Conditions / Syndrome
Senior-Loken syndrome 1
info · Syndrome
A Senior-Loken syndrome that has_material_basis_in homozygous mutation in the NPHP1 gene on chromosome 2q13.
Signs and symptoms
- Tubulointerstitial fibrosis
- Thickening of the tubular basement membrane
- Retinal dystrophy
- Stage 5 chronic kidney disease
- Nephronophthisis
- Polydipsia
- Anemia
- Impaired renal concentrating ability
- Polyuria
- Elevated circulating creatinine concentration