nephrotic syndrome type 2

A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chrom

A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.

Signs and symptoms

• Nephrotic syndrome
• Proteinuria
• Stage 5 chronic kidney disease
• Edema
• Hyperlipidemia
• Focal segmental glomerulosclerosis
• Hypoalbuminemia

Also known as: steroid-resistant autosomal recessive nephrotic syndrome