kidney diseases in children can be genetic or non-genetic in origin. Genetic causes include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis, and glomerulocystic kidney disease. Non-genetic causes include simple cysts, multicystic dysplastic kidney, acquired cysts, and caliceal cysts. Ultrasound is the primary imaging modality used for diagnosis. ARPKD is the most severe genetic cause, occurring in 1 in 50,000, and is characterized by cystic dilatation of the collecting tubules affecting both kidneys
Poly cystic kidney disease
This document discusses polycystic kidney disease (PKD), specifically autosomal dominant polycystic kidney disease (ADPKD). It defines ADPKD as a genetic disorder caused by mutations in PKD1 and PKD2 genes, characterized by multiple bilateral renal cysts and cysts in other organs. Symptoms may include abdominal or flank pain, hematuria, hypertension, enlarged kidneys with nodular surfaces, and liver cysts. Diagnosis involves family history, clinical examination, and ultrasound evaluation of the kidneys. While there is no specific treatment, management focuses on blood pressure control, treating infections, reducing pain, and renal replacement therapies like dialysis or transplantation for end-stage renal disease.
Autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by progressive kidney enlargement and varying degrees of liver abnormalities. It is caused by mutations in the PKHD1 gene and results in abnormalities in the kidney and liver collecting ducts. Clinically, ARPKD presents in early childhood with flank masses, hypertension, urinary concentration defects, and can lead to renal insufficiency. On pathology, the kidneys appear sponge-like with multiple small cysts radiating from the medulla to cortex. There is no known family history of the disease as it is transmitted through an autosomal recessive trait.
Polycystic Kidney Disease (PKD)
Polycystic disease of the kidney (PKD) is a disorder in which major portion of the renal parenchyma is converted into cysts of varying size .
Fluid-filled cysts distributed over the kidney results in massive enlargement of the kidneys.
Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple bilateral renal cysts that can lead to kidney failure, with mutations in two genes causing cyst formation through disordered polycystin function; it commonly causes hypertension, pain, infection, and kidney failure and can involve the liver and other organs; management focuses on slowing progression through blood pressure control, pain management, and potentially targeting the renin-angiotensin system or mTOR pathway.
Polycystic kidney disease
Polycystic kidney disease can be autosomal dominant or recessive. Autosomal dominant PKD is caused by mutations that result in multiple bilateral cysts in the kidneys and liver, and those with a parent with the disease have a 50% chance of developing it. Diagnosis involves family history, imaging showing cysts, and ultrasound or MRI. There is no treatment to prevent cyst growth, but blood pressure and infections should be controlled. Autosomal recessive PKD requires both parents to have the disease, and is diagnosed through ultrasound showing large cystic kidneys and liver fibrosis. Treatment focuses on intensive care, dialysis, and transplantation as survival into adulthood is now possible.
Arpkd
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is caused by mutations in the PKHD1 gene and results in cyst formation in the kidneys and congenital hepatic fibrosis. It occurs in about 1 in 20,000 live births. The condition is characterized by rapid enlargement of the kidneys in infants due to cysts in the collecting ducts. This can lead to complications like congestive heart failure. While some infants may die shortly after birth, those who survive can have improved outcomes with 5-year survival rates around 85%. Treatment focuses on management of symptoms like hypertension and electrolyte imbalances.
Autosomal dominant polycystic kidney disease (adpkd)
- Autosomal dominant polycystic kidney disease (ADPKD) is characterized by multiple bilateral renal cysts that lead to kidney enlargement and failure. It has a prevalence of 1 in 400 to 1000 live births.
- The disease is caused by mutations in the PKD1 and PKD2 genes which code for polycystin proteins 1 and 2. These proteins are involved in cellular signaling pathways regulating cell proliferation and adhesion. Loss of function of these proteins results in focal cyst formation in the kidneys.
- Current treatments aim to slow cyst growth and decline in kidney function. Vasopressin receptor antagonists like tolvaptan have shown some efficacy in reducing total kidney volume increase in
Cystic disease of the kidney
There are many different types of kidney cysts that can be classified in various ways. An ideal classification system would take into account morphological features, pathogenesis, and therapeutic potential. Autosomal dominant polycystic kidney disease (ADPKD) is the most common cystic kidney disease and is characterized by multiple bilateral cysts of varying sizes in the kidneys and liver. It has a prevalence of 1 in 400 to 1,000 people and is caused by mutations in the PKD1 or PKD2 genes.
