Inherited Disorders of Kidneys

Question 1

What is the most frequent life threatening hereditary disease?

Answer 1

Autosomal Dominant Polycystic kidney disease

Question 2

In 85% of ADPKD, where is the mutation?

Answer 2

chromosome 16

Question 3

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

Answer 3

chromosome 4

Question 4

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

Answer 4

PKD1

Question 5

What causes haematuria in ADPKD?

Answer 5

cyst rupture, stones, cystitis

Question 6

What are extra renal features of ADPKD?

Answer 6

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

Question 7

What is first line for diagnosing ADPKD?

Answer 7

US

only CT/MRI if unsuccessful

Question 8

Is a single cyst enough for a diagnosis of ADPKD?

Answer 8

yes, if patient is high risk

Question 9

What chance are children at of ADPKD if family history?

Answer 9

50%

Question 10

How should hypertension be managed in ADPKD patients?

Answer 10

Ace Is

Question 11

What chromosome is involved in ARPKD?

Answer 11

chromosome 6

Question 12

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

Answer 12

X linked

Question 13

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

Answer 13

Alports

Question 14

Which cystic disease is a lysosomal storage disease?

Answer 14

Fabry’s

Question 15

What are angiokeratomas and what are they associated with?

Answer 15

dark red clusters in umbilical area

Fabry’s disease

Question 16

What treatment is given for Fabry’s?

Answer 16

enzyme replacement (Fabryzyme)

Question 17

What does an ultrasound show in Alport’s syndrome?

Answer 17

variable thickness of GBM

Question 18

What does medullary cystic kidney disease look like?

Answer 18

kidneys are small, shrunken

Question 19

How old do patients with medullary cystic disease normally present?

Answer 19

28 ish

Question 20

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

Answer 20

medullary sponge kidney

Question 21

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

Answer 21

polycystic kidney disease