Autosomal recessive proximal renal tubular acidosis

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Synonyms: AR pRTA | Proximal renal tubular acidosis with ocular abnormalities and intellectual disability

A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy glaucoma and cataracts) intellectual disability and severe growth retardation. Other features like dental enamel defects basal ganglia calcification and pancreatitis are sometimes present.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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