A neonate born at 36 weeks develops massive edema and ascites within the first week of life. Urine protein is 4+, serum albumin is 0.9 g/dL, and the placenta weighed more than 25% of the birth weight. Both parents are of Finnish descent. Which gene mutation is the most likely cause?

• A NPHS2 encoding podocin
• B PLCE1 encoding phospholipase C epsilon
• C WT1 encoding Wilms tumor suppressor
• D NPHS1 encoding nephrin ✓

Explanation

Congenital nephrotic syndrome of the Finnish type results from homozygous mutations in NPHS1, which encodes nephrin, a slit diaphragm protein. It presents in utero or within the first weeks with a large edematous placenta and severe proteinuria unresponsive to steroids. NPHS2 (podocin) mutations cause steroid-resistant nephrotic syndrome of later onset, typically in early childhood rather than the neonatal period.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.