Conditions / Urinary
nephronophthisis 3
info · Urinary
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.
Signs and symptoms
- Stage 5 chronic kidney disease
- Tubulointerstitial fibrosis
- Nephronophthisis
- Failure to thrive
- Renal insufficiency
- Renal tubular atrophy
- Enuresis
- Renal corticomedullary cysts
- Polydipsia
- Polyuria
Also known as: NPH3; NPHP3