Inherited Kidney Disease

Question 1

polycystic kidney disease can be…

Answer 1

autosomal dominant or recessive

Question 2

ADPKD aetiology

Answer 2

Chr 16- PKD1 gene mutation most common mutation

Question 3

ADPKD s/s

Answer 3

very massive cysts, pain, may have cardiac or diverticular disease

Question 4

ADPKD morbidity

Answer 4

reduced renal function
hepatic cysts- late in disease process
intra-cranial aneurysm

Question 5

dx for ADPKD

Answer 5

USS- many cysts seen + renal enlargement

genetic check

Question 6

mx for ADPKD

Answer 6

HT control, hydration, proteinuria reduction

tolvaptan (reduced vol of cysts)

Question 7

ARPKD epi

Answer 7

young kids

Question 8

what are ARPKD kidneys like

Answer 8

smooth and of normal size

Question 9

s/s of ARPKD

Answer 9

symmetrical renal involvement, liver cysts**

Question 10

what are 4 familial glomerual syndromes

Answer 10

Alports Syndrome, Anderson Fibres Disease, Medullary Cystic Disease, Medullary Sponge Disease

Question 11

s/s of Alports

Answer 11

proteinuria, haematuria, sensorineural deafness, ocular defects

Question 12

what is Anderson-Fabrys

Answer 12

lysosomal storage disease affecting kidneys, lung, liver, erythrocytes, skin.

Question 13

tx for Anderson-Fabrys..

Answer 13

fabryzyme

Question 14

what is medullary cystic disease

Answer 14

rare disease resulting in cysts in the medulla of kidneys

Question 15

what is medullary sponge disease

Answer 15

dilatation of collecting ducts- medulla appears as sponge