Cystic diseases of kidney
Cystic diseases of the kidney can be inherited and include simple cysts, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is characterized by multiple expanding cysts that destroy kidney parenchyma over time, eventually leading to kidney failure. The cysts are caused by inherited mutations and cause enlarged palpable kidneys filled with fluid-filled cysts. ARPKD presents in children with numerous small cysts throughout the cortex and medulla giving the kidneys a sponge-like appearance.
Polycystic kidney disease
Polycystic kidney disease is a genetic disorder characterized by the growth of several cysts in the kidneys.
Pedi gu review cystic disease i
The document discusses various pediatric renal cystic diseases including their definitions, categories, genetics, presentations, associations, and management. Multicystic dysplastic kidney is defined as involving the entire kidney with primitive ducts and cysts present from early development. It is the renal cystic condition that arises prior to nephron formation.
Cysts of kidney
This document discusses different types of kidney cysts. It identifies 5 main classifications: 1) Cystic Renal Dysplasia, which involves abnormal development leading to enlarged kidneys with varied sized cysts; 2) Polycystic Renal Disease, which can be autosomal dominant or recessive, causing multiple cysts through genetic defects affecting cell differentiation; 3) Medullary Cystic Disease, involving cysts in the kidney medulla due to defects in 3 genes leading to fibrosis; 4) Acquired/Dialysis Associated Cystic Disease, where numerous cortical and medullary cysts develop in patients on long-term dialysis due to tubular obstruction; and 5) Simple Cyst
Cystic diseases of kidney
This document discusses cystic diseases of the kidney. It describes different types of kidney cysts including polycystic kidney disease. Autosomal dominant polycystic kidney disease is the most common type and is caused by mutations in the PKD1 or PKD2 genes. It is characterized by bilateral enlargement of the kidneys due to multiple fluid-filled cysts. Symptoms may include pain, hematuria, and signs of chronic kidney disease. The document also discusses other cystic conditions like autosomal recessive polycystic kidney disease, medullary cystic kidney disease, and multicyctic renal dysplasia.
Cystic kidney diseases
This document provides definitions and overview of various cystic kidney diseases including simple cysts, autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), acquired cystic kidney disease, Alport's syndrome, medullary sponge kidney, medullary cystic kidney disease, and renal phacomatosis associated with tuberous sclerosis and Von Hippel-Lindau disease. It describes the clinical features, pathogenesis, diagnosis, and management of these conditions.
Medullary sponge kidney (msk)
Medullary sponge kidney (MSK), also known as Cacchi-Ricci disease, is a congenital disorder characterized by irregular cystic dilatation of the medullary and collecting ducts in the kidneys, giving them a Swiss cheese appearance. Patients are at increased risk for kidney stones and urinary tract infections. While often asymptomatic, symptomatic patients typically present in middle age with renal colic, nephrolithiasis, or recurrent UTIs. Diagnosis is made using renal ultrasound, IV urography, or CT scan. There is no cure, but treatment focuses on preventing stone formation and treating UTIs.
Cystic renal diseases
This document discusses various renal cystic diseases and conditions. It covers cortical and medullary cysts, polycystic kidney disease, multicystic renal dysplasia and extra-parenchymal cysts. Autosomal dominant polycystic kidney disease is described as the most common hereditary cystic renal disease affecting 1 in 1000 people typically in the third decade of life. Imaging findings for simple cysts, polycystic kidney disease, multicystic renal dysplasia and extrarenal cysts on ultrasound, intravenous urography, CT and MRI are summarized.
Polycystic kidney disease for students
Polycystic kidney disease is caused by mutations in genes located on chromosomes 16p13.3 and 4q21. The kidneys become massively enlarged due to the growth of multiple cysts filled with fluid. Patients may be asymptomatic for years until renal insufficiency develops. Symptoms can include pain, bleeding, and high blood pressure as the cysts enlarge and damage the kidney tissue. Complications include liver and heart cysts as well as brain aneurysms. While the condition progresses slowly over decades, it ultimately leads to kidney failure and often death from heart or brain related issues.
Multi cystic dysplastic kidney (renal dysplasia)
Multicystic dysplastic kidney (MCDK) is a congenital abnormality characterized by multiple cysts replacing renal parenchyma. It results from ureteric bud obstruction during fetal development. Unilateral MCDK is usually asymptomatic and detected incidentally, while bilateral MCDK is fatal due to end-stage renal disease. Diagnosis is made using ultrasound and DMSA renal scan showing nonfunctional cystic kidneys. Treatment involves monitoring unilateral cases and supportive care for bilateral cases.
