Autosomal dominant distal renal tubular acidosis
Autosomal dominant distal renal tubular acidosis
Definition
A distal renal tubular acidosis that is caused by the mutation in SLC4A1 gene and follows the autosomal dominant inheritance. It is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, nephrolithiasis, and metabolic bone disease.
Also known as AD dRTA, distal renal tubular acidosis (disease), autosomal dominant, DRTA1, renal tubular acidosis, distal 1, RTA, classic type, RTA, distal type, autosomal dominant, RTA, gradient type — per MONDO