AIIMS November 2011 – MCQ 67

Collection of Medicine MCQs (Cardiovascular system) for medical students. Concept based MCQs with detailed explanations which help students to gain valuable insights and gain an edge in competitive examinations. More than just answering MCQs, the explanations will improve the knowledge and understanding about the conditions discussed. Also useful for MD students who are preparing for Superspeciality entrance examinations. Medicine MCQs - Cardiovascular System Kindle Edition: Click Here for a Preview. Comments and suggestions are most welcome.

Gene mutation in idiopathic steroid resistant nephrotic syndrome is?
A. PAX
B. NPHS2
C. ALE
D. HOXII

Correct answer : B. NPHS2

Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. A causative gene for this disease, NPHS2, was mapped to 1q25-31 and we report here its identification by positional cloning. NPHS2 is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family. We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.

Ref: www.ncbi.nlm.nih.gov/pubmed/10742096

Nat Genet. 2000 Apr;24(4):349-54.
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C.

2 Comments

Add a Comment

Your email address will not be published. Comments will be displayed only after moderation.

Read previous post:
AIIMS November 2011 – MCQ 66

Which is not true regarding myelopathy? A. Sensory loss of facial area B. Brisk jaw jerk C. Brisk pectoral jerk...

Close