Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta
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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.
Polycystic Kidney disease
Subset of renal cystic disorders in which cysts are distributed throughtout the cortex and medulla of both kidneys.
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.
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.
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 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.
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.
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.
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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.
Polycystic Kidney disease
Subset of renal cystic disorders in which cysts are distributed throughtout the cortex and medulla of both kidneys.
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.
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.
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 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.
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.
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.
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.
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.
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.
Polycystic kidney disease
definition
types of Polycystic kidney disease
complications of Polycystic kidney disease
management for Polycystic kidney disease
Polycystic Kidney Disease
Author: Ms Christa Maria Joel
Moderator- Dr. Amith D' Souza
Department of Internal Medicine
Father Muller Medical College
4th Year MBBS
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
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.
Case presentation polycystic kideny
This document describes the case of a 3-year-old boy who presented with abnormal movements and fever. He was found to have chronic renal failure, hypocalcemia, hypomagnesaemia, and hypertensive encephalopathy. Imaging showed enlarged kidneys consistent with autosomal dominant polycystic kidney disease (ADPKD). He was treated for his hypertension and renal failure. Hypertensive encephalopathy is characterized by neurological symptoms due to a rapid rise in blood pressure and failure of the brain's autoregulation. It is commonly seen in patients with renal disease and is managed by slowly lowering the blood pressure over 24-48 hours.
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.
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.
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.
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.
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.
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 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.
Multicystic Dysplastic Kidney
This document presents a case report of a newborn with multicystic dysplastic kidney (MCDK). The key points are:
1) Prenatal ultrasound identified a cystic enlargement of the left kidney in the fetus.
2) After a preterm delivery, examination of the newborn found generalized edema, dysmorphic features, and a grossly edematous left MCDK.
3) Workup revealed renal failure. Imaging showed a small right kidney. The newborn was treated with peritoneal dialysis.
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.
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.
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.
Cystic diseases of kidney
pathology, cystic kidney diseases, kidneys, gross, cysts, ADPKD, ARPKD, cystic nephroma, tuberous sclerosis, VHL syndrome, cystic dysplastic kidney, glomerulocystic kidney, genetic
Poisons high yield review
This document lists various poisons, their fatal doses, and estimated fatal periods. It includes common acids, bases, salts, metals, organic compounds, plants, and venoms. Ranging from as little as 5 mg to over 10 grams, fatal doses are provided for substances like sulfuric acid, nitric acid, hydrochloric acid, oxalic acid, phenol, potassium hydroxide, sodium carbonate, formaldehyde, iodine, bromide, phosphorus, antimony, ricin, abrus, ergot, opium, morphine, alcohol, barbiturates, chloral hydrate, pesticides, DDT, cannabis, cocaine, strychnine, hydrogen cyanide
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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.
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.
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.
Polycystic kidney disease
definition
types of Polycystic kidney disease
complications of Polycystic kidney disease
management for Polycystic kidney disease
Polycystic Kidney Disease
Author: Ms Christa Maria Joel
Moderator- Dr. Amith D' Souza
Department of Internal Medicine
Father Muller Medical College
4th Year MBBS
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
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.
Case presentation polycystic kideny
This document describes the case of a 3-year-old boy who presented with abnormal movements and fever. He was found to have chronic renal failure, hypocalcemia, hypomagnesaemia, and hypertensive encephalopathy. Imaging showed enlarged kidneys consistent with autosomal dominant polycystic kidney disease (ADPKD). He was treated for his hypertension and renal failure. Hypertensive encephalopathy is characterized by neurological symptoms due to a rapid rise in blood pressure and failure of the brain's autoregulation. It is commonly seen in patients with renal disease and is managed by slowly lowering the blood pressure over 24-48 hours.
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.
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.
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.
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.
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.
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 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.
Multicystic Dysplastic Kidney
This document presents a case report of a newborn with multicystic dysplastic kidney (MCDK). The key points are:
1) Prenatal ultrasound identified a cystic enlargement of the left kidney in the fetus.
2) After a preterm delivery, examination of the newborn found generalized edema, dysmorphic features, and a grossly edematous left MCDK.
3) Workup revealed renal failure. Imaging showed a small right kidney. The newborn was treated with peritoneal dialysis.
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.
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.
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.
