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Congenital Nephrotic Finnish NPHS1 — ESENeph MCQ

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HardGlomerulonephritisCongenital Nephrotic Finnish NPHS1ESENeph

A 30-year-old boy transitioning from paediatric to adult nephrology services has congenital nephrotic syndrome diagnosed in infancy. He had bilateral nephrectomy and transplant at age 3. His native disease was caused by a NPHS1 mutation. What was his original condition?

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Correct answer: B — Congenital nephrotic syndrome of the Finnish type – caused by NPHS1 mutations encoding nephrin, a critical slit diaphragm protein; bilateral nephrectomy and transplant is the standard approach as the disease does not respond to immunosuppression

Congenital nephrotic syndrome of the Finnish type (CNF) is caused by autosomal recessive mutations in NPHS1 (encoding nephrin – a key component of the podocyte slit diaphragm). It presents with massive proteinuria from birth, requiring albumin infusions, nutritional support, and eventually bilateral nephrectomy followed by dialysis and kidney transplantation (usually by age 1-3 years). Importantly, it does NOT recur in the transplant because the donor kidney has normal nephrin. Understanding this at adult transition is important for transplant management and genetic counselling.

Reference: KDIGO 2021 – GN; Kestila et al 1998 – NPHS1