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CASE 1 
10/1/2014 thaotram 1
• Case History: A 78-year-old patient presented 
with history of hypertension and renal failure. 
10/1/2014 thaotram 2
10/1/2014 thaotram 3
both kidneys with multiple cysts. 
10/1/2014 thaotram 4
Ultrasound findings 
• Both the kidneys are enlarged in size, multiple 
cysts. Few of the cysts show calcification at 
the...
Diagnosis: 
• Autosomal dominant polycystic kidney 
10/1/2014 thaotram 6
WHAT IS Polycystic kidney disease 
• is a cystic genetic disorder of the kidneys 
• PKD or PCKD, also known as polycystic ...
POTTER CLASSIFICATION 
• Type 1: Autosomal recessive polycystic kidney 
disease (ARPKD)  Infantile Polycystic Kidney 
Dis...
Autosomal dominant polycystic kidney 
disease 
• Definition: ADPKD is one of the most common 
forms of polycystic kidney d...
Cause 
• 
+ mutations in the genes PKD1 or PKD2, which 
encode the proteins polycystin-1 and 
polycystin-2 
+ PKD1 being l...
Pathophysiology 
• Recent evidence suggests that the primary 
abnormality leading to cyst formation is related 
to defects...
• While it is not known how defects in the 
primary cilium lead to cyst development, it is 
thought to possibly be related...
In general: 
- Cysts arise from the nephrons and collecting 
tubules; microdissection reveals that the cysts 
communicate ...
10/1/2014 thaotram 14
10/1/2014 thaotram 15
Clinical symptoms and signs 
• The most common symptoms are pain in the 
back and the sides (between the ribs and 
hips), ...
Epidemiology 
• Mean age at diagnosis: 43 years (neonatal / infantile 
onset has been reported) 
• Present at birth: 1/400...
Associated with 
• Cysts in: liver (25-50%), pancreas (9%) 
• Aneurysm: saccular "berry" aneurysm of 
cerebral arteries (3...
10/1/2014 thaotram 19
COMPLICATIONS 
• Hypertension (++) 
• Gross hematuria 
• Infection (+++) 
• Kidney stones 
• Kidney failure: 50% by age 60...
10/1/2014 thaotram 21
How do we diagnose this disease? 
• By Ultrasonography 
• By X-ray 
• By CT 
• By MRI 
10/1/2014 thaotram 22
Ultrasonography 
• Multiple cysts typically in both kidneys 
• The cysts are numerous and fluid-filled, good 
through tran...
10/1/2014 thaotram 24
STANDARD 
• The diagnostic criteria for individuals who have a 
50 percent risk of developing ADPKD include: 
At least tw...
X-ray 
• Plain radiographic findings are normal in the 
early stages of ADPKD 
• Enlargement of the kidneys: soft-tissue 
...
• Plain radiograph of the 
kidney, ureters, and 
bladder in a 50-year-old 
woman with autosomal 
dominant polycystic 
kidn...
• The pelvocaliceal 
systems 
demonstrate 
bilateral, diffuse 
irregularity and 
splaying. 
• The collecting 
system may b...
Computed Tomography 
• The cysts in (ADPKD) are fairly well-defined, 
round or oval masses with low attenuation 
values si...
Unenhanced axial computed tomography scan of the abdomen 
in a 45-year-old woman with autosomal dominant polycystic 
kidne...
Contrast-enhanced computed tomography scan in a 45-year-old 
woman with ADPKD(same patient as in the previous image) 
clea...
10/1/2014 thaotram 32
Magnetic Resonance Imaging 
• Renal cysts show a homogeneous, low to 
intermediate signal intensity on T1-weighted 
images...
and more 
• "Swiss cheese" nephrogram = multiple lesions 
of varying size with smooth margins 
• Polycystic kidneys shrink...
Differential Diagnosis 
• Multiple simple cysts 
+ less diffuse, 
+ no family history 
10/1/2014 thaotram 35
• Multicystic dysplastic kidney 
• (a ) hydronephrotic and 
dysplastic kidney with 
echogenic and undifferentiated 
parenc...
• Localized renal 
cystic disease: 
(rare) 
• involves only one 
kidney at a time 
• The condition is 
typically nonfamili...
• Infantile PCKD : usually microscopic cysts < 3mm 
10/1/2014 thaotram 38
• Von Hippel-Lindau disease 
+ cerebellar hemangioblastoma, 
+ retinal hemangiomas, 
+ occasionally pheochromocytomas 
• A...
The goals of treatment for patients 
with PKD 
• Managing and better controlling the 
symptoms of the disease. 
• Preventi...
What we must remember 
• Meaning age: middle-age 
• Include many clinical complications: 
hypertension, gross hematuria, i...
