Conditions / Urinary
nephronophthisis 2
info · Urinary
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.
Signs and symptoms
- Stage 5 chronic kidney disease
- Chronic tubulointerstitial nephritis
- Oligohydramnios
- Pulmonary hypoplasia
- Absence of renal corticomedullary differentiation
- Hyperkalemia
- Nephronophthisis
- Pulmonic regurgitation
- Respiratory insufficiency
- Hyperechogenic kidneys
Also known as: NPH2; NPHP2; infantile nephronophthisis 2