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Flashcards in Inherited Disorders of Kidneys Deck (21):
1

What is the most frequent life threatening hereditary disease?

Autosomal Dominant Polycystic kidney disease

2

In 85% of ADPKD, where is the mutation?

chromosome 16

3

In the remaining 15% of ADPKD, where is the mutation?

chromosome 4

4

Does PKD1 (ch.16) or PKD2 (ch.4) develop ESKF earlier?

PKD1

5

What causes haematuria in ADPKD?

cyst rupture, stones, cystitis

6

What are extra renal features of ADPKD?

liver cysts (10 yrs after renal cysts)
intra cranial aneurysms
cardiac disease
diverticular disease
hernias

7

What is first line for diagnosing ADPKD?

US
(only CT/MRI if unsuccessful)

8

Is a single cyst enough for a diagnosis of ADPKD?

yes, if patient is high risk

9

What chance are children at of ADPKD if family history?

50%

10

How should hypertension be managed in ADPKD patients?

Ace Is

11

What chromosome is involved in ARPKD?

chromosome 6

12

What is the inheritance link in Alporrt's and Fabry's?

X linked

13

Which cystic disease is caused by mutation leading to Type IV collagen matrix disorder?

Alports

14

Which cystic disease is a lysosomal storage disease?

Fabry's

15

What are angiokeratomas and what are they associated with?

dark red clusters in umbilical area
Fabry's disease

16

What treatment is given for Fabry's?

enzyme replacement (Fabryzyme)

17

What does an ultrasound show in Alport's syndrome?

variable thickness of GBM

18

What does medullary cystic kidney disease look like?

kidneys are small, shrunken

19

How old do patients with medullary cystic disease normally present?

28 ish

20

Which disease involves dilatation of collecting ducts and medullary spongy area?

medullary sponge kidney

21

What type of kidney disease allows for patients to do well on dialysis and transplant compared to other types of renal disease?

polycystic kidney disease