Natural Herbs For Polycystic Kidney Disease
Polycystic Kidney Disease can now be avoided and its existence can be eradicated with the help of a herbal formula designed after a watchful research done on the herbs that can rightly gel well together to fight this dangerous kidney ailment.
Amyloidosis
This document discusses amyloidosis, which is the extracellular deposition of fibrillar proteinaceous substances that have similar morphological appearances and staining properties but different chemical structures. It describes how amyloidosis was first described in 1842 and named by Virchow. The key components of amyloid fibrils are discussed as well as the mechanisms of amyloid formation and deposition. Important details on the morphology, sites of involvement like the kidney and spleen, and clinical manifestations are provided.
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Adult polycystic kidney disease
Adult polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys and other organs. It is caused by mutations in one of two genes, PKD1 or PKD2, and affects around 1 in 1000 people. Symptoms include back or abdominal pain, hematuria, and hypertension. Extrarenal manifestations include cysts in the liver and pancreas as well as cerebral and coronary artery aneurysms. Diagnosis is made based on imaging and family history. While there is no cure, treatment focuses on slowing disease progression, managing complications like hypertension, and renal replacement therapy for end-stage renal disease.
Cystic diseases of the kidney in children
Cystic kidney diseases in children can be genetic or non-genetic in origin. Genetic causes include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), juvenile nephronophthisis, and glomerulocystic kidney disease. Non-genetic causes include simple cysts, multicystic dysplastic kidney, acquired cysts, and caliceal cysts. Ultrasound is the primary imaging modality used for diagnosis. ARPKD is the most severe genetic cause, occurring in 1 in 50,000, and is characterized by cystic dilatation of the collecting tubules affecting both kidneys
Poly cystic kidney disease
This document discusses polycystic kidney disease (PKD), specifically autosomal dominant polycystic kidney disease (ADPKD). It defines ADPKD as a genetic disorder caused by mutations in PKD1 and PKD2 genes, characterized by multiple bilateral renal cysts and cysts in other organs. Symptoms may include abdominal or flank pain, hematuria, hypertension, enlarged kidneys with nodular surfaces, and liver cysts. Diagnosis involves family history, clinical examination, and ultrasound evaluation of the kidneys. While there is no specific treatment, management focuses on blood pressure control, treating infections, reducing pain, and renal replacement therapies like dialysis or transplantation for end-stage renal disease.
Autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by progressive kidney enlargement and varying degrees of liver abnormalities. It is caused by mutations in the PKHD1 gene and results in abnormalities in the kidney and liver collecting ducts. Clinically, ARPKD presents in early childhood with flank masses, hypertension, urinary concentration defects, and can lead to renal insufficiency. On pathology, the kidneys appear sponge-like with multiple small cysts radiating from the medulla to cortex. There is no known family history of the disease as it is transmitted through an autosomal recessive trait.
Polycystic Kidney Disease (PKD)
Polycystic disease of the kidney (PKD) is a disorder in which major portion of the renal parenchyma is converted into cysts of varying size .
Fluid-filled cysts distributed over the kidney results in massive enlargement of the kidneys.
Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by multiple bilateral renal cysts that can lead to kidney failure, with mutations in two genes causing cyst formation through disordered polycystin function; it commonly causes hypertension, pain, infection, and kidney failure and can involve the liver and other organs; management focuses on slowing progression through blood pressure control, pain management, and potentially targeting the renin-angiotensin system or mTOR pathway.
Polycystic kidney disease
Polycystic kidney disease can be autosomal dominant or recessive. Autosomal dominant PKD is caused by mutations that result in multiple bilateral cysts in the kidneys and liver, and those with a parent with the disease have a 50% chance of developing it. Diagnosis involves family history, imaging showing cysts, and ultrasound or MRI. There is no treatment to prevent cyst growth, but blood pressure and infections should be controlled. Autosomal recessive PKD requires both parents to have the disease, and is diagnosed through ultrasound showing large cystic kidneys and liver fibrosis. Treatment focuses on intensive care, dialysis, and transplantation as survival into adulthood is now possible.
Arpkd
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is caused by mutations in the PKHD1 gene and results in cyst formation in the kidneys and congenital hepatic fibrosis. It occurs in about 1 in 20,000 live births. The condition is characterized by rapid enlargement of the kidneys in infants due to cysts in the collecting ducts. This can lead to complications like congestive heart failure. While some infants may die shortly after birth, those who survive can have improved outcomes with 5-year survival rates around 85%. Treatment focuses on management of symptoms like hypertension and electrolyte imbalances.
