renal tubular acidosis, distal, autosomal dominant

An autosomal dominant condition (OMIM:179800) characterised by a 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, autosomal dominant
释义	renal tubular acidosis, distal, autosomal dominant renal tubular acidosis, distal, autosomal dominant An autosomal dominant condition (OMIM:179800) characterised by a 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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