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Article

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.

Proceedings of the National Academy of Sciences of the United States of America - 26 May 1998

Karet F E, Gainza F J, Györy A Z, Unwin R J, Wrong O, Tanner M J, Nayir A, Alpay H, Santos F, Hulton S A, Bakkaloglu A, Ozen S, Cunningham M J, di Pietro A, Walker W G, Lifton R P

Abstract excerpt

Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either autosomal dominant or recessive transmission are described. Mutations in the chloride-bicarbonate exchanger AE1 have recently been reported in four autosomal dominant dRTA kindreds, three of these...

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Identifiers

PMID: 9600966
DOI: 10.1073/pnas.95.11.6337
PMCID: PMC27686

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