Genetic Kidney Diseases

Question 1

four examples of genetic kidney diseases

Answer 1

1. Polycystic kidney disease (PKD)
2. Alport’s syndrome
3. Anderson Fabrys disease
4. Medullary cystic kidney disease

Question 2

mutations in ADPKD

Answer 2

PKD gene 1 chromosome 16 and some have PK2 on chromosome 4

Question 3

what is ADPKD?

Answer 3

there are lots of cysts in renal tubules leading to large kidneys

Question 4

presentation of ADPKD

Answer 4

reduced urine concentration ability
chronic pain
early hypertension
haematuria
cyst infection
stones
renal failure

Question 5

extra-renal associations with ADPKD

Answer 5

hepatic cysts
intra-cranial berry aneurysms
cardiac disease (mitral/aortic valve prolapse)
diverticular disease
abdominal/ inguinal hernias

Question 6

diagnosis of ADPKD

Answer 6

mass/ large ballotable kidneys
USS
genetics with mutation analysis

Question 7

what is seen on USS of ADPKD

Answer 7

multiple bilateral cysts

Question 8

management of ADPKD

Answer 8

genetic counselling (AD)
tolvaptan
control hypertension
hydration
renal failure management

Question 9

role of tolvaptan in ADPKD?

Answer 9

reduces cyst volume and progression

Question 10

genetics of ARPKD

Answer 10

gene PKDH1 on chromosome 6

Question 11

what is ARPKD

Answer 11

develops cysts in collecting ducts but the kidneys remain normal size

Question 12

diagnosis of ARPKD

Answer 12

USS

Question 13

what suggests ARPKD in children?

Answer 13

congenital hepatic fibrosis

Question 14

what is acquired cystic disease?

Answer 14

long-term dialysis develops small cysts

Question 15

what is Alport’s syndrome also called?

Answer 15

hereditary nephritis

Question 16

what is Alport’s syndrome/ hereditary nephritis?

Answer 16

X-linked disorder of type IV collagen on COL4A5 gene

Question 17

presentation of Alport’s syndrome/ hereditary nephritis?

Answer 17

haematuria and proteinuria seen later

Question 18

extra-renal associations with Alport’s syndrome/ hereditary nephritis?

Answer 18

SNHL (deafness)
anterior lenticonus (protrusion of lens into anterior chamber)
leiomyomatosis of oesophagus and genitalia

Question 19

diagnosis of Alport’s syndrome/ hereditary nephritis?

Answer 19

suspect in haematuria +/- hearing loss

renal biopsy shows variable thickness of GBM

Question 20

when is renal biopsy contra-indicated?

Answer 20

thrombocytopenia
small kidneys
uncontrolled hypertension
untreated UTI
coagulation defects

Question 21

management of Alport’s syndrome/ hereditary nephritis?

Answer 21

manage BP ad proteinuria

potentially dialysis/ transplant

Question 22

what is Anderson Fabrys disease?

Answer 22

X-linked lysosomal storage disease with deficient a-galactosiderase A

Question 23

what does Anderson Fabrys disease affect?

Answer 23

kidneys
lungs
liver
erythrocytes

Question 24

presentation of Anderson Fabrys disease

Answer 24

renal failure
cutaneous= angiokeratomas
cardiac= cardiomyopathy, valvular disease
neurological= stroke, acroparaesthesia

Question 25

diagnosis of Anderson Fabrys disease

Answer 25

plasma/ leukocyte a-GAL activity
renal biopsy
skin biopsy

Question 26

management of Anderson Fabrys disease

Answer 26

enzyme replacement= fabryzyme

Question 27

what is the genetics of medullary cystic kidney disease?

Answer 27

sporadic inheritance

Question 28

what is medullary cystic kidney disease?

Answer 28

dilatation of collecting ducts and cysts with calculi

Question 29

what is unusual in medullary cystic kidney disease?

Answer 29

renal failure

Question 30

diagnosis of medullary cystic kidney disease

Answer 30

excretion urography to demarcate calculi