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[新生儿期镰状细胞病]

[Sickle cell disease in the neonatal period].

作者信息

de Montalembert M

机构信息

Service de Pédiatrie Générale, Hôpital Necker-Enfants Malades, Paris.

出版信息

J Gynecol Obstet Biol Reprod (Paris). 2004 Feb;33(1 Suppl):S12-4. doi: 10.1016/s0368-2315(04)96658-6.

Abstract

The prognosis of pregnancy in women with major sickle cell syndromes has improved greatly in recent years. Correction of maternal anemia with programmed transfusion has been a major advance. Rates of preterm birth and intra-uterine growth retardation nevertheless remain high in this population. A newborn affected with sickle cell disease does not develop complications of the disease, because the predominant fetal hemoglobin cannot co-polymerize with sickle hemoglobin. The rate of complications increases as the infant's hemoglobin synthesis switches from fetal to sickle hemoglobin. Neonatal screening of sickle cell disease patients enables early implementation of a comprehensive prevention program (daily antibiotic prophylaxy, immunization, parental education.). A neonatal screening program, targeted with regard to the parents' ethnic background, has been implemented throughout metropolitan France since 1999. In 2002, this program enabled early diagnosis of sickle cell disease in 313 newborns.

摘要

近年来,患有严重镰状细胞综合征的女性的妊娠预后有了很大改善。通过计划性输血纠正母体贫血是一项重大进展。然而,该人群的早产和宫内生长迟缓发生率仍然很高。患有镰状细胞病的新生儿不会出现该疾病的并发症,因为主要的胎儿血红蛋白不能与镰状血红蛋白共聚。随着婴儿的血红蛋白合成从胎儿血红蛋白转变为镰状血红蛋白,并发症的发生率会增加。对镰状细胞病患者进行新生儿筛查能够早期实施全面的预防计划(每日抗生素预防、免疫接种、家长教育)。自1999年以来,法国大都市地区针对父母的种族背景实施了一项新生儿筛查计划。2002年,该计划使313名新生儿得以早期诊断出镰状细胞病。

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