Cystic diseases of kidney
pathology, cystic kidney diseases, kidneys, gross, cysts, ADPKD, ARPKD, cystic nephroma, tuberous sclerosis, VHL syndrome, cystic dysplastic kidney, glomerulocystic kidney, genetic
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Autosomal dominant polycystic kidney disease (adpkd)
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Similar to Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta
Cystic diseases of kidney
Cystic kidney diseases can be genetic or acquired. Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic condition characterized by numerous fluid-filled cysts in the kidneys that worsen over time, potentially leading to kidney failure. Autosomal recessive polycystic kidney disease (ARPKD) presents in infancy with enlarged cystic kidneys and often liver disease, and can be fatal. Other cystic conditions include medullary sponge kidney cysts in the kidney papillae and nephronophthiasis-medullary cystic complex cysts at the corticomedullary junction. Simple cortical cysts are very common incidental findings. Ren
13. oldIntroduction to nephrology 1 & 2.ppt
This document provides an introduction to nephrology and outlines renal embryogenesis and common renal diseases in children. It discusses the significance of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) as a leading cause of chronic kidney failure in children. It describes tests of renal function and various renal malformations including obstructive uropathies, renal cystic diseases, renal agenesis, and horseshoe kidney. Surgical treatments for conditions like posterior urethral valves and bladder exstrophy are also mentioned.
Pediatric renal cystic diseases
A quick presentation about the general classification of pediatric renal cystic diseases and the differences between the two types of PCKD/PKD.
CONGENITAL MALFORMATIONS OF KIDNEY
This document discusses congenital malformations of the kidneys, focusing on cystic diseases. It describes three broad groups of kidney malformations: abnormalities in renal tissue amount, anomalies of position/form/orientation, and anomalies of differentiation. It then classifies and describes cystic kidney diseases in detail. The major cystic diseases discussed are multicystic renal dysplasia, adult polycystic kidney disease (ADPKD), and infantile polycystic kidney disease (ARPKD). ADPKD is inherited dominantly and manifests in adulthood, while ARPKD is inherited recessively and presents in infancy, often leading to death from renal failure.
Polycystic Kidney Disease.pptx
Polycystic kidney disease (PKD) is a genetic disorder characterized by numerous fluid-filled cysts that grow in the kidneys, destroying normal kidney tissue and leading to loss of kidney function over many years. There are two major forms: autosomal dominant PKD, which usually causes symptoms between ages 30-40 but can occur earlier, and the rare autosomal recessive form which causes symptoms from birth. As the cysts enlarge the kidneys and kidney function declines, patients may experience high blood pressure, pain, and ultimately kidney failure requiring dialysis or transplant. While there is no cure, treatment focuses on blood pressure control, pain management, and antibiotics for infections to help manage the condition.
THE KIDNEY - CONGENITAL MALFORMATIONS
This document discusses congenital malformations of the kidney. It is divided into three sections: abnormalities in renal tissue amount, anomalies in position and shape, and cystic diseases. Cystic diseases are further classified as multicystic renal dysplasia and polycystic kidney disease. Polycystic kidney disease occurs in two forms - an adult autosomal dominant form and a rare infantile autosomal recessive form. The adult form typically manifests between ages 30-50 with back pain, bleeding, infections and hypertension, while the infantile form causes renal failure in early childhood.
cystic kidneys.pptx
Cystic diseases of the kidney can be congenital or acquired and range from benign and asymptomatic to severe and life-threatening. There are several types of cystic kidney disease including polycystic kidney disease (PKD), which is autosomal dominant and involves multiple expanding cysts leading to kidney destruction. Multicystic dysplastic kidney disease (MCDK) is a non-functioning dysplastic kidney with multiple cysts present at birth. Acquired cystic kidney disease develops secondary to long-term dialysis and carries an increased risk of kidney tumors.
Developmental anomalies of Renal system
This document summarizes the development, anomalies, and course of the renal and urinary systems. It describes how the kidneys ascend from the pelvis to the abdomen during development. It then discusses various congenital anomalies that can affect the kidneys such as agenesis, hypoplasia, horseshoe kidney, and ectopic location. Ureteral anomalies like double ureters, megaureters, and UPJ obstruction are also covered. The course of the ureters is described, including their retroperitoneal path and three areas of constriction. Clinical correlations are provided regarding sites of obstruction and surgical considerations.
Congenital Anomalies Of UG System PATHOLOGY.pptx
Congenital anomalies of the genitourinary system can affect the urinary tract (kidneys, ureters, bladder) or genital tract. They include conditions like renal agenesis (absence of one or both kidneys), renal hypoplasia (small, underdeveloped kidneys), horseshoe kidney (kidneys fused at the base), and cystic kidney diseases. Cryptorchidism is the failure of one or both testes to descend into the scrotum. If left uncorrected, these congenital anomalies can damage the kidneys, cause infertility, or increase cancer risk.
