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[罕见病因的骨关节炎]

[Osteoarthritis of rare etiology].

作者信息

Laoussadi S, Menkès C J

机构信息

Service de Rhumatologie A, Hôpital Cochin, Paris.

出版信息

Rev Rhum Ed Fr. 1994 Nov 15;61(9 Pt 2):116S-123S.

PMID:7858607
Abstract

Although osteoarthritis is characterized by a uniform pattern of clinical and radiological manifestations, it is a syndrome that can be produced by a variety of causative factors. Rare causes of osteoarthritis can be categorized as follows: 1) systemic metabolic disorders due to known biochemical and/or genetic abnormalities, such as hemochromatosis, ochronosis, Wilson's disease, Ehlers-Danlos syndrome (and probably the "idiopathic" joint hypermobility syndrome), sickle cell anemia, and thalassemia; 2) endocrine disorders, such as acromegaly, whose joint manifestations are now well-known, and hypothyroidism; 3) Paget's disease of bone, osteopetrosis (which induces changes in bone elasticity), and other systemic bone diseases; 4) dysplasias, which form a vast group including familial polyepiphyseal dysplasia, spondyloepiphyseal dysplasia congenita (especially its milder forms), Stickler's syndrome, osteo-onychodysplasia, Kniest's dysplasia, trichorhinopharyngeal syndrome, and a group of diseases that affect the epiphyses; 5) endemic forms of osteoarthritis, e.g., Mselini disease, Kashin-Beck disease, and Malnad disease, which are unknown in western Europe but have been reported to affect thousands of individuals in endemic areas. All these disorders are usually responsible for premature osteoarthritis, whose presentation sometimes bears the imprint of the causative abnormality but can be identical to that of common osteoarthritis. The effects of toxic substances (Kashin-Beck disease) or genetically-determined collagen II abnormalities (epiphyseal dysplasias) may explain the occurrence of these rare forms of premature osteoarthritis.

摘要

尽管骨关节炎具有统一的临床和放射学表现模式,但它是一种可由多种致病因素引起的综合征。骨关节炎的罕见病因可分类如下:1)由于已知的生化和/或基因异常导致的全身代谢紊乱,如血色素沉着症、褐黄病、威尔逊氏病、埃勒斯-当洛综合征(可能还有“特发性”关节活动过度综合征)、镰状细胞贫血和地中海贫血;2)内分泌紊乱,如肢端肥大症(其关节表现现已为人熟知)和甲状腺功能减退;3)佩吉特骨病、骨硬化症(可引起骨弹性改变)及其他全身性骨病;4)发育异常,这是一个庞大的类别,包括家族性多发性骨骺发育异常、先天性脊柱骨骺发育异常(尤其是其较轻的形式)、施蒂克勒综合征、骨-甲发育不良、克尼斯特发育异常、鼻-咽-毛发综合征以及一组影响骨骺的疾病;5)地方性骨关节炎,如姆塞利尼病、大骨节病和马拉纳德病,这些在西欧并不常见,但据报道在流行地区影响着数千人。所有这些疾病通常会导致早发性骨关节炎,其表现有时带有致病异常的印记,但也可能与常见骨关节炎相同。有毒物质(大骨节病)或基因决定的Ⅱ型胶原异常(骨骺发育异常)的影响可能解释了这些罕见的早发性骨关节炎形式的发生。

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Rev Rhum Ed Fr. 1994 Nov 15;61(9 Pt 2):116S-123S.
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Hereditary disorders mimicking and/or causing premature osteoarthritis.模仿和/或导致早发性骨关节炎的遗传性疾病。
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[Genetic basis for skeletal disease. Genetic factors of osteoarthritis with particular reference to skeletal dysplasia].[骨骼疾病的遗传基础。骨关节炎的遗传因素,特别提及骨骼发育异常]
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