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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: -

  A summary on this disease is available in Deutsch (2014) Italiano (2014) Español (2022) Français (2022) Nederlands (2022) Polski (2014, pdf) Polski ()

Detailed information

Guidelines

  • Clinical practice guidelines
  • English (2021) - Nephrol Dial Transplant ERN

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.