renal tubular acidosis, proximal, with ocular abnormalities and mental(redirected from RTA, proximal, autosomal recessive)
renal tubular acidosis, proximal, with ocular abnormalities and mental retardationA rare autosomal recessive condition (OMIM:604278) caused by impaired bicarbonate absorption in the proximal tubule (proximal renal tubular acidosis), and reduced renal HCO3- threshold. It is clinically characterised by short stature, profound pRTA, mental retardation, bilateral glaucoma, cataracts and band keratopathy.
Cacused by defects in SLC4A4, which encodes a sodium bicarbonate cotransporter involved in regulating intracellular pH.
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