A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.

Abstract excerpt

RATIONALE: Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis of a child with CNS. PATIENT CONCERNS: A 31-day-old male infant with diarrhea for 25 days and generalized edema for more than 10 days. There was no...

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• East Asian People
• Infant
• Membrane Proteins
• Mutation
• Nephrotic Syndrome