Genetics, cystic disease etc

Question 1

Commonest genetic abnormality of Congenital nephrotic syndrome

Answer 1

-nephrin(NPHS1) and podocin(NPHS2) gene

Question 2

Commonest gene abnormalities in adult in familial FSGS

Answer 2

compose total of 1/3rd cases all autosomal dominant

• Inverted formin 2
• TRPC6
• alpha actinin 4

Question 3

What does WT1 gene abnormality does?

Answer 3

children: syndromic form Denys Drash and Fraisier syndrome
Adults: renal limited non syndromic FSGS

Question 4

Which gene is involved in nail patella syndrome?

Answer 4

-LMX1b

Question 5

What genes are involved in AD tubulointersitial kidney diseases?

Answer 5

-uromodulin, renin, mucin 1

Question 6

What is the most common renal manifestation of Sarcoidosis?

Answer 6

Hypercalciuria > nephrolithiasis> granulomatous AIN

Question 7

Who should you consider screening for aneurysm in ADPKD other than one with family history of aneurysm?

Answer 7

high risk occupations like pilots, those undergoing major elective surgery, those with warning headache

Question 8

Contiguous gene syndrome in PKD?

Answer 8

TSC2 gene lies near to PKD1 gene on chromosome 16, both can be affected while deletion> severe PCKD+ TSC manifestations