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Autosomal recessive distal renal tubular acidosis

Disease definition

A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.

ORPHA:402041

Classification level: Subtype of disorder
  • Synonym(s):
    • AR dRTA
    • Autosomal recessive distal RTA
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: N25.8
  • OMIM: 267300  602722
  • UMLS: C1864498
  • MeSH: C537758
  • GARD: 4666
  • MedDRA: -

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

Detailed information

Guidelines

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

Disease review articles

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.