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Autosomal dominant distal renal tubular acidosis

MONDO:0008368

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, DRTA1, RTA, classic type, RTA, distal type, autosomal dominant, RTA, gradient type, distal renal tubular acidosis (disease), autosomal dominant, renal tubular acidosis, distal 1, autosomal dominant SLC4A1-associated distal renal tubular acidosis

1 clinical trial for this condition and its sub-types, 0 tagged with Autosomal dominant distal renal tubular acidosis itself.

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