Zhang Hui-Qin, Tao Dong-Ying, Zhang Jing-Jing, Niu Huan-Hong, Luo Jian-Feng, Cheng Sheng-Quan
Department of Pediatrics, First Affiliated Hospital of Air Force Military Medical University, Xi'an 710032, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Apr 15;24(4):405-410. doi: 10.7499/j.issn.1008-8830.2111039.
To study the clinical features and fibroblast growth factor receptor 3 () gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.
A retrospective analysis was performed on the clinical data and gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.
Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had mutations, among whom 13 had c.1138G>A hotspot mutations of the gene, 2 had c.1138G>C mutations of the gene, and 2 had unreported mutations, with c.1252C>T mutations of the gene in one child and c.445+2_445+5delTAGG mutations of the gene in the other child.
This study identifies the unreported mutation sites of the gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.
通过对17例软骨发育不全（ACH）患儿的分析，研究其临床特征和成纤维细胞生长因子受体3（ ）基因突变情况。
对2009年1月至2021年10月确诊的17例ACH患儿的临床资料及 基因检测结果进行回顾性分析。
17例ACH患儿中，常见临床表现包括身材比例失调性矮小（100%，17/17）、巨头症（100%，17/17）、三叉手（82%，14/17）和膝内翻（88%，15/17）。常见影像学表现为长骨近端缩短（100%，17/17）和腰椎间隙变窄（88%，15/17）。主要并发症包括骨骼发育异常（100%，17/17）、中耳功能障碍（82%，14/17）、运动/语言发育迟缓（88%，15/17）、慢性疼痛（59%，10/17）、睡眠呼吸暂停（53%，9/17）、肥胖（41%，7/17）、枕大孔狭窄（35%，6/17）和脑积水（24%，4/17）。17例患儿（100%）均有 基因突变，其中13例有 基因c.1138G>A热点突变，2例有 基因c.1138G>C突变，2例有未报道的突变，1例患儿有 基因c.1252C>T突变，另1例患儿有 基因c.445+2_445+5delTAGG突变。
本研究确定了 基因未报道的突变位点，扩展了ACH的基因突变谱。ACH是一种进行性疾病，需要通过多学科协作进行终身管理。