Autosomal dominant polycystic kidney disease (adpkd)
- Autosomal dominant polycystic kidney disease (ADPKD) is characterized by multiple bilateral renal cysts that lead to kidney enlargement and failure. It has a prevalence of 1 in 400 to 1000 live births.
- The disease is caused by mutations in the PKD1 and PKD2 genes which code for polycystin proteins 1 and 2. These proteins are involved in cellular signaling pathways regulating cell proliferation and adhesion. Loss of function of these proteins results in focal cyst formation in the kidneys.
- Current treatments aim to slow cyst growth and decline in kidney function. Vasopressin receptor antagonists like tolvaptan have shown some efficacy in reducing total kidney volume increase in
Cystic disease of the kidney
There are many different types of kidney cysts that can be classified in various ways. An ideal classification system would take into account morphological features, pathogenesis, and therapeutic potential. Autosomal dominant polycystic kidney disease (ADPKD) is the most common cystic kidney disease and is characterized by multiple bilateral cysts of varying sizes in the kidneys and liver. It has a prevalence of 1 in 400 to 1,000 people and is caused by mutations in the PKD1 or PKD2 genes.
Cystic diseases of kidney
Cystic diseases of the kidney can be inherited and include simple cysts, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is characterized by multiple expanding cysts that destroy kidney parenchyma over time, eventually leading to kidney failure. The cysts are caused by inherited mutations and cause enlarged palpable kidneys filled with fluid-filled cysts. ARPKD presents in children with numerous small cysts throughout the cortex and medulla giving the kidneys a sponge-like appearance.
Polycystic kidney disease
Polycystic kidney disease is a genetic disorder characterized by the growth of several cysts in the kidneys.
Pedi gu review cystic disease i
The document discusses various pediatric renal cystic diseases including their definitions, categories, genetics, presentations, associations, and management. Multicystic dysplastic kidney is defined as involving the entire kidney with primitive ducts and cysts present from early development. It is the renal cystic condition that arises prior to nephron formation.
Cysts of kidney
This document discusses different types of kidney cysts. It identifies 5 main classifications: 1) Cystic Renal Dysplasia, which involves abnormal development leading to enlarged kidneys with varied sized cysts; 2) Polycystic Renal Disease, which can be autosomal dominant or recessive, causing multiple cysts through genetic defects affecting cell differentiation; 3) Medullary Cystic Disease, involving cysts in the kidney medulla due to defects in 3 genes leading to fibrosis; 4) Acquired/Dialysis Associated Cystic Disease, where numerous cortical and medullary cysts develop in patients on long-term dialysis due to tubular obstruction; and 5) Simple Cyst
Cystic diseases of kidney
This document discusses cystic diseases of the kidney. It describes different types of kidney cysts including polycystic kidney disease. Autosomal dominant polycystic kidney disease is the most common type and is caused by mutations in the PKD1 or PKD2 genes. It is characterized by bilateral enlargement of the kidneys due to multiple fluid-filled cysts. Symptoms may include pain, hematuria, and signs of chronic kidney disease. The document also discusses other cystic conditions like autosomal recessive polycystic kidney disease, medullary cystic kidney disease, and multicyctic renal dysplasia.
Cystic kidney diseases
This document provides definitions and overview of various cystic kidney diseases including simple cysts, autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), acquired cystic kidney disease, Alport's syndrome, medullary sponge kidney, medullary cystic kidney disease, and renal phacomatosis associated with tuberous sclerosis and Von Hippel-Lindau disease. It describes the clinical features, pathogenesis, diagnosis, and management of these conditions.
Medullary sponge kidney (msk)
Medullary sponge kidney (MSK), also known as Cacchi-Ricci disease, is a congenital disorder characterized by irregular cystic dilatation of the medullary and collecting ducts in the kidneys, giving them a Swiss cheese appearance. Patients are at increased risk for kidney stones and urinary tract infections. While often asymptomatic, symptomatic patients typically present in middle age with renal colic, nephrolithiasis, or recurrent UTIs. Diagnosis is made using renal ultrasound, IV urography, or CT scan. There is no cure, but treatment focuses on preventing stone formation and treating UTIs.
Cystic renal diseases
This document discusses various renal cystic diseases and conditions. It covers cortical and medullary cysts, polycystic kidney disease, multicystic renal dysplasia and extra-parenchymal cysts. Autosomal dominant polycystic kidney disease is described as the most common hereditary cystic renal disease affecting 1 in 1000 people typically in the third decade of life. Imaging findings for simple cysts, polycystic kidney disease, multicystic renal dysplasia and extrarenal cysts on ultrasound, intravenous urography, CT and MRI are summarized.
