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Autosomal dominant distal renal tubular acidosis

Disease definition

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.

ORPHA:93608

Classification level: Subtype of disorder
  • Synonym(s):
    • AD dRTA
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: N25.8
  • OMIM: 179800
  • UMLS: C2931885
  • MeSH: C538565
  • GARD: 4668
  • MedDRA: -

Detailed information

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