کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2613338 1134862 2008 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Déficit en glucose-6-phosphate déshydrogénase : quand y penser et quelles précautions prendre ?
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی طب اورژانس
پیش نمایش صفحه اول مقاله
Déficit en glucose-6-phosphate déshydrogénase : quand y penser et quelles précautions prendre ?
چکیده انگلیسی
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked genetic disorder in humans, though most deficient people remain non-symptomatic. Several G6PD variants (about 160 different mutations) have been identified with a characteristic geographical repartition. The three most frequent variants are the A- type in black people, the Mediterranean type with more severe clinical features, and the Canton type in Asians. G6PD deficiency may confer a relative protection against malaria infection in deficient people. The majority of G6PD mutations results in red cell enzyme deficiency by decreasing its stability. The more severe mutations mostly affect residues at the dimer interface involved in the enzyme stabilization as well as the structural interactions with reduced nicotinamide adenine dinucleotide phosphate (NADPH). Expression of G6PD deficiency mainly occurs in hemizygous males. In the newborn, G6PD deficiency may be responsible of neonatal jaundice. Throughout their life, deficient people are susceptible to acute hemolysis which can be usually precipitated either by an infection or certain drugs or toxicants. The most severe features result from eating Fava beans. Otherwise, G6PD is associated with an increased susceptibility to infections. Morbidity and mortality rates are more elevated in case of trauma or cardiac surgery. To date, management is supportive and no specific treatment is available.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Réanimation - Volume 17, Issue 4, June 2008, Pages 399-406
نویسندگان
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