Polycystic kidney disease for students
Polycystic kidney disease is caused by mutations in genes located on chromosomes 16p13.3 and 4q21. The kidneys become massively enlarged due to the growth of multiple cysts filled with fluid. Patients may be asymptomatic for years until renal insufficiency develops. Symptoms can include pain, bleeding, and high blood pressure as the cysts enlarge and damage the kidney tissue. Complications include liver and heart cysts as well as brain aneurysms. While the condition progresses slowly over decades, it ultimately leads to kidney failure and often death from heart or brain related issues.
Multi cystic dysplastic kidney (renal dysplasia)
Multicystic dysplastic kidney (MCDK) is a congenital abnormality characterized by multiple cysts replacing renal parenchyma. It results from ureteric bud obstruction during fetal development. Unilateral MCDK is usually asymptomatic and detected incidentally, while bilateral MCDK is fatal due to end-stage renal disease. Diagnosis is made using ultrasound and DMSA renal scan showing nonfunctional cystic kidneys. Treatment involves monitoring unilateral cases and supportive care for bilateral cases.
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Autosomal dominant polycystic kidney disease (adpkd)
Autosomal dominant polycystic kidney disease (adpkd)
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Natural Herbs For Polycystic Kidney Disease
Polycystic Kidney Disease can now be avoided and its existence can be eradicated with the help of a herbal formula designed after a watchful research done on the herbs that can rightly gel well together to fight this dangerous kidney ailment.
Amyloidosis
This document discusses amyloidosis, which is the extracellular deposition of fibrillar proteinaceous substances that have similar morphological appearances and staining properties but different chemical structures. It describes how amyloidosis was first described in 1842 and named by Virchow. The key components of amyloid fibrils are discussed as well as the mechanisms of amyloid formation and deposition. Important details on the morphology, sites of involvement like the kidney and spleen, and clinical manifestations are provided.
Cystic kidney diseases dr.a.hassan end123
This document discusses cystic diseases of the kidney. It begins by classifying kidney cysts by cause, features, and location. It then categorizes cysts as developmental, genetic, associated with systemic diseases, acquired, or malignant. Several genetic cystic kidney diseases are described in detail, including their pathophysiology and clinical presentations. Bosniak and Bonsib classifications of renal cysts are presented. The document concludes with epidemiology, differential diagnosis of cyst types, and morbidity and mortality of cystic kidney diseases.
Multiple myeloma and al amyloidosis
- AL amyloidosis is characterized by abnormal light chains produced by plasma cells that misfold and deposit as amyloid in tissues like the heart, kidneys, liver, and nervous system. This can cause organ dysfunction.
- Cardiac involvement is common and causes restrictive cardiomyopathy. Symptoms include heart failure, arrhythmias, and conduction abnormalities. Biomarkers, echocardiogram, cardiac MRI, and endomyocardial biopsy are used in diagnosis.
- Prognosis is poor if cardiac involvement is present, with median survival of less than 2 years with heart failure symptoms. Treatment involves chemotherapy and stem cell transplantation to suppress the plasma cell disorder causing amyloid deposition.
Amyloid
This document provides information on amyloid, including:
- Amyloid is an abnormal protein structure characterized by beta-pleated sheet conformation that takes up Congo red dye and exhibits green birefringence under polarized light.
- The main components of amyloid deposits are fibril proteins that make up 85-90% and the P component that stabilizes fibrils and decreases clearance.
- Amyloidosis is classified by process (acquired vs hereditary), type (AL, AA, AF etc), and location (systemic vs localized). Important systemic forms involve immunoglobulin light chains, serum amyloid A, and transthyretin.
- Amyloid is demonstrated histologically using stains
Classification of Amyloidosis
Amyloidosis is a condition associated with a number of inherited and inflammatory disorders in which extracellular deposits of fibrillar proteins are responsible for tissue damange and functional compromise. (Robbins Basic Pathology, 9th Edition)
The following slideshow deals with the classification of Amyloidosis:
Amyloidosis
Amyloidosis refers to conditions where normally soluble proteins become insoluble and deposit in tissues, disrupting their normal function. There are two main types - systemic, which affects multiple organs, and localized, which affects a single organ. Amyloidosis can be primary, arising from a disease affecting immune cells, or secondary, occurring due to another chronic inflammatory condition. The pathogenesis involves misfolding of protein fragments that are not dissolved during proteolysis, causing them to aggregate into oligomers and amyloid fibrils within tissues like the liver and kidneys. In the liver, amyloid deposits may cause hepatomegaly and rupture, while in the kidneys it causes vascular narrowing and glomerular deposition leading to ischemia.