• Thank you for listening  
10/1/2014 thaotram 42
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Adult polycystic kidney disease

  1. 1. CASE 1 10/1/2014 thaotram 1
  2. 2. • Case History: A 78-year-old patient presented with history of hypertension and renal failure. 10/1/2014 thaotram 2
  3. 3. 10/1/2014 thaotram 3
  4. 4. both kidneys with multiple cysts. 10/1/2014 thaotram 4
  5. 5. Ultrasound findings • Both the kidneys are enlarged in size, multiple cysts. Few of the cysts show calcification at their periphery. Overall echogenicity of both kidneys is little increased. • No cyst seen in liver and pancreas 10/1/2014 thaotram 5
  6. 6. Diagnosis: • Autosomal dominant polycystic kidney 10/1/2014 thaotram 6
  7. 7. WHAT IS Polycystic kidney disease • is a cystic genetic disorder of the kidneys • PKD or PCKD, also known as polycystic kidney syndrome 10/1/2014 thaotram 7
  8. 8. POTTER CLASSIFICATION • Type 1: Autosomal recessive polycystic kidney disease (ARPKD)  Infantile Polycystic Kidney Disease • Type 2: Multicystic dysplastic kidney (Multicystic renal dysplasia) • Type 3: Autosomal dominant polycystic kidney disease (ADPKD)  Adult Polycystic Kidney Disease 10/1/2014 thaotram 8
  9. 9. Autosomal dominant polycystic kidney disease • Definition: ADPKD is one of the most common forms of polycystic kidney disease. • Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The cysts are filled with fluid. • The progressive expansion of PKD cysts slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. 10/1/2014 thaotram 9
  10. 10. Cause • + mutations in the genes PKD1 or PKD2, which encode the proteins polycystin-1 and polycystin-2 + PKD1 being located on the short arm of chromosome 16 (85%) + PKD2 on the long arm of chromosome 4 (15%) 10/1/2014 thaotram 10
  11. 11. Pathophysiology • Recent evidence suggests that the primary abnormality leading to cyst formation is related to defects in primary cillia. • In the kidney, primary cilia have been found to be present on most cells of the nephron, projecting from the apical surface of the renal epithelium into the tubule lumen. • The defect of polycystin-1, polycystin-2, and fibrocystin, the proteins associated with ADPKD and ARPKD, within the primary cilia and basal body of renal tubular epithelia and subsequent cilia formation may lead to PKD 10/1/2014 thaotram 11
  12. 12. • While it is not known how defects in the primary cilium lead to cyst development, it is thought to possibly be related to disruption of one of the many signaling pathways regulated by the primary cilium, including intracellular calcium, cyclic adenosine monophosphate (cAMP), or planar cell polarity (PCP)… 10/1/2014 thaotram 12
  13. 13. In general: - Cysts arise from the nephrons and collecting tubules; microdissection reveals that the cysts communicate directly with the nephrons and collecting tubules. - Islands of normal parenchymal renal tissue are interspaced between the cysts 10/1/2014 thaotram 13
  14. 14. 10/1/2014 thaotram 14
  15. 15. 10/1/2014 thaotram 15
  16. 16. Clinical symptoms and signs • The most common symptoms are pain in the back and the sides (between the ribs and hips), and headaches. • The dull pain can be temporary or persistent, mild or severe. 10/1/2014 thaotram 16
  17. 17. Epidemiology • Mean age at diagnosis: 43 years (neonatal / infantile onset has been reported) • Present at birth: 1/400 to 1/1,000 babies, and it affects approximately 400,000 people in the United States. • 0.5 – 1% in population, 8 – 10% in transplanted or dialysis patients (Siêu âm tổng quát – thầy Quân) • Male : Female = 1:1 • Onset of cyst formation: – 54% in 1st decade – 72% in 2nd decade – 86% in 3rd decade 10/1/2014 thaotram 17
  18. 18. Associated with • Cysts in: liver (25-50%), pancreas (9%) • Aneurysm: saccular "berry" aneurysm of cerebral arteries (3-13%) • Mitral valve prolapse • Hypertension (50-70%) • Azotemia • Hematuria, proteinuria • Lumbar / abdominal pain 10/1/2014 thaotram 18
  19. 19. 10/1/2014 thaotram 19
  20. 20. COMPLICATIONS • Hypertension (++) • Gross hematuria • Infection (+++) • Kidney stones • Kidney failure: 50% by age 60 10/1/2014 thaotram 20
  21. 21. 10/1/2014 thaotram 21
  22. 22. How do we diagnose this disease? • By Ultrasonography • By X-ray • By CT • By MRI 10/1/2014 thaotram 22
  23. 23. Ultrasonography • Multiple cysts typically in both kidneys • The cysts are numerous and fluid-filled, good through transmission of the sound wave. • Multiple cysts in cortical region • Diffusely echogenic when cysts small (children) • Massive enlargement of the kidneys. • Echogenicity of both kidneys is increased • Normal parenchymal renal • Renal contour poorly demarcated •  go to clip 10/1/2014 thaotram 23
  24. 24. 10/1/2014 thaotram 24
