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墨西哥阿瓜斯卡连特斯市的原发性免疫缺陷疾病:一项教育项目的成果

Primary Immunodeficiency Diseases in Aguascalientes, Mexico: Results from an Educational Program.

作者信息

Alvarez-Cardona Aristoteles, Espinosa-Padilla Sara Elva, Reyes Saul Oswaldo Lugo, Ventura-Juarez Javier, Lopez-Valdez Jaime Asael, Martínez-Medina Lucila, Santillan-Artolozaga Alberto, Cajero-Avelar Adriana, De Luna-Sosa Alma R, Torres-Bernal Luis F, Espinosa-Rosales Francisco J

机构信息

Universidad Autonoma de Aguascalientes, Aguascalientes, Mexico.

Immunodeficiencies Research Unit, a Jeffrey Modell Diagnostic Center at the National Institute of Pediatrics, Mexico City, Mexico.

出版信息

J Clin Immunol. 2016 Apr;36(3):173-8. doi: 10.1007/s10875-016-0242-0. Epub 2016 Feb 22.

Abstract

PURPOSE

Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders characterized mainly by recurrent infections. Late diagnosis remains as one of the main issues to solve. We aimed to increase PID diagnosis in Aguascalientes, a 1.3 million inhabitants state in the center of Mexico, and to describe the clinical features of such patients.

METHODS

We developed an educational program for health personnel and general public; patients with possible PID were referred to a State University clinical center from December 2011 to December 2012. The patients were evaluated at the clinic and their definitive diagnosis pursued through laboratory, molecular and genetic assays. We describe the findings of those patients and analyze the impact of the program in terms of number of referrals.

RESULTS

After 41 talks and 12 media appearances 151 patients were referred for evaluation. Fifteen (9.9%) were diagnosed with PID: five (33%) had antibody deficiencies, seven (47%) Well-defined syndromes, two (13%) Severe combined Immunodeficiency (SCID) and one case (7%) of an innate immune deficiency. All of the 15 PID patients had been referred by physicians, as opposed to the public. We estimated a "number needed to teach" of 75 physicians to get one PID patient referral.

CONCLUSION

Educational programs are a fundamental part of the global efforts to increase PID diagnosis and care. To be successful, such programs should include public relations, reach for first-contact physicians, and aim to develop an efficient referral network with molecular diagnostic capability. Enhancing medical knowledge on PID is a successful strategy to improve early diagnosis and treatment.

摘要

目的

原发性免疫缺陷病(PID)是一组异质性疾病,主要特征为反复感染。诊断延迟仍是有待解决的主要问题之一。我们旨在提高墨西哥中部拥有130万人口的阿瓜斯卡连特斯州的PID诊断率,并描述此类患者的临床特征。

方法

我们为卫生人员和普通公众制定了一项教育计划;2011年12月至2012年12月期间,将可能患有PID的患者转诊至一所州立大学临床中心。在诊所对患者进行评估,并通过实验室、分子和基因检测进行明确诊断。我们描述了这些患者的检查结果,并从转诊数量方面分析了该计划的影响。

结果

在进行了41次讲座和12次媒体露面后,有151名患者被转诊进行评估。其中15名(9.9%)被诊断为PID:5名(33%)存在抗体缺陷,7名(47%)患有明确的综合征,2名(13%)为重症联合免疫缺陷(SCID),1例(7%)为先天性免疫缺陷。15名PID患者均由医生转诊,而非公众。我们估计,每让75名医生接受培训,就会有1名PID患者被转诊。

结论

教育计划是全球提高PID诊断和治疗水平努力的重要组成部分。要取得成功,此类计划应包括公共关系、联系首诊医生,并旨在建立一个具备分子诊断能力的高效转诊网络。增强对PID的医学知识了解是改善早期诊断和治疗的成功策略。

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