nephrin and Failure-to-Thrive

Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%.. This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis.. Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases.

Topics: Albumins; Diuretics; Failure to Thrive; Genetic Testing; Humans; Infant; Infusions, Intravenous; Male; Membrane Proteins; Mutation, Missense; Nephrotic Syndrome; Peritoneal Dialysis; Referral and Consultation