Conditions / Genetic
nephrotic syndrome type 1
info · Genetic
A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
Signs and symptoms
- Nephrotic syndrome
- Hypoproteinemia
- Hypoalbuminemia
- Anasarca
- Hypercholesterolemia
- Proteinuria
- Hyperlipidemia
- Pyloric stenosis
- Renal insufficiency
- Gastroesophageal reflux
Also known as: Finnish congenital nephrosis