Mutation in NPHS 1 gene causes which disease?
Ans. (b) Congenital Finnish type nephrotic syndromeRef: Nelson 18th ed./ Table 527.1* CNF is one of the Finnish heritage diseases and rare form of nephrotic syndrome.* It occurs predominantly in families of Finnish origin and manifests shortly after birth* The condition is caused by a defect in the protein nephrin, which is found in the kidney.* Gene responsible is NPHSL.
Alport syndrome
Congenital Finnish type nephrotic syndrome
Focal segmental glomerulonephritis
Nail patella syndrome
Nephropathy