Amyloidosis and pathological calcification
This document summarizes information on pathological calcification and amyloidosis. It discusses two types of pathological calcification - dystrophic calcification, which occurs in dead or degenerating tissue despite normal calcium metabolism, and metastatic calcification, which results from hypercalcemia and occurs in normal tissues. It also covers the definition, chemical structure, classification, staining characteristics and morphological features of amyloidosis. In particular, it describes how amyloidosis can involve the kidney, spleen, liver and heart, and discusses the prognosis of generalized amyloidosis.
Amyloidosis
A Powerpoint presentation on the epidemiology, etiology, pathogenesis, clinical features, diagnostic work up and treatment of the common types of amyloid.
Amyloidosis
This is a series of notes on general pathology.. Amyloidosis is a very important topic from exam point of view both for under and post graduates..topic is presented here with enough colour illustrations
Amyloidosis
Amyloidosis is a disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid deposits.
Amyloidosis ppt
amyloidosis(including history,physical and chemical properties, classification, variants, staining characteristics, lab diagnosis,morphological patterns according to organ involved ,), basically for undergraduates and residents in pathology
Amyloidosis
Amyloidosis comprises a group of diseases characterized by the extracellular deposition of insoluble fibrous amyloid proteins in various body tissues. There are at least 20 different types of amyloid proteins that can form fibrils and deposit in tissues. The classification of amyloidosis has evolved from descriptive terms to designations based on the type of amyloid fibril protein involved (such as AL, AA, and TTR amyloidosis). AA amyloidosis is caused by deposition of amyloid A protein and is associated with long-term inflammatory conditions like familial Mediterranean fever. It commonly involves the kidneys and gastrointestinal tract and can lead to renal failure. Treatment focuses on managing the underlying inflammatory condition to reduce amyloid A protein levels and prevent further deposition.
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This document summarizes observations of cystic conditions in various organs observed over a 5-year period in anatomy and obstetrics/gynecology departments. The most commonly observed cystic condition was polycystic ovary (34 cases), followed by polycystic kidney (2 cases), polycystic lung (1 case), and polycystic liver (1 case). Details are provided on the embryology, pathogenesis, clinical features, and management of cysts in these organs. In particular, polycystic ovary syndrome is described as the most common endocrinopathy in women of reproductive age.
CKD PPT Chahat kalra 21MND1016 New.pptx
This document provides information about chronic kidney disease (CKD). It discusses the definition and stages of CKD, causes and risk factors like diabetes and hypertension, clinical manifestations such as anemia and fluid retention, and the pathophysiology. It also covers the prevalence of CKD in India, recent research studies on genetic and cellular factors, and treatments including dietary modifications, dialysis, and kidney transplantation.
Genetic Disorder
The document provides information about hereditary spherocytosis, an inherited blood disorder where red blood cells take on an abnormal spherical shape. It discusses how the condition is caused by defects in red blood cell membrane proteins and is diagnosed through blood tests and examination of red blood cell shape under a microscope. Signs and symptoms include anemia, jaundice, and an enlarged spleen. Treatment options include removing the spleen through surgery to prevent red blood cell destruction, or supplements for mild cases.
MATERNAL AGE,MATERNAL DRUG THERAPY PRENATAL TEST AND DIAGNOSIS.pdf
This document discusses prenatal testing and diagnosis. It begins with an introduction to maternal age and risks associated with advanced maternal age such as preeclampsia and genetic disorders. It then describes various prenatal tests including amniocentesis, which analyzes amniotic fluid; chorionic villus sampling, which analyzes placental tissue; and non-invasive options like cell-free DNA screening from a blood sample and triple screening tests. The document outlines both invasive procedures that obtain fetal tissues and non-invasive procedures to screen for potential issues.
Kidney stones and obesity
This document presents a proposed research plan to study the prevalence of kidney stones in obese patients. It introduces the problem that obese individuals have a higher risk of developing kidney stones. The purpose is to develop a qualitative research plan to establish the prevalence, causes, current statistics, and ways to control and prevent both conditions. The study will seek to answer questions about how weight impacts kidney stone risk, barriers to preventing obesity and stones, and best practices. The hypothesis is that obesity increases kidney stone risk and that lack of self-efficacy and modern lifestyles cause obesity and stones. The theoretical framework is Bronfenbrenner's ecological systems theory, which posits that health is shaped by interactions within one's ecology.
