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Renal 2 > Cystic Diseases Of The Kidney > Flashcards

Cystic Diseases Of The Kidney Flashcards

1
Q

What is the inheritance pattern in adult polycystic kidney disease?

A

Autosomal dominant

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2
Q

What are the morphological findings in ADPKD?

A

Large multicystic kidneys, liver cysts, berry aneurysms.

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3
Q

What are the clinical features of ADPKD and what is the outcome of the disease?

A

Hematuria, flank pain, UTI, renal stones, HTN.

Chronic renal failure beginning at 40-60 y/0

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4
Q

What is the inheritance pattern of infant/ childhood polycystic kidney disease?

A

Autosomal recessive

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5
Q

What is the morphology of ARPKD?

A

Enlarged kidneys, cystic at birth.

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6
Q

What are the clinical features of ARPKD and outcome?

A

Hepatic fibrosis

Variable, death in infancy and childhood

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7
Q

What is the inheritance pattern of medullary sponge kidney?

A

No pattern.

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8
Q

What is the morphology and clinical features of medullary sponge kidney?

A
  • medullary cysts on excretory urography
  • Hematuria, UTI, recurrent renal stones

Outcome is benign

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9
Q

What is the inheritance of familial juvenile nephronopthisis?

A

Autosomal recessive

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10
Q

What is the morphology and clinical features of familial juvenile nephronopthisis?

A
  • Corticomedullary cysts, shrunken kidneys.
  • Salt wasting, polyuria, growth retardation.

Outcome-> progressive renal failure in childhood

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11
Q

What is the inheritance pattern in adult-onset nephronophthisis?

A

Autosomal Dominant

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12
Q

What is the morphology and clinical features of adult-onset nephronopthisis?

A
  • Corticomedullary cysts, shrunken kidneys
  • Salt wasting, polyuria

Outcome-> chronic renal failure-adult onset

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13
Q

What is the morphology and clinical features of simple cysts?

A
  • single or several cysts with normal sized kidneys
  • microscopic Hematuria

Benign outcome

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14
Q

What is the morphology and clinical features of acquired renal cystic disease?

A
  • Cystic degeneration in end-stage kidney
  • Hemorrhage, erythrocytosis, neoplasia

Dependent on dialysis

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15
Q

What is the morphology and clinical features of multicystic renal dysplasia?

A
  • Irregualr kidneys with cysts of various sizes
  • Assocaited with other renal anomalies

Outcome-> renal failure if bilateral, surgically curable if unilateral.

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16
Q

What chromosome does the PKD1 gene reside on and what percentage of overall cases of ADPKD does it make up?

A
  • Chromosome 16

- 85% of all cases

17
Q

What chromosome does the PKD2 gene reside on and what percentage of overall cases of ADPKS does it make up?

A
  • Chromosome 4

- 15%

18
Q

Which defective gene mutation in ADPKD has a better outcome?

A

PKD2, prolongs onset of end stage renal failure

19
Q

What are the assocaited extra-renal manifestations in ADPKD?

A

Hepatic cysts, berry aneurysm, mitral valve prolapse, diverticula disease of the colon.

20
Q

In most cases of ARPKD, what is the gene that is defective and what chromosome does it reside on?

A

PKHD on chromosome 6, which encodes the large novel protein fibrocystin.

21
Q

What are the characteristic findings in ARPKD?

A

Slightly enlarged kidneys exhibiting numerous small liner/radial arrayed cysts derived from dilated collecting ducts.

22
Q

What are the most common subtypes of ARPKD?

A

Perinatal (most common): 90% collecting ducts are cystic, minimal hepatic fibrosis, survive only a few hours.

Neonatal: 60% collecting ducts are cystic, mild hepatic fibrosis, generally live a few months after birth

23
Q

What group of diseases is considered the most common genetic cause of ESRD in adolescents and adults?

A

Nephronopthisis

24
Q

What are the two types of common real cysts?

A

1) Aquired (dialysis-assocaited) cysts

2) simple renal cysts

25
Q

What is associated with Aquired (dialysis-assocaited) cysts?

A
  • development of renal cell carcinoma, 7% of patients on dialysis for more than 10 years.
  • NORMAL is SIZE!
26
Q

What are the symptoms that present with nephrolithiasis?

A

Intense pain- renal colic

Ulceration and bleeding of ureter (or calyceal) mucosa

Obstruction of urinary flow

27
Q

What time of renal stone is most common?

A

Calcium oxalate and phosphate–>70%

28
Q

What is the second most common type of renal stone?

A

Magnesium ammonium phosphate (struvite) –>15-20%

29
Q

What is the third most common type of renal stone?

A

Uric acid ->5-10%

30
Q

What are some predisposing factors for kidney calculus formation?

A

Increased concentration of stone constituents
Change in urinary pH
Decreased urine volume
Presence of bacteria

Renal 2 (6 decks)

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