Autosomal recessive proximal renal tubular acidosis
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Autosomal recessive proximal renal tubular acidosis?
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