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[莫氏综合征的中度形式:身材矮小的未知病因(三例报告)]

[Moderated form of Morquio syndrome: an unknown cause of short stature (three case reports)].

作者信息

Oulahiane A, Elhaddad N, Ouleghzal H, Gaouzi A

机构信息

Service d'endocrinologie, diabétologie et nutrition, CHU Ibn Sina, Rabat, Maroc.

出版信息

Arch Pediatr. 2011 Sep;18(9):979-82. doi: 10.1016/j.arcped.2011.06.021. Epub 2011 Aug 4.

Abstract

Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder.

摘要

黏多糖贮积症Ⅳ型是一种罕见的遗传性疾病,其特征是组织中硫酸角质素蓄积。根据缺陷酶的不同,我们将其分为两种类型:预后较差的A型和B型。其治疗主要是对症治疗。酶替代疗法和基因疗法仍在评估中。我们报告了3例中度A型黏多糖贮积症Ⅳ型患者的病例。本文报告了黏多糖贮积症Ⅳ型诊断和治疗的最新情况,强调了通常由身材矮小表现出的轻度形式,这可能提示该疾病。

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