Conditions / Urinary
nephronophthisis 1
info · Urinary
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.
Signs and symptoms
- Nephronophthisis
- Hyposthenuria
- Stage 5 chronic kidney disease
- Tubulointerstitial fibrosis
- Tubular basement membrane disintegration
- Renal tubular atrophy
- Polydipsia
- Anemia
- Hypertension
- Renal corticomedullary cysts
Also known as: NPH1; NPHP1; juvenile nephronophthisis 1