nephrotic syndrome type 22

A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basem

A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3.

Signs and symptoms

• Stage 5 chronic kidney disease
• Nephrotic syndrome
• Microscopic hematuria
• Hypoproteinemia
• Generalized edema
• Nephrotic range proteinuria
• Glomerular sclerosis
• Podocyte foot process effacement
• Thickened glomerular basement membrane

Also known as: NPHS22