nephronophthisis 13

A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.

Signs and symptoms

• Stage 5 chronic kidney disease
• Intrahepatic bile duct dilatation
• Proteinuria
• Glomerular subepithelial immune-complex deposits
• Multilamellation of medullary peritubular capillary basement membranes
• Global glomerulosclerosis
• Renal hypoplasia
• Renal interstitial fibrosis
• Glomerular sclerosis
• Nephronophthisis

Also known as: NPHP13