  25. 25. STANDARD • The diagnostic criteria for individuals who have a 50 percent risk of developing ADPKD include: At least two unilateral (cysts in one kidney) or bilateral (cysts in both kidneys) cysts in individuals who are younger than age 30. At least two cysts in each kidney in individuals who are between 30 and 59 years. At least four cysts in each kidney in individuals who are 60 years old or older. 10/1/2014 thaotram 25
  26. 26. X-ray • Plain radiographic findings are normal in the early stages of ADPKD • Enlargement of the kidneys: soft-tissue masses that displace intra-abdominal organs. Renal enlargement is often asymmetrical, normal renal outlines cannot be traced. • Cysts may calcify in a curvilinear, ringlike, or amorphous manner. The presence of renal calculi may signify urinary tract infection 10/1/2014 thaotram 26
  27. 27. • Plain radiograph of the kidney, ureters, and bladder in a 50-year-old woman with autosomal dominant polycystic kidney disease. • The kidneys are enlarged with multiple curvilinear and ringlike calcifications arising from the renal cyst. • The surgical clip from renal transplant is seen projected over the left iliac wing. 10/1/2014 thaotram 27
  28. 28. • The pelvocaliceal systems demonstrate bilateral, diffuse irregularity and splaying. • The collecting system may be elongated, distorted, and attenuated. These changes are seen in the image below. 10/1/2014 thaotram 28
  29. 29. Computed Tomography • The cysts in (ADPKD) are fairly well-defined, round or oval masses with low attenuation values similar to those of water 10/1/2014 thaotram 29
  30. 30. Unenhanced axial computed tomography scan of the abdomen in a 45-year-old woman with autosomal dominant polycystic kidney disease. The scan shows numerous cysts of different sizes involving the kidneys, liver, and pancreas 10/1/2014 thaotram 30
  31. 31. Contrast-enhanced computed tomography scan in a 45-year-old woman with ADPKD(same patient as in the previous image) clearly demonstrates the cysts in the head of the pancreas 10/1/2014 thaotram 31
  32. 32. 10/1/2014 thaotram 32
  33. 33. Magnetic Resonance Imaging • Renal cysts show a homogeneous, low to intermediate signal intensity on T1-weighted images and a homogeneous, high signal intensity on T2-weighted images. • Cysts have thin, imperceptible walls. Renal cysts do not enhance with gadolinium-based contrast material. 10/1/2014 thaotram 33
  34. 34. and more • "Swiss cheese" nephrogram = multiple lesions of varying size with smooth margins • Polycystic kidneys shrink after beginning of renal failure, after renal transplantation, or on chronic hemodialysis 10/1/2014 thaotram 34
  35. 35. Differential Diagnosis • Multiple simple cysts + less diffuse, + no family history 10/1/2014 thaotram 35
  36. 36. • Multicystic dysplastic kidney • (a ) hydronephrotic and dysplastic kidney with echogenic and undifferentiated parenchyma and multiple dysplastic cortical cysts.  (b) cysts of varying size have no parenchymal outer rim, the lack of a normal collecting system, but some central echogenic‐dysplastic residual renal parenchyma, differentiation from a severe ureteropelvic junction obstruction (UPJO).  (c ) Contrast‐enhanced CT (late phase) of a segmental cystic nephroma. • d) usually associated with abnormal pelvocaliceal system 10/1/2014 thaotram 36
  37. 37. • Localized renal cystic disease: (rare) • involves only one kidney at a time • The condition is typically nonfamilial, does not cause renal functional impairment and does not require specific management 10/1/2014 thaotram 37
  38. 38. • Infantile PCKD : usually microscopic cysts < 3mm 10/1/2014 thaotram 38
  39. 39. • Von Hippel-Lindau disease + cerebellar hemangioblastoma, + retinal hemangiomas, + occasionally pheochromocytomas • Acquired uremic cystic disease + kidneys small + no renal function + transplant 10/1/2014 thaotram 39
  40. 40. The goals of treatment for patients with PKD • Managing and better controlling the symptoms of the disease. • Preventing progression of the disease to end-stage kidney disease. • Enabling the patient to maintain a reasonably good quality of life. • Prolonging survival 10/1/2014 thaotram 40
  41. 41. What we must remember • Meaning age: middle-age • Include many clinical complications: hypertension, gross hematuria, infection, kidney stones, kidney failure… • Family history • Multiple marcoscopy cysts in both kidneys, significantly or unsignificantly • Enlarged in size of both kidneys • Cysts in other organs  have to seek • Associate with CT Scanner and other means. 10/1/2014 thaotram 41
  42. 42. • Thank you for listening  10/1/2014 thaotram 42
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Adult polycystic kidney disease, review for radiologist

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