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[Hereditary stomatocytosis of the hydrocytosis type: a report of one family and red cell membrane studies]. 1990

T Kida, and H Nakamura, and T Kuroki, and Y Mizoguchi, and K Kobayashi, and T Yamane, and T Im, and N Tatsumi, and K Ata, and H Wada
Third Department of Internal Medicine, Osaka City University Medical School.

A case of hereditary stomatocytosis with hemolytic anemia, increased autohemolysis, increased osmotic fragility, and shortened erythrocyte survival is reported. The erythrocytes were abnormally permeable to sodium and potassium; the sodium concentration of the erythrocytes was high, and the potassium level was low. This case was different from the first reported Japanese case of hereditary stomatocytosis of the hydrocytosis type in the Na(+)-K+ ATPase and Mg+ ATPase activity. In the first reported Japanese case, these activities were within normal limits, but in this case, they were increased. The findings indicate that membrane transport in hereditary stomatocytosis of the hydrocytosis type may vary from case to case.

UI MeSH Term Description Entries
D009996 Osmotic Fragility RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst. Saline Fragility,Fragility, Osmotic,Fragility, Saline
D011188 Potassium An element in the alkali group of metals with an atomic symbol K, atomic number 19, and atomic weight 39.10. It is the chief cation in the intracellular fluid of muscle and other cells. Potassium ion is a strong electrolyte that plays a significant role in the regulation of fluid volume and maintenance of the WATER-ELECTROLYTE BALANCE.
D004905 Erythrocyte Aging The senescence of RED BLOOD CELLS. Lacking the organelles that make protein synthesis possible, the mature erythrocyte is incapable of self-repair, reproduction, and carrying out certain functions performed by other cells. This limits the average life span of an erythrocyte to 120 days. Erythrocyte Survival,Aging, Erythrocyte,Survival, Erythrocyte
D004913 Erythrocytes, Abnormal Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function. Abnormal Erythrocytes,Abnormal Erythrocyte,Erythrocyte, Abnormal
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000254 Sodium-Potassium-Exchanging ATPase An enzyme that catalyzes the active transport system of sodium and potassium ions across the cell wall. Sodium and potassium ions are closely coupled with membrane ATPase which undergoes phosphorylation and dephosphorylation, thereby providing energy for transport of these ions against concentration gradients. ATPase, Sodium, Potassium,Adenosinetriphosphatase, Sodium, Potassium,Na(+)-K(+)-Exchanging ATPase,Na(+)-K(+)-Transporting ATPase,Potassium Pump,Sodium Pump,Sodium, Potassium ATPase,Sodium, Potassium Adenosinetriphosphatase,Sodium-Potassium Pump,Adenosine Triphosphatase, Sodium, Potassium,Na(+) K(+)-Transporting ATPase,Sodium, Potassium Adenosine Triphosphatase,ATPase Sodium, Potassium,ATPase, Sodium-Potassium-Exchanging,Adenosinetriphosphatase Sodium, Potassium,Pump, Potassium,Pump, Sodium,Pump, Sodium-Potassium,Sodium Potassium Exchanging ATPase,Sodium Potassium Pump
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D000745 Anemia, Hemolytic, Congenital Hemolytic anemia due to various intrinsic defects of the erythrocyte. Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias
D012964 Sodium A member of the alkali group of metals. It has the atomic symbol Na, atomic number 11, and atomic weight 23. Sodium Ion Level,Sodium-23,Ion Level, Sodium,Level, Sodium Ion,Sodium 23

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