Inherited Renal Disorders

Question 1

What is the most common inheritance of polycystic kidney disease

Answer 1

autosomal dominant

Question 2

what is the most frequent life threatening hereditary kidney disease

Answer 2

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Question 3

which chromosomes are the mutated genes found on in ADPKD

Answer 3

• chromosome 16 (PKD gene1)
• chromosome 4 (PKD2)

Question 4

who develops end stage kidney failure earlier, patients with PKD1 mutation or PKD2 mutation?

Answer 4

PKD1 mutation

Question 5

a) what size are normal kidneys
b) what size can they be in ADPKD

Answer 5

a) around 12cm
b) 20-25cm!

Question 6

where do epithelial lined cysts arise from in ADPKD

Answer 6

a small population of renal tubules

Question 7

ADPKD clinical features (renal)

Answer 7

• reduced urine concentration ability
• chronic pain
• hypertension
• haematuria
• cyst infection
• progression leads to renal failure

Question 8

why may someone with ADPKD have haematuria

Answer 8

• cyst rupture
• cystitis
• stones

Question 9

what is the most common ADPKD extra renal manifestation

Answer 9

liver cysts

Question 10

what percentage of ADPKD patients have intracranial aneurysms

Answer 10

4-8%

Question 11

give 5 extra renal clinical features of ADPKD

Answer 11

• liver cysts
• intracranial aneurysms
• cardiac disease (valve prolapse, valvular disease)
• diverticular disease
• hernias

Question 12

what imaging is used to diagnose ADPKD

Answer 12

ultrasound

Question 13

how many cysts are enough for diagnosis of ADPKD

Answer 13

2 or 3
(1 is enough in a high risk child)

Question 14

what feature is seen more in autosomal recessive PKD as opposed to autosomal dominant

Answer 14

liver fibrosis

Question 15

drug for ADPKD

Answer 15

tolvaptan

Question 16

which chromosome is the faulty gene (PKDH1) found in ARPKD

Answer 16

chromosome 6

Question 17

in ARPKD, histologically, where are cysts seen appearing from?

Answer 17

the collecting duct system

Question 18

are kidneys palpable in ARPKD

Answer 18

yes

Question 19

Alports inheritance

Answer 19

x linked

Question 20

what is Alports syndrome a disorder of

Answer 20

type IV collagen matrix

Question 21

which gene is the mutation in in alports

Answer 21

COL4A5

Question 22

Alports syndrome manifestations

Answer 22

• haematuria
• proteinuria (seen later, confers bad prognosis)
• sensorineural deafness
• ocular defects (anterior lenticonus)
• leiomyomatosis of oesophagus/genitalia - rare

Question 23

patient with microscopic haematuria +/- hearing loss, what should you suspect?

Answer 23

Alports syndrome

Question 24

Treatment of Alports

Answer 24

no specific treatment
- standard aggressive treatment of BP, proteinuria
- dialysis/transplantation eventually

Question 25

what is the deficiency in Anderson Fabry’s disease

Answer 25

a-galactosidase A

Question 26

what does Anderson Fabry’s disease affect

Answer 26

• kidneys
• liver
• lungs
• erythrocytes

Question 27

fabry’s disease clinical features renal

Answer 27

• renal failure

Question 28

fabry’s disease cutaneous clinical feature

Answer 28

angiokeratomas

Question 29

fabry’s disease cardiac clinical features

Answer 29

• cardiomyopathy
• valvular disease

Question 30

fabry’s disease neuro clinical features

Answer 30

• stroke
• acroparaesthesia

Question 31

fabry’s disease treatment

Answer 31

• enzyme replacement - fabryzyme
  and management of complications

Question 32

Medullary Cystic Kidney inheritance

Answer 32

autosomal dominant

Question 33

what’s the issue in Medullary Cystic Kidney

Answer 33

morphologically abnormal renal tubules leading to fibrosis

Question 34

where are cysts found in Medullary Cystic Kidney

Answer 34

corticomedullary junction / medulla

Question 35

diagnosis of Medullary Cystic Kidney

Answer 35

• family history
• CT scan

Question 36

where does Medullary Sponge Kidney get its name

Answer 36

in severe cases, medullary area appears like a sponge

Question 37

is renal failure common in medullary sponge kidney

Answer 37

no