Conditions / Genetic
proximal renal tubular acidosis-ocular anomaly syndrome
info · Genetic
A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13.
Signs and symptoms
- Hyperamylasemia
- Band keratopathy
- Short stature
- Cataract
- Decreased serum bicarbonate concentration
- Impaired renal tubular reabsorption of bicarbonate
- Hypokalemia
- Growth delay
- Cerebral calcification
- Proximal renal tubular acidosis