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[一家儿科医院的先天性免疫缺陷登记处]

[Registry of Inborn errors of immunity in a pediatric hospital].

作者信息

García-Domínguez Miguel, Valero-Gálvez Guadalupe Carmen, Velázquez-Ríos Carlos Alberto, Blancas-Galicia Lizbeth

机构信息

Secretaría de Salud del Estado de Sinaloa, Hospital Pediátrico de Sinaloa, Departamento de Inmunología Clínica, Sinaloa, México.

出版信息

Rev Alerg Mex. 2020 Jul-Sep;67(3):268-278. doi: 10.29262/ram.v67i3.738.

Abstract

In 2017, the Pediatric Hospital of Sinaloa (PHS) began its affiliation to the registry of patients with primary immunodeficiency or inborn errors of immunity (IEI) on the platform of the Latin American Society for Immunodeficiencies (LASID). During this period, twelve cases with IEI have been diagnosed and treated at the hospital. The age category at the time of diagnosis varied from two days to sixteen years old, and the range of the onset of the symptoms varied from nineteen days to four years, with a predominance of males (67%). The most frequent IEI was predominantly antibody deficiency (33.3%), followed by defects in the number or function of phagocytes (16.6%), autoinflammatory disorders (16.6%), immunodeficiencies that affect cellular and humoral immunity (16.6%), combined immunodeficiencies associated with syndromic findings (8.3%), and defects in intrinsic and inborn immunity (8.3%). 84% of patients received intravenous immunoglobulin and, in one case of a patient with Wiskott-Aldrich syndrome, a pathogenic variant in the WAS gene was identified; a patient received hematopoietic stem cell transplantation, 33.3% of patients died, of which 25% died of sepsis and 8.3% died of massive hemorrhage. The registry of IEI provides information about epidemiological data, incidences, prevalence, diagnoses, and treatments, which will favor the development of new health policies for obtaining resources and tools to improve the care models.

摘要

2017年,锡那罗亚儿科医院(PHS)开始在拉丁美洲免疫缺陷协会(LASID)的平台上加入原发性免疫缺陷或先天性免疫缺陷(IEI)患者登记系统。在此期间,该医院已诊断并治疗了12例IEI病例。诊断时的年龄范围从两天到16岁不等,症状出现的时间范围从19天到4年不等,男性占主导(67%)。最常见的IEI主要是抗体缺陷(33.3%),其次是吞噬细胞数量或功能缺陷(16.6%)、自身炎症性疾病(16.6%)、影响细胞和体液免疫的免疫缺陷(16.6%)、与综合征表现相关的联合免疫缺陷(8.3%)以及固有和先天性免疫缺陷(8.3%)。84%的患者接受了静脉注射免疫球蛋白,在1例维斯科特-奥尔德里奇综合征患者中,鉴定出WAS基因的一个致病变异;1例患者接受了造血干细胞移植,33.3%的患者死亡,其中25%死于败血症,8.3%死于大出血。IEI登记系统提供了有关流行病学数据、发病率、患病率、诊断和治疗的信息,这将有助于制定新的卫生政策,以获取资源和工具来改善护理模式。

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