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Autosomal recessive proximal renal tubular acidosis

Orpha number ORPHA93607
Synonym(s) AR pRTA
Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
Prevalence Unknown
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
MeSH -
MedDRA -


Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a 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.

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