Conditions / Genetic
Fanconi renotubular syndrome 5
info · Genetic
A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.
Signs and symptoms
- Tubulointerstitial fibrosis
- Genu valgum
- Hypophosphatemic rickets
- Stage 5 chronic kidney disease
- Aminoaciduria
- Glycosuria
- Proteinuria
- Decreased DLCO
- Hyperchloremic metabolic acidosis
- Pulmonary fibrosis
Also known as: Acadian-variant Fanconi syndrome