Mutation in NPHS 1 gene causes which disease?

Correct Answer: Congenital Finnish type nephrotic syndrome
Description: 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.
Category: Pediatrics
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