Conditions / Genetic

polycystic kidney disease 8

info ยท Genetic

An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11.

Signs and symptoms

  • Renal insufficiency
  • Focal segmental glomerulosclerosis
  • Polydipsia
  • Hyperechogenic kidneys
  • Left ventricular hypertrophy
  • Polyuria
  • Stage 5 chronic kidney disease
  • Hypertension
  • Enlarged kidney
  • Nephronophthisis