Conditions / Urinary

nephronophthisis 19

info · Urinary

A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.

Signs and symptoms

  • Cholestasis
  • Hepatomegaly
  • Splenomegaly
  • Stage 5 chronic kidney disease
  • Renal interstitial fibrosis
  • Bile duct proliferation
  • Hepatic fibrosis
  • Hyperechogenic kidneys
  • Nephronophthisis
  • Malformation of the hepatic ductal plate

Also known as: NPHP19