Dobson Renal Path #6 Flashcards

1
Q

Autosomal Dominant Polycystic Kidney Disease?

A
  • 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
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2
Q

what mutations are associated with AD Polycistic kidney disease?

A
  • 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%
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3
Q

Clinical features of ADPCKD?

A
  • palpation kidneys
  • hematuria
  • proteinuria
  • polyruia
  • hypertension
  • some are asx until end stage
  • Hemorrhage or dilation of cysts producing pain
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4
Q

What brain issue is associated with AD polycystic kidney disease?

A

formation saccular aneurysms in circle of willis

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5
Q

What cardiac anomalies are associated with Polycystic kidney disease?

A

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

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6
Q

Autosomal recessive Polycystic Kidney Disease (ARPKD)

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

What mutation causes autosomal recessive polycystic disease?

A
  • PKHD1 gene that encodes fibrocystiin
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8
Q

Nephronophthisis? What causese renal insufficiency?

A
  • progressive renal disorders with cysts in the medulla concentrated at the cortiocomedullary junction
  • Cortical tubulointerstitial damage is cause of renal insufficiency
  • AR inheritance
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9
Q

What genes are mutated in juvenile forms of nephronophthisis?

A

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

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10
Q

How do you diagnose Nephronophthisis?

A
  • 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
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11
Q

Multicystic renal dysplasia?

A

enlarged and very irregular multicystic kidneys

Undifferentiated mesenchyme, usually cartilage, immature collecting ducts on histology

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12
Q

Describe simple cysts

A
  • 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
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13
Q

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

A
  • 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
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14
Q

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

A

Nephronopthisis

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15
Q

What makes you suspect nephronopthisis?

A
  • age
  • unexplained chronic renal failure in kids or young adults
  • family history
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16
Q

Multicystic renal dysplasia

A
  • 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
    *