海洋性贫血合并G6PD缺乏症1例报告并文献复习  

Thalassemias Complicated by G6PD Deficiency Caused MOSF: One Case Report and the Literature Review

作　　者：鞠文东[1] 周巧云[1] 伍建辉[1] 施为建[1] 

机构地区：[1]广东省中山市博爱医院血液科,528403

出　　处：《中国误诊学杂志》2005年第8期1419-1422,共4页Chinese Journal of Misdiagnostics

摘　　要：目的:报告l例海洋性贫血合并G6PD缺乏症致多脏器功能衰竭的少见病例的诊治过程。方法:病例分析及文献复习。结果:因烫伤感染入院的海洋性贫血女患者,先后发生严重黄疸、重度贫血、DIC、肾衰、酸中毒、严重低钾等多器官功能衰竭,虽发病时G6PD/6PGD正常,似不支持G6PD缺乏症诊断,但根据病史、相关治疗效果以及出院后45d复查G6PD/6PGD低于正常,最后确诊G6PD缺乏症。经成份输血、低分子肝素抗凝、大剂量速尿利尿、纠酸、超浓度补钾等抢救,病情稳定痊愈出院。结论:G6PD溶血虽然是自限性的,但当合并海洋性贫血时,往往病情严重,可致DIC、肾衰甚至多脏器衰竭。严重溶血时G6PD活性测定多数在正常范围,不排除有G6PD缺乏时,输血须配G6PD活性正常的同型血。做好婚检和产检的筛查工作是预防海洋性贫血、G6PD缺陷症及两病并患的根本措施。Objective:One case of MOSF induced by thalassemias combined with G6PD deficiency and the process of diagnosis and treatment were reported.Method:The case was analyzed and the literature was reviewed.Result:A female patient with thalassemias was admitted because of infection by scald.Serious jaundice,heavy anemia,DIC,renal failure,acidosis,hypokalemia occured during hospitalization.Although the G6PD/6PGD level was normal at the begining of disease, which seemed not support the diagnosis of G6PD deficiency,according to the history,the related effect of therapy and reexamining the G6PD/6PGD levels 45 days after discharge, G6PD deficiency was finally diagnosed. By transfusing component blood,injecting low molecular weight heparin to anticoagulation,injecting over dosage fulsix to diuresis,correcting acidosis,over consistency supplement of kalium, the patient'condition was stable.Conclusion:G6PD hemolysisis a self-limited disease,but it can cause serious disease and even lead to DIC,renal failure,MOSF when it is complicated by thalassemias.The activity of G6PD was mostly normal when serious hemolysis occured,so transfusion of the same type blood with the normal activity of G6PD should be done G6PD deficiency could not be excluded. Concrete screening of antemarital physical examination and prenatal examination is essential measure to prevent thalassemias and G6PD difficiency or both.

关 键 词：G6PD缺乏症 海洋性贫血 文献复习 G6PD/6PGD 多脏器功能衰竭 G6PD缺乏症 多器官功能衰竭 G6PD缺陷症 大剂量速尿 多脏器衰竭 诊治过程 少见病例 烫伤感染 重度贫血 治疗效果 成份输血 痊愈出院 正常范围 活性测定 严重溶血 

分 类 号：R596[医药卫生—内科学] R457.1[医药卫生—临床医学]