新生兒壞死性腸炎
Necrotizing enterocolitis (NEC) is a devastating disease that primarily affects premature infants. It was first described in the 1960s but the incidence and associated mortality have not changed significantly despite advances in neonatal care. NEC can cause pneumatosis intestinalis, portal venous gas, intestinal perforation, and systemic complications. It remains difficult to prevent and treat. Differential diagnoses include conditions seen in term infants associated with drug use or anomalies, and spontaneous intestinal perforations seen in very preterm infants without feeding. NEC costs over $500 million annually in the US due to increased hospitalization time and risk of short bowel syndrome requiring long-term care.
Amniocentesis
Amniocentesis is a prenatal procedure that involves inserting a needle into the amniotic sac surrounding the fetus to remove and examine fluid. It tests for chromosomal abnormalities like Down syndrome. The benefits are informing parents of potential issues, but risks include miscarriage less than 1% of the time and infection. It is usually recommended between 15-25 weeks of pregnancy for those at higher risk of fetal abnormalities.
Polycystic kidney disease
definition
types of Polycystic kidney disease
complications of Polycystic kidney disease
management for Polycystic kidney disease
Cystic Fibrosis. GIT Manifestations. Diagnosis. Treatment
Cystic fibrosis is a genetic condition that causes thick, sticky mucus to build up in the lungs and digestive tract. This mucus clogs the lungs and leads to infections, and blocks the pancreas which causes issues absorbing nutrients. The main symptoms are issues with the lungs like infections, coughing, and shortness of breath as well as problems with digestion like poor growth and weight gain. There is no cure, but treatments focus on clearing the lungs of mucus, treating infections with antibiotics, using enzymes to aid digestion, and potentially lung or liver transplants in severe cases.
OCCURANCE OF E.coli AND Klebbsiella in diabetes
This document summarizes a student's dissertation project on the occurrence of E. coli and Klebsiella species in urine cultures of diabetic and non-diabetic male and female patients over 60 years old. The student conducted urine cultures from over 100 patients to determine the most common bacteria present and their antibiotic sensitivities. Key findings included E. coli being the most frequently identified bacteria, with the highest occurrence in patients aged 60-70. Klebsiella species demonstrated resistance to certain antibiotics. The study provides insight into common causes of urinary tract infections in older patients and antibiotic treatment options.
D0532020025
This document discusses colonic diverticulitis, including risk factors, diagnosis, and management. Some key points:
- Risk factors for diverticulitis include increasing age, constipation, low fiber diet, and connective tissue disorders. The exact causes are still unclear.
- Diagnosis is usually made clinically based on symptoms, though imaging like CT scans can help. Common pathogens include various bacteria.
- Treatment typically involves antibiotics and hydration. Surgery is considered if symptoms are uncontrolled or fail to improve with medical treatment.
POLYCYSTIC KIDNEY DISEASE FOR NURSING
PKD slide is helpful for the BSc nursing students... if you have any queries regarding polycystic kidney dsease please feel free to mail me on my mail id upadhyaymani1@gmail.com
Cystic FibrosisCreated By Tammy Wagner, Karen Byfield, Sherry.docx
This document provides information about cystic fibrosis including its definition, causes, history, impacts, and care plan. Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is caused by a mutation in the CFTR gene and affects the lungs, pancreas, and other organs. Life expectancy for those with cystic fibrosis has increased from around 6 years in 1950 to over 37 years currently due to advances in treatment. The document outlines screening and treatment recommendations including airway clearance techniques and monitoring for complications like cystic fibrosis related diabetes. National and online resources for support and information on cystic fibrosis are also provided.
Hereditary Diseases
Examples of Hereditary Diseases, Cystic Fibrosis, Thalassemia, Diabetes, Down Syndrome, Obesity, and its symptoms, causes and treatments for it.
Annotated Bibliography-Cholecystitis
The gallbladder can become inflamed, a condition known as cholecystitis. Chronic cholecystitis is usually caused by gallstones obstructing the cystic duct. Acute cholecystitis causes intense abdominal pain and may require surgery to remove the gallbladder (cholecystectomy). Pregnancy increases the risk of cholecystitis due to hormonal and anatomical changes. Nurses play an important role in caring for patients with cholecystitis through interventions like IV fluids, antibiotics, pain management, and education.