Radiology 5th year, 5th lecture (Dr. Nasrin Alatrushi)
Hypertension can be caused by underlying renal disease through several mechanisms: renal artery stenosis, chronic glomerulonephritis, chronic pyelonephritis, polycystic kidney diseases, and polyarteritis nodosa. Imaging plays a role in diagnosing renal artery stenosis and evaluating kidney size and structure in renal failure and congenital kidney anomalies. Bladder tumors are most commonly transitional cell carcinoma and are best detected by cystoscopy although other imaging modalities can provide information on tumor extent.
Fetal genitourinary
The document describes the sonographic appearance of the fetal kidneys, bladder, and urinary tract. It discusses how the kidneys appear hyper-echoic and oval shaped in the first trimester, becoming less echogenic over time with corticomedullary differentiation appearing at 14-15 weeks. The bladder is first seen at 9 weeks gestation and empties every 25-30 minutes in the second and third trimester. Various urinary tract abnormalities are described such as renal agenesis, ectopic or fused kidneys, renal cystic diseases, hydronephrosis, and lower urinary tract obstruction. Causes, appearances, and characteristics of different abnormalities are provided.
International Journal of Hepatology & Gastroenterology
Our case report presents a ten-year-old boy who complains abdominal pain and rectal bleeding for more than six months. Other clinical findings were digital hippocratism and failure to thrive. Colonoscopy had shown 12 polyps from anus to cecum whose histology confirmed Juvenile character, non adenomatous and free of dysplasia. Diagnosis of Juvenile Polyposis Syndrome was more probable but a differential diagnosis from other intestinal polyposis especially from hamartomatous syndromes is crucial.
gastro-esophageal-reflux-disease-gerd-in-children (1)_OCR.pdf
This document discusses gastroesophageal reflux disease (GERD) in children. It defines GERD and covers topics like pathophysiology, prevalence, symptoms, diagnosis, and management. Regarding pathophysiology, it describes factors like lower esophageal sphincter (LES) tone and transient LES relaxations that can allow reflux. It notes that GERD symptoms are common in children and can impact quality of life. Diagnosis involves history, physical exam, tests like pH monitoring and endoscopy. Treatment goals are to relieve symptoms, heal esophagitis, prevent complications, and maintain remission.
Potter syndrome
Potter syndrome, also known as Potter sequence, is a rare congenital disorder associated with a lack of amniotic fluid during pregnancy. In addition to impaired skeletal and respiratory development, characteristic physical features of infants with Potter syndrome, called Potter facies, include wrinkly skin, low-set ears, flat nose and chin, and widely separated eyes with epicanthal folds. Potter syndrome is often caused by various problems in the development of the kidneys, early rupture of membranes, or other rare congenital disorders. Diagnosis is primarily based on imaging, such as ultrasound and MRI scans, as well as blood tests. Treatment depends on the underlying cause and is available only for the few infants who survive gestation and birth, as Potter syndrome is terminal in most cases.
CYSTIC KIDNEY DISEASES.pdf
1. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of multiple fluid-filled cysts in the kidneys, which can lead to kidney failure.
2. There are two main types of PKD - autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). ADPKD is usually diagnosed in adulthood while ARPKD can be diagnosed in the womb or shortly after birth.
3. PKD is caused by mutations in genes responsible for regulating kidney epithelial cell morphology. Management focuses on controlling blood pressure, treating infections, and renal replacement therapies like dialysis or transplantation for end-stage renal disease.
Posterior urethral valve
Posterior urethral valves are congenital obstructions of the urethra that commonly cause urinary tract obstruction in boys. They develop from abnormal remnants of the wolffian duct during early bladder development. Presentation is usually prenatal due to hydronephrosis seen on ultrasound. Long term risks include renal dysfunction and end stage renal disease due to damage from high pressures in the urinary tract. Management involves early surgical removal of the valves and lifelong monitoring of kidney and bladder function.
