Autosomal recessive distal renal tubular acidosis
Autosomal recessive distal renal tubular acidosis
Definition
The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
Also known as AR dRTA, autosomal recessive distal renal tubular acidosis (disease), autosomal recessive distal RTA, distal renal tubular acidosis (disease), autosomal recessive — per MONDO