Inherited Kidney Disease

Question 1

Which mode of inheritance - autosomal dominant or recessive - is most common in polycystic kidney disease?

Answer 1

Autosomal dominant

Question 2

Polycystic kidney disease is the most common hereditary renal disease. True/False?

Answer 2

True

Question 3

Where is the mutation in polycystic kidney disease?

Answer 3

PKD1 on chromosome 16 (85%)

PKD2 on chromosome 4 (15%)

Question 4

PKD1 patients develop ESRF earlier than PKD2 patients. True/False?

Answer 4

True

Question 5

List clinical features of polycystic kidney disease

Answer 5

Oligouria
Chronic pain
Haematuria
Infection
Hypertension

Question 6

What is the most common extra-renal manifestation of polycystic kidney disease? When does it present?

Answer 6

Hepatic cysts

Present usually 10 years after renal cysts

Question 7

What manifestation of polycystic kidney disease can occur in the brain?

Answer 7

Intracranial aneurysms

Question 8

What investigations help diagnose polycystic kidney disease?

Answer 8

Ultrasound shows cysts + renal enlargement
CT/MRI where USS not clear
Genetic analysis

Question 9

Outline management of polycystic kidney disease

Answer 9

Control hypertension, hydration
Proteinuria reduction
Tolvaptan
Renal therapy - dialysis, transplant

Question 10

How does tolvaptan help in polycystic kidney disease?

Answer 10

Reduces cyst volume and progression

Question 11

Who does autosomal recessive polycystic kidney disease mainly affect? Which gene is involved?

Answer 11

Children

PKHD1 on chromosome 6

Question 12

Renal involvement is usually bilateral in autosomal recessive polycystic kidney disease. True/False?

Answer 12

True

Question 13

Where do cysts typically spread in the kidney in autosomal recessive polycystic kidney disease?

Answer 13

Collecting ducts

Question 14

What is Alport’s syndrome?

Answer 14

Hereditary X-linked nephritis due to defect in type IV collagen matrix, causing malformation

Question 15

List the clinical features of Alport’s syndrome

Answer 15

Haematuria
Proteinuria (late)
Sensorineural deafness
Anterior lenticonus (eyes)

Question 16

If a patient has haematuria with hearing loss, which syndrome must you suspect?

Answer 16

Alport’s syndrome

Question 17

Which investigations help diagnose Alport’s syndrome?

Answer 17

Renal biopsy

Question 18

Outline the management of Alport’s syndrome

Answer 18

No specific treatment (treat BP, proteinuria)
Dialysis
Transplantation

Question 19

What is Anderson Fabry’s disease?

Answer 19

X linked lysosomal storage disease involving an inborn error of glycosphingolipid metabolism (alpha-galactosidase deficiency)

Question 20

List the clinical features of Anderson Fabry’s disease

Answer 20

RF
Cutaneous angiokeratomas
Heart disease
Stroke

Question 21

How is Anderson Fabry’s disease diagnosed and managed?

Answer 21

Alpha GAL activity
Renal biopsy
Skin biopsy

Enzyme replacement (fabryzyme)

Question 22

What is medullary cystic kidney?

Answer 22

AD disease causing fibrosis of renal tubules leading to cysts in medulla

Question 23

How is medullary cystic kidney diagnosed and treated?

Answer 23

CT scan
Family history

Renal transplantation

Question 24

What is medullary sponge kidney?

Answer 24

Severe dilatation of collecting ducts leading to spongy medulla

Question 25

How is medullary sponge kidney diagnosed?

Answer 25

Excretion urography showing cysts with calculi