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[初级保健中是否有罕见病的一席之地?进行性骨化性纤维发育不良的案例]

[Is there a place in primary care for rare diseases? The case of fibrodysplasia ossificans progressiva].

作者信息

Morales-Piga Antonio, García Ribes Miguel, Arribas Álvaro Pilar, Casado Álvaro Carlos, Posada de La Paz Manuel, Bachiller-Corral Javier

机构信息

Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III, Madrid, Spain.

出版信息

Aten Primaria. 2013 Jun-Jul;45(6):324-8. doi: 10.1016/j.aprim.2012.11.014. Epub 2013 Jan 28.

Abstract

Fibrodysplasia ossificans progressiva is one of the most devastating constitutional diseases of the bone, and may be a valid example to establish the role of Primary Care in the care of rare diseases. Although rare diseases usually present with marked anomalies, they can mimic signs and symptoms of common disorders, with the risk of going unnoticed. For this reason, all health professionals should proceed with a reasonable suspicion when confronted with a patient with an apparently common disease with atypical symptoms and a non-conventional progress. The care given by the Primary Care team along with other health care services are fundamental in the integrated and individualised follow-up. The quality of care in rare diseases must not be inferior to that provided to the other chronic diseases, since, besides being a requirement of justice and fairness, these patients are, in essence, the "paradigm of chronicity".

摘要

进行性骨化性纤维发育不良是最具破坏性的骨骼先天性疾病之一,可能是确立初级保健在罕见病护理中作用的一个恰当例子。尽管罕见病通常表现出明显的异常,但它们可能会模仿常见疾病的体征和症状,存在不被注意的风险。因此,当面对患有看似常见疾病但症状不典型且病程非常规的患者时,所有医护人员都应进行合理怀疑。初级保健团队与其他医疗服务部门提供的护理在综合和个性化随访中至关重要。罕见病的护理质量绝不能低于为其他慢性病提供的护理质量,因为除了是正义和公平的要求外,这些患者本质上是“慢性病的典范”。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/edcc/6985523/ddb29e662ab7/gr1.jpg

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