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