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.

单词	renal tubular acidosis, proximal, with ocular abnormalities and mental
释义	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.
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