Nephrology Dialysis Transplantation, Vol 12, Issue 9 1869-1873, Copyright © 1997 by Oxford University Press
R Rysava, V Tesar, M Jirsa, V Brabec and P Jarolim
Background. 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. Methods. We examined 10 patients from seven
unrelated families with hereditary spherocytosis with band 3 deficiency
using the short urine acidification test with CaCl2 administration at a
dose of 0.2 g/g b.w. To assess the ability of the nephron to secrete
protons, 400 mol of NaHCO3 were infused over a period of 2 h.
Results. While we detected no significant
abnormalities in eight patients, we have diagnosed incomplete distal renal
tubular acidosis (dRTA) in two patients from one family whose urinary pH 5
h after a CaCl2 administration were 6.65 and 6.89. Administration of
bicarbonate in these two patients resulted in high urinary
HCO3- concentration. The patients carry the
previously characterized mutation band 3PRIBRAM that
encodes a C-terminally truncated band 3 containing only the cytoplasmic
domain and the first three putative transmembrane segments.
Conclusions. This finding shows an association of a
band 3 defect with abnormal urinary acidification perhaps secondary to
Cl-/HCO3 exchange in the basolateral membrane of
&agr;-intercalated cells of cortical collecting ducts.
Keywords: AE1 gene mutation;
distal renal tubular acidosis; hereditary spherocytosis; urine
acidification
ORIGINAL ARTICLES
Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene
Department of Nephrology, 1st Medical Department, 1st Medical Faculty, Charles University, U nemocnice 2, Prague 2, CZ 128 08, Czech Republic; Institute of Hematology and Blood Transfusion; Praha, Czech Republic; Corresponding author
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