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[成骨不全症]

[Osteogenesis imperfecta].

作者信息

Forin Véronique

机构信息

Unité pédiatrique de médecine physique et de réadaptation, Hôpital d'enfants Armand Trousseau, Paris.

出版信息

Presse Med. 2007 Dec;36(12 Pt 2):1787-93. doi: 10.1016/j.lpm.2007.01.043. Epub 2007 Jun 8.

Abstract

Osteogenesis imperfecta is a genetic disorder that causes increased bone fragility and low bone mass. Osteogenesis imperfecta is a rare disease: its estimated prevalence is between 1/10000 and 1/20000 persons. The severity of skeletal and extraskeletal manifestations varies widely. Most patients have a mutation in one of the 2 genes that encode the alpha chains of collagen type I. Treatment with bisphosphonates has produced clear improvements, especially for growing children. The appropriate regimen for bisphosphonate treatment remains to be determined: the goal is to find the lowest effective dose to minimize side effects. Treatment of osteogenesis imperfecta must be multidisciplinary, including physicians, surgeons, and physical therapists.

摘要

成骨不全症是一种遗传性疾病,会导致骨脆性增加和骨量降低。成骨不全症是一种罕见疾病:其估计患病率在万分之一至两万分之一之间。骨骼和骨骼外表现的严重程度差异很大。大多数患者在编码I型胶原蛋白α链的两个基因之一中存在突变。双膦酸盐治疗已产生明显改善,尤其是对正在生长的儿童。双膦酸盐治疗的合适方案仍有待确定:目标是找到最低有效剂量以尽量减少副作用。成骨不全症的治疗必须是多学科的,包括内科医生、外科医生和物理治疗师。

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