Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients

KI Reports
Jean-Philippe BertocchioIsabelle Mouro-Chanteloup

Abstract

Anion exchanger 1 (AE1) (SLC4A1 gene product) is a membrane protein expressed in both kidney and red blood cells (RBCs): it exchanges extracellular bicarbonate (HCO3-) for intracellular chloride (Cl-) and participates in acid-base homeostasis. AE1 mutations in kidney α-intercalated cells can lead to distal renal tubular acidosis (dRTA). In RBC, AE1 (known as band 3) is also implicated in membrane stability: deletions can cause South Asian ovalocytosis (SAO). We retrospectively collected clinical and biological data from patients harboring dRTA due to a SLC4A1 mutation and analyzed HCO3- and Cl- transports (by stopped-flow spectrophotometry) and expression (by flow cytometry, fluorescence activated cell sorting, and Coomassie blue staining) in RBCs, as well as RBC membrane stability (ektacytometry). Fifteen patients were included. All experience nephrolithiasis and/or nephrocalcinosis, 2 had SAO and dRTA (dRTA SAO+), 13 dominant dRTA (dRTA SAO-). The latter did not exert specific RBC membrane anomalies. Both HCO3- and Cl- transports were lower in patients with dRTA SAO+ than in those with dRTA SAO- or controls. Using 3 different extracellular probes, we report a decreased expression (by 52%, P < 0.05) in dRTA SAO+ patients by fl...Continue Reading

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Citations

Mar 18, 2021·The Journal of International Medical Research·Lihong ZhangHui Tang

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Methods Mentioned

BETA
electrophoresis
flow cytometry

Software Mentioned

Biokine
FlowJo
ImageJ

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