摘要
目的探讨软骨发育低下(hypochondroplasia,HCH)患儿的临床特征及成纤维细胞生长因子受体3(fibroblast growth factor receptor 3,FGFR3)基因变异特点。方法回顾性分析2015年1月至2021年10月空军军医大学第一附属医院收治的7例HCH患儿的临床资料、基因检测结果及重组人生长激素(recombinant human growth hormone,rhGH)治疗效果。结果7例HCH患儿初始平均年龄为(6.4±2.7)岁(3.1~9.7岁),平均身高标准差分值为-3.22±1.22(-1.2~-4.9),上部量/下部量比值为1.28±0.13(1.10~1.52)。rhGH平均治疗时间为(4.4±1.2)年(3.1~6.0年),治疗后平均年龄为(10.8±2.1)岁(6.9~12.8岁),平均身高标准差分值为-1.73±1.32(-3.4~0.2),上部量/下部量比值为1.13±0.14(0.98~1.38)。HCH临床表现有不匀称身材矮小(7/7,100%)、肘关节伸展受限(2/7,28.6%)、腰椎前凸(2/7,28.6%)、轻度膝内翻(2/7,28.6%)、面部相对正常的前额凸起(1/7,14.3%)。HCH放射学特征包括长骨缩短伴轻度干骺端扩张(4/7,57.1%)、腰椎椎弓根间距变窄(1/7,14.3%)、短而宽的股骨颈(1/7,14.3%)、方形髋骨及扁平髋臼顶(1/7,14.3%)、坐骨大切迹变小(1/7,14.3%)。7例均存在FGFR3基因致病性变异,4例为FGFR3基因c.1620C>A(p.Asn540Lys)变异;3例为FGFR3基因c.1620C>G(p.Asn540Lys)变异。结论7例HCH均为FGFR3基因p.Asn540Lys的热点变异。HCH临床特征相对轻微,婴幼儿期需要加强认识和甄别。rhGH治疗对HCH患儿有效。
Objective To explore the clinical characteristics of children with hypochondroplasia(HCH)and the gene variation of fibroblast growth factor receptor 3(FGFR3).Method The clinical data,genetictest results and the therapeutic effect of recombinant human growth hormone(rhGH)in 7 children withHCH admitted to the First Affiliated Hospital of Air Force Military Medical University from January 2015 to October 2021 were analyzed retrospectively.Result The initial average age of the 7 children with HCH was(6.4±2.7)years(3.1-9.7 years),the average height standard deviation score was-3.22±1.22(-1.2--4.9),and the upper part/lower part ratio was 1.28±0.13(1.10-1.52).The average treatment time for rhGH was(4.4±1.2)years(3.1-6.0 years),the average age after treatment was(10.8±2.1)years(6.9-12.8 years),and the average height standard deviation score was-1.73±1.32(-3.4-0.2).The upper part/lower part ratio was 1.13±0.14(0.98-1.38).The clinical manifestations of HCH included disproportionate short stature(7/7,100%),limitation of elbow extension(2/7,28.6%),lumbar lordosis(2/7,28.6%),mildknee varus(2/7,28.6%),forehead bulge with relatively normal facies(1/7,14.3%).Radiological featuresof HCH included shortening of long bones with mild metaphyseal expansion(4/7,57.1%),narrowing of theinferior lumbar interpedicular distances(1/7,14.3%),and short and broad femoral neck(1/7,14.3%),squarehip bone and flat acetabular top(1/7,14.3%),and the ischial notch becomes smaller(1/7,14.3%).There werepathogenic variants of FGFR3 gene in 7 cases,4 cases were variants of FGFR3 gene c.1620C>A(p.Asn540Lys);3 cases were variants of FGFR3 gene c.1620C>G(p.Asn540Lys).Conclusion Seven cases were hotspotvariations of FGFR3 gene p.Asn540Lys.The clinical characteristics of HCH are relatively mild,andit is necessary to strengthen the understanding and screening of infants and young children.Thetreatment of rhGH for children with HCH was effective.
作者
陶东英
张惠琴
张静静
牛焕红
成胜权
Tao Dongying;Zhang Huiqin;Zhang Jingjing;Niu Huanhong;Cheng Shengquan(Department of Pediatrics,the First Affiliated Hospital of Air Force Military Medical University,Shaanxi,Xi'an 710032,China)
出处
《发育医学电子杂志》
2024年第3期193-198,共6页
Journal of Developmental Medicine (Electronic Version)
基金
中华国际医学交流基金会儿科内分泌中青年医师成长科研基金(Z-2019-41-2101-01)。