Renal Transplantation in Children
The goal of a successful transplant has beep accomplished in more than three fourths of the children with end-stage kidney disease treated in a special program undertaken at Los Angeles Childrens Hospital some years ago. In general, rehabilitation both physical and psychologic and growth have been highly satisfactory, the latter especially when transplantation was carried out before puberty. Although the number of children with end-stage renal disease ESRD in need for renal transplantation is small compared with adults, the problem associated with renal transplant in children are numerous, varied, and often peculiar. Pre-emptive transplantation has recently been growing in popularity as it avoids many of the associated long-term complications of ESRD and dialysis. Changes in immunosuppression to more potent agents over the years will have affected transplant outcome there is also evidence that tacrolimus is more effective than cyclosporine. This review will discuss the short- and long-term complications such as acute and chronic rejection, hypertension, infections, and malignancies as well as factors related to long-term graft function. Chronic allograft nephropathy is the leading cause of renal allograft loss in pediatric renal transplant recipients. It is likely that it reflects a combination of both immune and nonimmune injury occurring cumulatively over time so that the ultimate solution will rely on several approaches. Transplant and patient survival have shown a steady increase over the years. The major causes of death after transplantation are cardiovascular disease, infection and malignancy. Transplantation in special circumstances such as children with abnormal urinary tracts and children with diseases that have the potential to recur after transplantation will also be discussed in this review. Non-compliance with therapeutic regimen is a difficult problem to deal with and affects patients and families at all ages, but particularly so at adolescence. Growth may be severely impaired in children with ESRD which may result in major consequences on quality of life and self-esteem a better height attainment at transplantation is recognized as one of the most important factors in final height achievement. Sangeeta Dewangan "Renal Transplantation in Children" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-3 | Issue-2 , February 2019, URL: https://www.ijtsrd.com/papers/ijtsrd21432.pdf
Paper URL: https://www.ijtsrd.com/other-scientific-research-area/other/21432/renal-transplantation-in-children/sangeeta-dewangan
Congenital anomalies of the kidney and urinary tract
CAKUT are a group of phenotypically diverse structural malformations characterized by defects in renal and urinary tract development.
Nearly half of children who develop end-stage renal disease (ESRD) have asymmetric, irregularly shaped kidneys, often referred to as bilateral renal scarring and frequently associated with lower urinary tract anomalies, including vesicoureteral reflux (VUR).
Congenitally abnormal kidneys may be large or small, cystic or irregular in outline, and absent or misplaced.
Congenital anomalies of kidney and urinary tract
Congenital anomalies of kidney and urinary tractDepartment of Health & Family Welfare, Government of West Bengal
This presentation comprises of congenital anomalies of kidney and urinary tract made concise and in depth for PG preparation. It contains all important topics of the regarding subject covered in detail.Pediatrics 5th year, 6th lecture (Dr. Adnan)
This document discusses several gastrointestinal disorders commonly seen in pediatric practice including gastroesophageal reflux (GER), GER disease (GERD), peptic ulcer disease, and hypertrophic pyloric stenosis. It describes the clinical features, potential complications, diagnostic tests, and treatment approaches for each condition. Key points include that GER is usually developmental but persistent or severe cases require treatment, while peptic ulcers can be diagnosed endoscopically and treated with acid suppression therapies. Hypertrophic pyloric stenosis causes projectile vomiting in infants and is corrected surgically.
Similar to Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta (20)
Radiology 5th year, 5th lecture (Dr. Nasrin Alatrushi)
Radiology 5th year, 5th lecture (Dr. Nasrin Alatrushi)
International Journal of Hepatology & Gastroenterology
International Journal of Hepatology & Gastroenterology
gastro-esophageal-reflux-disease-gerd-in-children (1)_OCR.pdf
gastro-esophageal-reflux-disease-gerd-in-children (1)_OCR.pdf
Congenital anomalies of the kidney and urinary tract
Congenital anomalies of the kidney and urinary tract
Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta
- 1. Qworld Nephrology Notes Tanmay Mehta AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Chromosome 6 p21 single genetic disease with variable phenotypic presentation neonatal, infantile, or juvenile relative degree of involvement of the kidneys and liver At birth the kidneys are enlarged with a smooth external surface. The distal tubules and collecting ducts are dilated into elongated cysts that are arranged in a radial fashion. As the patient ages, the cysts may become more spherical and the disease can be confused with ADPKD. Interstitial fibrosis is also seen as renal function deteriorates Liver involvement includes proliferation and dilation of intrahepatic bile ducts as well as periportal fibrosis. The majority of cases are diagnosed in the first yearQ of life, presenting as Qbilateral Qabdominal masses. Death in the neonatal period is most commonly due to pulmonary hypoplasiaQ. Hypertension Qand impaired urinary concentrating abilityQ are common course to ESRD is variable, though many children maintain adequate kidney function for years Older children present with complications secondary to congenital hepatic fibrosis Hepatosplenomegaly, portal hypertension,Q and esophageal varices QUltrasound is the most common technique used to diagnose ARPKD, prenatally and in childhood: enlarged kidneys with increased echogenicity IVP : SUNBURST PATTERNQ Aggressive treatment of hypertension and urinary tract infection are the major goals Dialysis and transplant are appropriate when kidney failure occurs. Hepatic fibrosis may lead to life-threatening variceal hemorrhage, requiring sclerotherapy or portosystemic shunts.