Autosomal dominant distal renal tubular acidosis

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Autosomal dominant distal renal tubular acidosis

Synonyms: AD dRTA

A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria polydipsia muscle weakness and fatigue. Osteomalacia or osteopenia hypercalciuria nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Autosomal dominant distal renal tubular acidosis?

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