congenital nephrotic syndrome
Nephrotic syndrome presenting within the first 3 months of life, typically caused by genetic mutations affecting podocyte function.
Full Definition
Congenital nephrotic syndrome is defined as nephrotic syndrome presenting within the first 3 months of life, characterized by massive proteinuria, hypoalbuminemia, and edema in newborns and young infants. The most common cause is Finnish-type congenital nephrotic syndrome due to mutations in the NPHS1 gene encoding nephrin, but other genetic causes include mutations in NPHS2 (podocin), LAMB2 (laminin β2), and WT1 (Wilms tumor 1). Clinical presentation includes prenatal manifestations such as elevated maternal alpha-fetoprotein and large placenta, followed by postnatal failure to thrive, massive edema, and complications including infections, thromboembolism, and growth failure. The condition typically progresses rapidly to end-stage renal disease, requiring eventual bilateral nephrectomy and kidney transplantation. Management focuses on supportive care including albumin infusions, diuretics, and nutritional support.
Usage
Usage note: Distinguish from early-onset nephrotic syndrome (3-12 months) and specify genetic subtype when known.
In Context
- "Genetic testing confirmed congenital nephrotic syndrome with homozygous NPHS1 mutations." — Pediatric genetics report
- "The infant with congenital nephrotic syndrome underwent bilateral nephrectomy at 18 months due to intractable proteinuria." — Surgical consultation note