Open AccessIncomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene
Author(s) -
Romana Ryšavá,
Vladimı́r Tesař,
M Jirsa,
V Brabec,
Petr Jarolı́m
Publication year - 1997
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/12.9.1869
Subject(s) - band 3 , distal renal tubular acidosis , medicine , urinary system , renal tubular acidosis , urine , metabolic acidosis , acidosis , nephron , bicarbonate , mutation , endocrinology , kidney , hereditary spherocytosis , gene , biochemistry , biology , membrane , membrane protein
Band 3 (anion exchanger 1, AE1) is one of the most abundant proteins of the erythrocyte membrane. We have previously characterized twenty AE1 gene defects underlying spherocytic haemolytic anaemia with band 3 deficiency. Since AE1 is also expressed in the intercalated cells of renal cortical collecting ducts where it is thought to participate in urine acidification, we asked whether the spherocytogenic AE1 mutations also affect the regulation of urine acidity.
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