Inherited conditions

Question 1

Allport’s syndrome

Answer 1

X-linked kidney disease and deafness

Question 2

Mutations in ADPKD

Answer 2

PKD1 on chromosome 16 (earlier ESRF)

PKD2 on chromosome 4

Question 3

Pathology of ADPKD

Answer 3

Epithelial lined cysts in renal tubules

Benign adenomas

Question 4

Features of ADPKD

Answer 4

Reduced urine concentrating ability
Chronic pain
HT
Haematuria
Cyst infection
Renal failure

Question 5

Extra-renal features of ADPKD

Answer 5

Hepatic cysts (non-functional) = ankle swelling, SOB, pain
Intra-cranial aneurysm (FH)
CVD (valve disease)
Diverticular disease
Abdo/inguinal hernias

Question 6

Diagnosis of ADPKD

Answer 6

US (CT/MRI if unclear on US)

Genetic analysis

Question 7

Management of ADPKD

Answer 7

HT control
Hydration
Reduce proteinuria
Tolvaptan (aquaretic - ADH rec antagonist)
Dialysis/transplant
Counselling

Question 8

ADPKD in kids

Answer 8

Single cyst enough for diagnosis
Cerebral aneurysm in kids rare
Hepatic fibrosis suggests recessive

Question 9

ARPKD

Answer 9

Young kids, hepatic lesions/fibrosis
Symmetrical bilateral
Rare

Question 10

Mutations in ARPKD

Answer 10

PKDH1 on chromosome 16

Question 11

Pathology of ARPKD

Answer 11

Cysts from collecting system

Question 12

Clinical features of ARPKD

Answer 12

Palpable kidneys
HT
Recurrent UTIs
Slow decline in GFR
High mortality

Question 13

Medullary cystic kidney

Answer 13

Rare inherited cystic disease - autosomal dominant

Presents 28 years

Question 14

Pathology of medullary cystic kidney

Answer 14

Abnormal renal tubules leading to fibrosis
Cysts in corticomedullary junction/medulla
Shrunken

Question 15

Diagnosis of medullary cystic kidney

Answer 15

FH

CT

Question 16

Treatment for medullary cystic kidney

Answer 16

Transplant

Question 17

Medullary sponge kidney

Answer 17

Uncommon, sporadic cystic disease

Question 18

Pathology of medullary sponge kidney

Answer 18

Dilated CDs
Medulla looks like a sponge
Cysts have calculi

Question 19

Diagnosis of medullary sponge kidney

Answer 19

Excretion urography (demarcates stones)

Question 20

Pathology of Alport’s syndrome

Answer 20

Disorder of type IV collagen = deficient collagen matrix

Question 21

Clinical features of Alport’s

Answer 21

Haematuria and Proteinuria
SNL hearing loss
Leiomyomatosus of oesophagus/genitals (smooth muscle tumour)

Question 22

Diagnosis of Alport’s

Answer 22

Biopsy = variable thickness GBM

Question 23

Treatment of Alport’s

Answer 23

Aggressive treatment of BP and proteinuria

Dialysis/transplant

Question 24

Anderson Fabry’s disease

Answer 24

Inborn error of glycosphingolipid metabolism
X-linked lysosomal storage disease
Affects kidneys, liver, lungs, RBCs

Question 25

Diagnosis of Anderson-Fabry’s

Answer 25

Plasma a-GAL activity
Renal and skin biopsy
Lamellar inclusions in lysosymes

Question 26

Clinical features of Anderson-Fabrys

Answer 26

Renal failure
Cutaneous: angiokeratomas (telangiectasia)
Cardiac: cardiomyopathy, valvular disease
Neuro: stroke, acroparaesthesia
Psychiatric

Question 27

Treatment of Anderson-Fabrys

Answer 27

Enzyme replacement - Fabryzyme