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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
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.

The precise prevalence is unknown but it is thought to be a rare disease.

As in other forms of pRTA, hyperchloremic acidosis is a presenting feature and onset usually occurs in childhood. Manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual deficiency and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.

AR pRTA is due to a mutation in the SLC4A4 gene on chromosome 4q13.3 that encodes the sodium bicarbonate cotransporter, member 4 (NBCe1). This protein has three isoforms: NBCe1-A, NBCe1-B and NBCe1-C, with NBCe1-A being expressed in the kidney and eyes.

AR pRTA is inherited autosomal recessively and genetic counseling is possible.

Expert reviewer(s)

  • Dr Daniel BATLLE
  • Dr Syed HAQUE

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Detailed information

Review article
  • EN (2012)
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