renal tubular acidosis, distal, with normal red cell morphology

An autosomal recessive condition (OMIM:611590) characterised by reduced ability to acidify urine, resulting in variable hyperchloremic hypokalaemic metabolic acidosis, nephrocalcinosis and nephrolithiasis.
Molecular pathology
Caused by defects of SLC4A1, which encodes a protein with a glycosylated C-terminal membrane-associated domain that acts as an anion exchange transporter binding carbonic anhydrase II.

单词	renal tubular acidosis, distal, with normal red cell morphology
释义	renal tubular acidosis, distal, with normal red cell morphology renal tubular acidosis, distal, with normal red cell morphology An autosomal recessive condition (OMIM:611590) characterised by reduced ability to acidify urine, resulting in variable hyperchloremic hypokalaemic metabolic acidosis, nephrocalcinosis and nephrolithiasis. Molecular pathology Caused by defects of SLC4A1, which encodes a protein with a glycosylated C-terminal membrane-associated domain that acts as an anion exchange transporter binding carbonic anhydrase II.
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