Heritable disorders of connective tissue
Heritable disorders of connective tissue
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DOI：
10.1053/berh.1999.0069
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发表时间：
2000-06-01
影响因子：
5.2
通讯作者：
Grahame, R
中科院分区：
文献类型：
--
作者：
Grahame, R
本章旨在提请读者注意结缔组织在临床实践中的遗传性疾病的重要性。它描述了Marfan综合征和Ehlers-Danlos综合征、成骨不全症和良性关节过度活动综合征的主要特征，它们的临床和预后的异同，以及它们的特点。根据分子遗传学的最新进展，对最近修订的国际分类进行了详细描述。只要可能，患者的症状都是根据遗传异常结缔组织基质蛋白的生物力学改变来解释的。最后，本章提请注意，慢性疼痛的负担往往是由这些条件的患者所承担的，这是许多风湿病学家似乎不知道的一个特点，并提出了一个合理的和全面的方法来治疗和管理，是基于目前最好的证据。
This chapter seeks to draw readers' attention to the importance of the heritable disorders of connective tissue in clinical practice. It describes the principal features of the Marfan and Ehlers-Danlos syndromes, osteogenesis imperfecta and benign joint hypermobility syndrome, their clinical and prognostic similarities and differences, and their distinguishing features. Recently revised international classifications drawing on advances in molecular genetics are described in detail. Wherever possible, patients' symptoms are explained on the basis of the altered biomechanics of genetically aberrant connective tissue matrix proteins. Finally, the chapter draws attention to the often unrecognized burden of chronic pain borne by patients with these conditions, a feature of which many rheumatologists seem unaware, and sets out a rational and holistic approach to treatment and management that is based on the best currently available evidence.