renal tubular acidosis, proximal, with ocular abnormalities and mental(redirected from proximal renal tubular acidosis with ocular abnormalities)
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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