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Autosomal recessive proximal renal tubular acidosis

Disease definition

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.

ORPHA:93607

  • Synonym(s):
    • AR pRTA
    • Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 604278
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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