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A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies

机译:初步诊断和治疗原发性免疫缺陷的进展

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摘要

Primary immunodeficiencies (PIDs)* belong to the group of rare diseases which need more awareness by the relevant medical disciplines. Below a review on recent progresses in diagnosis and treatment of PIDs is given. Reducing the regrettable delay in diagnosis of PIDs (worldwide) is possible only when awareness is increased by doctors who may encounter patients with PID. This review shall serve this purpose. Progresses in understanding what the link might be between one genetic defect presenting in various phenotypes or how various gene defects may manifest by very similar PID phenotypes helps building awareness. Knowledge of PID favours early diagnosis, a cornerstone of optimal, sometimes life-long care at justifiable costs. The complexity of PIDs calls for clinical laboratory and clinical diagnostic performed by experts only. Exciting laboratory diagnostic progresses in early diagnosis of the most severe forms of PID are reviewed below. Progresses in curative therapies for PIDs, such as hematopoietic stem cell transplantation and gene therapies, are mentioned in short. About 80% of PID patients suffer from an antibody deficiency syndrome and can profit from non-curative replacement therapies with human immunoglobulin G concentrates. Modes of application, safety and hints for dosing of replacement therapies to reduce frequencies of severe infections are mentioned below. Thanks to the increasing quality of care, patients survive adolescence. A glance is given on the problems of transition to the adult medicine setting.
机译:原发性免疫缺陷(PID)*属于罕见疾病,需要相关医学学科的更多关注。下面概述了PID诊断和治疗的最新进展。只有当可能遇到PID患者的医生提高认识后,才有可能减少PID诊断的令人遗憾的延迟(世界范围)。此审查应达到此目的。理解以各种表型呈现的一种遗传缺陷之间的联系可能是什么,或者通过非常相似的PID表型如何表现出各种基因缺陷的进展有助于提高人们的认识。对PID的了解有助于早期诊断,这是合理且合理的费用,可以提供最佳,有时甚至终身的护理。 PID的复杂性要求仅由专家执行临床实验室和临床诊断。下文对最严重形式的PID的早期诊断中令人兴奋的实验室诊断进展进行了概述。简而言之,提到了PIDs的治疗方法的进展,例如造血干细胞移植和基因治疗。大约80%的PID患者患有抗体缺乏综合症,并且可以从使用人类免疫球蛋白G浓缩物的非治愈性替代疗法中受益。下面提到了应用模式,安全性和剂量替代疗法以减少严重感染的频率的提示。由于护理质量的提高,患者可以青春期生存。过渡到成人医学环境的问题一览无余。

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  • 作者

    Späth Peter Julius;

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  • 年度 2014
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  • 原文格式 PDF
  • 正文语种 eng
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