renal tubular acidosis, proximal, with ocular abnormalities and mental

renal tubular acidosis, proximal, with ocular abnormalities and mental retardation

A 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.

Molecular pathology
Cacused by defects in SLC4A4, which encodes a sodium bicarbonate cotransporter involved in regulating intracellular pH.