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Renal > Inherited Kidney Disease > Flashcards

Inherited Kidney Disease Flashcards

1
Q

what is the most frequent life threatening hereditary kidney disease

A

autosomal dominant polycystic kidney disease

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2
Q

what is the most common inheritance of polycystic kidney disease

A

autosomal dominant

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3
Q

what are the genetic mutations associated with autosomal dominant polycystic kidney disease

A

PKD1 on chromosome 16 (most common)
PKD2 on chromosome 4
-has prognostic impact

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4
Q

which mutation means patients reach end stage kidney disease earlier

A

PKD1

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5
Q

what is the pathology of ADPKD

A
  • massive cyst enlargement leading to large kidneys
  • epithelial lined cysts arise from a small population of renal tubules
  • benign adenomas in 25% of kidneys (or cancers due to transformation)
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6
Q

what are clinical features of ADPKD

A
  • reduced urine concentration
  • chronic pain
  • hypertension (early symptom)
  • haematuria
  • cyst infection
  • renal failure
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7
Q

what are some extra renal clinical features of ADPKD

A
  • hepatic cysts (common and usually around 10 years after renal cysts)
  • intracranial aneurysms (less common, seen in family clusters)
  • cardiac disease
  • diverticular disease
  • hernias
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8
Q

what symptoms can liver cysts cause

A

shortness of breath, pain and ankle swelling

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9
Q

how is ADPKD diagnosed

A 
ultrasound
-multiple bilateral cysts
-renal enlargement
CT/MRI is USS is unclear
genetic
-linkage analysis to identify chromosomal mutations
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10
Q

in children how can ADPKD be distinguished from ARPKD

A

no suggestion of congenital hepatic fibrosis on ultrasound

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11
Q

how is ADPKD managed

A

HBP control, hydration, proteinuria reduction, prompt management of cyst haemorrhage and infection

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12
Q

what is the first drug used in PKD that is shown to slow loss of kidney function

A

tolvaptan (ADH receptor antagonist)

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13
Q

what is the genetic mutation for autosomal recessive polycystic kidney disease

A

PKDH1 on chromosome 6

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14
Q

what is seen histologically in ARPKD

A

cysts appearing from collecting duct system

-renal involvement is bilateral and symmetrical

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15
Q

what are clinical features of ARPKD

A

varies depending on liver/renal lesions

  • kidney always palpable
  • hypertension
  • recurrent UTI’s
  • slow decline in GFR
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16
Q

what is the inheritance of familial glomerular syndromes (alports syndrome (hereditary nephritis))

A

x-linked inheritance (85%)

17
Q

what is alports syndrome a disorder of

A

type 4 collagen matrix

18
Q

what mutation leads to deficient collagenous matrix deposition in alports syndrome

A

COL4A5

19
Q

what are clinical features of alports syndrome

A
  • heamaturia (characteristic)

- proteinuria (latter and bad sign)

20
Q

what are some extra-renal manifestations of alports syndrome

A
  • sensorineural deafness
  • ocular defects
  • leiomyomatosis of oesophagus/genitalia
21
Q

what is diagnosis of alports syndrome

A

renal biopsy (variable thickness GBM is characteristic)

22
Q

what is treatment for alports syndrome

A
  • hpb management
  • proteinuria management
  • dialysis/transplant
23
Q

what inheritance does anderson fabrys disease have

A

x-linked

24
Q

where does anderson fabrys disease affect

A

kidneys, liver, lungs, erythrocytes

25
Q

what is anderson fabrys disease

A

inborn error of glycosphingolipid metabolism (deficiency of a-galactosidase A)

26
Q

what is a cutaneous feature of anderson fabrys disease

A

angiokeratomas

27
Q

how is anderson fabrys disease diagnosed

A

concentric lamellar inclusions within lysosomes (pathogneumonic)

28
Q

how is anderson fabrys disease treated

A
  • enzyme replacement-Fabryzyme

- management of complications

29
Q

what is the inheritance of medullary cystic kidney disease

A

autosomal dominant

30
Q

what occurs in medullary cystic kidney disease

A

morphologically abnormal renal tubules leading to fibrosis

31
Q

what do the kidneys look like in medullary cystic kidney disease

A

normal/small kidneys

32
Q

where are cysts seen in medullary cystic kidney disease

A

corticomedullary junction/medulla

33
Q

what is diagnosis of medullary cystic kidney disease

A

family history and CT

34
Q

what is the average age to present with medullary cystic kidney disease

A

28

35
Q

what is the best treatment of polycystic kidney disease

A

transplant

36
Q

what happens in medullary sponge kidney

A
  • dilatation of collecting ducts
  • medulla looks like sponge
  • cysts have calculi
37
Q

how is medullary sponge kidney diagnosed

A

excretion urography to demarcate calculi

Renal (8 decks)

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