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新生儿和儿童遗传性血小板疾病的诊断与治疗考量

Diagnostic and therapeutic considerations on inherited platelet disorders in neonates and children.

作者信息

Schlegel N, Bardet V, Kenet G, Muntean W, Zieger B, Nowak-Göttl U

机构信息

Service d'Hématologie Biologique, Hôpital Robert Debré, Paris, France.

出版信息

Klin Padiatr. 2010 May;222(3):209-14. doi: 10.1055/s-0030-1249065. Epub 2010 Jun 9.

Abstract

Inherited disorders of platelets constitute a group of rare diseases that give rise to bleeding syndromes of variety severity, with more severe cases being first diagnosed during infancy and childhood. To appropriate diagnose a platelet function disorder during early childhood the knowledge of the physiological characteristics of platelets in the paediatric population is mandatory. Apart from thrombocytopenia which is quite common in neonates and children the present overview is aimed to focus on inherited platelet function disorders. Furthermore, knowledge on platelet maturation and reference values according to age are given, and a diagnostic strategy specifically adapted to a pediatric population is presented on the bases of plasmatic and molecular laboratory methodologies. Finally, therapeutic approaches are briefly summarized (antifibrinolytic agents, Desmopressin, HLA-matched platelets, recombinant factor VIIa).

摘要

遗传性血小板疾病是一组罕见疾病,可引发各种严重程度的出血综合征,更严重的病例在婴儿期和儿童期首次被诊断出来。为了在儿童早期准确诊断血小板功能障碍,必须了解儿科人群中血小板的生理特征。除了在新生儿和儿童中相当常见的血小板减少症外,本综述旨在聚焦遗传性血小板功能障碍。此外,还给出了血小板成熟情况及按年龄划分的参考值,并基于血浆和分子实验室方法,提出了专门适用于儿科人群的诊断策略。最后,简要总结了治疗方法(抗纤溶药物、去氨加压素、人类白细胞抗原匹配的血小板、重组凝血因子VIIa)。

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