Conditions / Genetic
autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss
info · Genetic
A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in th
A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34.
Signs and symptoms
- Distal renal tubular acidosis
- Hypokalemia
- Nephrocalcinosis
- Hypercalciuria
- Vomiting
- Failure to thrive
- Dehydration
- Growth delay
- Metabolic acidosis
- Bilateral sensorineural hearing impairment