Epidemiology Lectures for UG
A 29-year-old previously healthy man was referred to UCLA with a 8-month history of fever, fatigue, enlarged lymph nodes, and a 12.5 kg weight loss. He had a fever of 39.5°C, appeared physically wasted, and had swollen lymph nodes. Laboratory tests showed depressed lymphocytes. The patient suffered from simultaneous infections of Candida albicans in the upper gastrointestinal tract, Pneumocystis carinii in the lungs, and cytomegalovirus in the urinary tract, and was not responding to antibiotics with no known cause of immunosuppression. There were also 3 other previously healthy young men in the last 6 months reported with similar symptoms who all had Candida albic
Cystic Fibrosis Presentation
Cystic Fibrosis is a genetic disorder caused by mutations in the CFTR gene. It causes thick, sticky mucus to build up in the lungs, digestive tract and other organs. Common symptoms include persistent coughing, wheezing, foul-smelling stool, and salty-tasting skin. There is no cure, but treatments aim to clear mucus from the lungs and improve nutrition. Life expectancy has increased to over 37 years on average with advances in care.
Brucellosis uptodate
Brucellosis is caused by bacteria of the genus Brucella that can infect both animals and humans. It is a zoonotic disease transmitted through contact with infected animals or consumption of unpasteurized dairy products. In humans, it causes non-specific symptoms like fever, joint pain, and fatigue. Diagnosis involves blood cultures and serology. Treatment consists of a combination of doxycycline and rifampin or streptomycin for 6 weeks to prevent relapse. Vaccination of animals and pasteurization of dairy products are important for prevention.
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Date: May 29, 2024
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Polycystic kidney disease
- 1. Running Head: POLYCYSTIC KIDNEY DISEASE 1 POLYCYSTIC KIDNEY DISEASE Name Institution Affiliation Course (October 9, 2012)
- 2. POLYCYSTIC KIDNEY DISEASE 2 Polycystic Kidney Disease Polycystic Kidney Disease is a genetic kidney disorder inherited through family lines, where the kidneys form many cysts making them bloated; this is due to the formation of many cysts in the kidney. There are two types of the disorder which are the autosomal dominant and the autosomal recessive. The autosomal dominant is usually developed at older years such as 30 – 40 but also occurs in children and is the most common; while the autosomal recessive is developed in childhood years and can even start from the womb and is a rare condition (Dakshinamurty, 2009). Causes The Polycystic Kidney Disease is inherited from family with the autosomal dominant trait being more prevalent. When one parent has the gene to this disorder then chances are that the child has 50 percent chance to contract the disorder. This disorder is associated with aortic and brain aneurysms, liver, testes, and pancreas cysts, and colon diverticula (Simons & Walz, 2006). Symptoms The symptoms include pain in the abdomen and abdominal tenderness; blood in the urine; too much urination at night, and flank pain on the abdominal parts (one or both sides). Other symptoms include pain in the joints, drowsiness, and abnormalities on nails (Dakshinamurty, 2009). Signs and tests
- 3. POLYCYSTIC KIDNEY DISEASE 3 During examination there may be abdominal tenderness on the upper part of the liver, which may also be enlarged. There also may be heart murmurs; growth of the kidneys and/or abdomen; and high blood pressure (Dakshinamurty, 2009). The tests done on the patient include a complete blood count (CBC), urinalysis, and a celebral angiography. Through scans on the body the swellings will be identified and hence abdominal CT scans, MRI scans, ultrasound and intravenous pyelogram (IVP) may be done. For persons who identify the disease in other family members it is best to take a genetic test to ascertain their health (Dakshinamurty, 2009). Treatment In view of the fact that the disorder is genetic, treatment is aimed at control and preventing further complications of the symptoms. For this reason, medication is taken to treat the given ailments found out such as blood pressure drugs (high blood pressure) and antibiotics (urinary bacterial infections). Also diuretics and low salt diets are encouraged (Dakshinamurty, 2009). When cysts are painful, bleed, or get infected they may be drained since they may be so many to remove each of them. Surgical operations to remove the affected kidneys (transplant) could be done or a scheduled dialysis of the patient.
- 4. POLYCYSTIC KIDNEY DISEASE 4 Reference Dakshinamurty, K. V. (2009). Polycystic Kidney Disease – ECAB. Philadelphia: Elsevier Health Sciences, 2009 Simons, M. & Walz, G. (2006). "Polycystic Kidney Disease: cell division with a clue?" Kidney International. (70): 854–864