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Proximal renal tubular acidosis

Disease definition

A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.

ORPHA:47159

Classification level: Disorder
  • Synonym(s):
    • Renal tubular acidosis type 2
    • pRTA
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: All ages
  • ICD-10: N25.8
  • OMIM: 179830  604278
  • UMLS: C0268435
  • MeSH: -
  • GARD: -
  • MedDRA: 10037080

Detailed information

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