Glucose-6-Phosphate Dehydrogenase Deficiency (G6Pd Deficiency)

The glucose-6-phosphate dehydrogenase deficiency (G6PD) deficiency is an X-linked inherited enzymatic defect, which often occurs in dark-skinned and after an acute illness or intake of oxidatively effective drugs (eg. B. salicylates or sulfonamides) leads to hemolysis. The diagnosis is made by determining the glucose-6-phosphate dehydrogenase, but these tests often fall false-negative during the acute hemolysis. Treatment is supportive.

The glucose-6-phosphate dehydrogenase deficiency causes the only clinically significant defect of the hexose monophosphate shunt. Over 100 different mutants of this enzyme could be identified. Clinically, the drug-sensitive type in appearance is most common. This X-linked disorder is fully developed in males and homozygous females. In heterozygous women can be found on the variable adaptation. The defect occurs in about 10% of all male and <10% of female dark-skinned in the US and a lower frequency also in people with ancestors from the Mediterranean to (z. B. Italians, Greeks, Arabs, Sephardic Jews).

The glucose-6-phosphate dehydrogenase deficiency (G6PD) deficiency is an X-linked inherited enzymatic defect, which often occurs in dark-skinned and after an acute illness or intake of oxidatively effective drugs (eg. B. salicylates or sulfonamides) leads to hemolysis. The diagnosis is made by determining the glucose-6-phosphate dehydrogenase, but these tests often fall false-negative during the acute hemolysis. Treatment is supportive. The glucose-6-phosphate dehydrogenase deficiency causes the only clinically significant defect of the hexose monophosphate shunt. Over 100 different mutants of this enzyme could be identified. Clinically, the drug-sensitive type in appearance is most common. This X-linked disorder is fully developed in males and homozygous females. In heterozygous women can be found on the variable adaptation. The defect occurs in about 10% of all male and <10% of female dark-skinned in the US and a lower frequency also in people with ancestors from the Mediterranean to (z. B. Italians, Greeks, Arabs, Sephardic Jews). Due to the pathophysiology of glucose-6-phosphate dehydrogenase deficiency is the cells less energy for maintaining the integrity of the red cell membrane available; characterized the erythrocyte life is shortened. In dark-skinned and most light-skinned with glucose-6-phosphate dehydrogenase deficiency, hemolysis only affects older erythrocytes. Most hemolysis occurs after fever, acute viral or bacterial infections or diabetic acidosis. More rarely occurs hemolysis after ingestion of certain drugs or other substances that lead to peroxide formation and cause oxidation of hemoglobin and red blood cell membranes. These include primaquine, salicylates, sulfonamides, nitrofurans, phenacetin, naphthalene, some vitamin K derivatives, dapsone, Phenazopyridine, nalidixic acid, methylene blue, and in some light-skinned fava beans. Whether the continued use of the triggering agents to a compensated hemolysis or to a fatal hemolysis leads depends on the degree of glucose-6-phosphate dehydrogenase deficiency and the oxidative potential of the substances. The chronic hereditary hemolysis (without drug intake) occurs with some light-skinned. Since dark-skinned only older cells are selectively destroyed, the hemolysis is usually self-limiting and concerns <25% of red cell mass. Those with pale skin, this lack is heavier and a strong hemolysis can lead to hemoglobinuria and acute renal injury. Diagnostic determination of the activity of glucose-6-phosphate dehydrogenase A glucose-6-phosphate dehydrogenase deficiency should in patients with acute hemolysis, particularly in male dark-skinned (Editor's note: and those with pale skin with Mediterranean origin) pulled consider become. By determining the activity of glucose-6-phosphate dehydrogenase, the diagnosis is confirmed. During hemolysis to anemia, jaundice and Reticulocytosis develop. In the early stage of the hemolytic episode Heinz inclusion bodies (remains of denatured hemoglobin) can but disappear in patients with intact spleens again be visible, because they are removed from it. A specific diagnostic sign is the presence of erythrocytes in the peripheral blood, which have on their membranes, one or more 1 micron wide "bite" sites. This may be a result of the removal of Heinz inclusion bodies by the spleen. A number of different screening tests available. However, this may give false negative results during and immediately after hemolytic episodes, because the older, enzyme poorer erythrocytes have been replaced by reticulocytes with high glucose-6-phosphate dehydrogenase activity. The greatest diagnostic reliability provide specific enzyme assays. Treatment avoidance of triggers and supportive care during the acute hemolysis is the treatment supportive. Transfusions are rarely needed. Patients are instructed to avoid drugs or substances that can cause hemolysis.

Health Life Media Team

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