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短肢型遗传性骨代谢性疾病的诊治进展

Progress in the diagnosis and treatment of short- limb inherited short stature patients with skeletal dysplasia
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摘要 软骨发育不全、软骨发育低下及假性软骨发育不全均为导致患儿短肢型身材矮小的遗传性骨骼系统疾病,三者的临床特征接近,临床上易混淆。近年来三种疾病的基因研究取得了很大的进展,为疾病的诊断及鉴别诊断提供了依据。同时,重组人生长激素治疗三种疾病的研究也取得了初步的进展。该文将对这三种疾病的临床特征以及鉴别、基因分析、生长激素治疗情况进行综述。 Achondroplasia,hypochondroplasia and pseudoachondroplasia are all inherited skeletal system diseases resulting in short stature with short limbs. The clinical characteristics of the three diseases are similar and easily confused. In recent years, the genetic researches of the three diseases have made great progress, providing the basis for the diagnosis and differential diagnosis of the disease. In addition ,the application of recombinant hu- man growth hormone treatment in the three diseases also has taken the preliminary results. This article reviews the clinical features,identification, genetic analysis and growth hormone therapy of three disases.
出处 《国际儿科学杂志》 2013年第4期395-398,共4页 International Journal of Pediatrics
关键词 软骨发育不全 软骨发育低下 假性软骨发育不全 鉴别诊断 基因 生长激素 Achondroplasia Hypochondroplasia Pseudoachondroplasia Differential Diagnosis Gene Recombinant human growth hormone
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