A baby born at 36 weeks has a placenta weighing 30 percent of birth weight, generalized edema within the first week of life, and urinary protein exceeding 40 mg/m2/hr. Both parents are of Finnish descent and consanguinity is present. Mutation in which gene is the most common cause of this presentation?
- A WT1
- B PLCE1
- C NPHS1 ✓
- D NPHS2
Correct answer: C. NPHS1
Explanation
Congenital nephrotic syndrome of the Finnish type presents in utero or in the first week of life with a large placenta (over 25 percent of birth weight) and massive edema, and results from homozygous mutations in NPHS1 encoding nephrin, the slit diaphragm protein. NPHS2 encodes podocin and typically causes steroid resistant nephrotic syndrome in older children, not the neonatal Finnish phenotype. WT1 mutation suggests Denys-Drash or Frasier syndrome with genital abnormalities.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.