[Congenital stomatocytosis with hemolytic anemia--with abnormal cation permeability and defective membrane proteins].
A case of hereditary stomatocytosis with haemolytic anaemia in a nine year-old girl is presented. This rare syndrome is associated with increased permeability for monovalent cations across the erythrocyte membrane leading to high intracellular sodium (72 mmol/l erythrocytes) and low potassium (32 mmol/l erythrocytes) accompanied by an increased water content. In our patient the passive Na+ and K+ flux were increased to approximately 20 times normal with a compensatory maximal activation of the normal Na, K transport. The cation permeability defect was partly corrected in vitro by a bifunctional imidoester, dimethyl suberimidate. Electrophoresis of solubilizer membrane proteins revealed changes in the protein band pattern with reduction of band 7, as reported previously, and increase in the band 4.1a/4.1b ratio and increased band 4.8.
Rix
M
M
Kolding Sygehus, børneafdelingen og klinisk kemisk afdeling.
Bjerrum
P J
PJ
Wieth
J O
JO
Frandsen
B
B
D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics; D002414:Cations, Monovalent / Q000378:metabolism*; D002463:Cell Membrane Permeability / Q000502:physiology; D002648:Child; D004910:Erythrocyte Membrane / Q000378:metabolism*; D004913:Erythrocytes, Abnormal / Q000378:metabolism / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome
D002414:Cations, Monovalent; D008565:Membrane Proteins