Dobson Renal Path #6

Question 1

Autosomal Dominant Polycystic Kidney Disease?

Answer 1

• multiple cysts grow and deestroy renal parenchyma
• 10% of ESRD cases needing transplant
• Bilateral
• cysts involve minority of nephron so renal function is intact until 40-50 yo

Question 2

what mutations are associated with AD Polycistic kidney disease?

Answer 2

• PKD1 on chromosome 16p13.3 for protein polycystin 1
  
  • accounts for 85%
• PKD2 on chromosome 4q21 for protein polycystin2, integral membrane protein and functions as Ca channel
  
  • accounts for 15%

Question 3

Clinical features of ADPCKD?

Answer 3

• palpation kidneys
• hematuria
• proteinuria
• polyruia
• hypertension
• some are asx until end stage
• Hemorrhage or dilation of cysts producing pain

Question 4

What brain issue is associated with AD polycystic kidney disease?

Answer 4

formation saccular aneurysms in circle of willis

Question 5

What cardiac anomalies are associated with Polycystic kidney disease?

Answer 5

MVP and other valvular anomalies in 20-25% of patients

Question 6

Autosomal recessive Polycystic Kidney Disease (ARPKD)

Answer 6

• kidneys are enlarged and have smooth sponge like appearance compared to adults having bumpy cystic looking cysts
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Question 7

What mutation causes autosomal recessive polycystic disease?

Answer 7

• PKHD1 gene that encodes fibrocystiin

Question 8

Nephronophthisis? What causese renal insufficiency?

Answer 8

• progressive renal disorders with cysts in the medulla concentrated at the cortiocomedullary junction
• Cortical tubulointerstitial damage is cause of renal insufficiency
• AR inheritance

Question 9

What genes are mutated in juvenile forms of nephronophthisis?

Answer 9

NPHP1 to NPHP11 which encode for the protein nephrocystin JBT2&3&9&11

Question 10

How do you diagnose Nephronophthisis?

Answer 10

• kids or adolescents with unexplained chronic renal failure, positive family history aned chronic tublointerstitial nephritis on biopsy
• Presents with polyruia and polydipsia with defect in concentrationi

Question 11

Multicystic renal dysplasia?

Answer 11

enlarged and very irregular multicystic kidneys

Undifferentiated mesenchyme, usually cartilage, immature collecting ducts on histology

Question 12

Describe simple cysts

Answer 12

• usually involve cortex
• rneal cysts in contrast to rumors have smooth contours and are almost always avascualr and give fluid rather than solid signals on US

Question 13

what does medullary sponge kidney refer to? What is seen grossly and pathogenesis?

Answer 13

• multiple cystic dilations of the collecting ducts in the medulla
• Occurs in adults and is discovered radiographically
• Gross inspection papillary ducts in medullar dilated and small cystss present
• Unknown pathogenesis

Question 14

As a group, what is the most common genetic cause of ESRD in kids and young adults?

Answer 14

Nephronopthisis

Question 15

What makes you suspect nephronopthisis?

Answer 15

• age
• unexplained chronic renal failure in kids or young adults
• family history

Question 16

Multicystic renal dysplasia

Answer 16

• unilateral or bilateral
• enlarged very irregular kidney with multiple cysts of different sizes
• presence of islands of undifferentiated mesenchyme wit hcartilage and immature collecting ducts
• other lower urinary tract anomalies
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