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Autosomal dominant distal renal tubular acidosis
rareA 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.
- Identifiers
- MONDO:0008368 OMIM:179800Orphanet:93608
- Causal genes
- SLC4A1
- Also known as
- AD dRTA · autosomal dominant SLC4A1-associated distal renal tubular acidosis · distal renal tubular acidosis (disease), autosomal dominant · DRTA1 · renal tubular acidosis, distal 1
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