影响Turner综合征患儿生长激素疗效的相关因素分析  

Analysis of the influencing factors of recombinant human growth hormone effect in the children with Turner syndrom

作　　者：李婕 吴薇[2] 梁雁 罗小平[2] Li Jie;Wu Wei;Liang Yan;Luo Xiaoping(Department of Pediatrics,Sichuan Provincial Academy of Medical Science,Sichuaa Provincial People＇s Hospital,Chengdu 610072,China;Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]四川省医学科学院四川省人民医院儿科,成都610072 [2]华中科技大学同济医学院附属同济医院儿科

出　　处：《中华儿科杂志》2018年第11期866-870,共5页Chinese Journal of Pediatrics

基　　金：＂十二五＂国家科技支撑计划项目（2012BAI09B04）;卫生部临床学科重点建设项目（2011-2014）

摘　　要：目的探讨影响Turner综合征患儿生长激素疗效的相关因素。方法对2010年1月—2017年1月在华中科技大学同济医学院附属同济医院儿科经重组人生长激素治疗1年以上的31例Turner综合征患儿的临床资料、核型、生长激素受体（GHR）外显子3多态性等进行回顾性研究分析。利用PCR方法检测GHR外显子3缺失多态性，按GHR外显子3基因型患儿分为GHR全长型、GHR外显子3杂合缺失型及GHR外显子3纯合缺失型三组，按染色体核型将患儿分为45,X核型组与其他核型组，观察身高标准差积分（Ht-SDS）、生长速率的变化。采用t检验、方差分析、多元线性回归分析对结果进行统计分析。结果（1）31例Turner综合征患儿就诊年龄（12.2±2.9）岁，骨龄（8.9±2.4）岁，身高（126.2±10.5）cm，Ht-SDS为－3.5±1.3。染色体核型：45,X 14例，其他核型17例。GHR外显子3基因型：GHR全长型13例（42%）、GHR外显子3杂合缺失型14例（45%）、GHR外显子3纯合缺失型4例（13%）。首诊原因：31例患儿中26例因身材矮小就诊（81%），5例因无第二性征发育就诊。（2）生长激素治疗后，生长速率（cm/年）（7.3±1.4、7.0±3.0、7.0±1.3）及Ht-SDS（－2.8±1.2、－2.5±0.9、－2.2±0.8）明显高于治疗前水平（2.9±0.9、－3.5±1.3），差异均有统计学意义（F=54.12，4.43，均P〈0.05）。rhGH治疗第3年较治疗第1年Ht-SDS（－2.2±0.8、－2.8±1.2）比较，差异有统计学意义（t=－2.3，P〈0.05）。（3）rhGH治疗前，45,X核型组身高明显低于其他核型组身高[（122.1±9.1）cm比（129.9±10.3）cm，t=－2.2，P〈0.05]，rhGH治疗前及治疗后，两组生长速率（cm/年）、Ht-SDS差异无统计学意义，但随着治疗时间延长，其他核型组Ht-SDS比45,X核型组有改善趋势。（4）不同基因型患儿间rhGH短期及长期治疗后生长速率、Ht-SDS差异均无统计学意义。（5）多因素线性回归分析提�ObjectiveTo analyze the clinical data, karyotype, growth hormone receptor （GHR） exon 3 polymorphism, etc. in Turner syndrome before and after recombinant human growth hormone （rhGH） treatment, and thereby to understand the related factors influencing the rhGH curative effect in children with Turner syndrome.MethodsThis was a retrospective study of 31 cases with Turner syndrome who were treated with growth hormone for more than 1 year in the pediatric outpatient department of Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology from January 2010 to January 2017. The GHR Exon3 polymorphism was detected by PCR assay, Turner syndrome children were divided according to GHR exon3 genotype for homozygous for the full-length GHR isoform （fl/fl-GHR）and carriers of one or two copies of the GHR exon3 allele（fl/d3-GHR;d3/d3-GHR）.According to the karyotype, the children were divided into 45,X karyotype group and other karyotype group. The height standard deviation （Ht-SDS） and growth velocity （GV） as indicators to measure rhGH treatment efficacy, the data were analyzed by the SPSS12.0 software （t test, one-way ANOVA and multiple linear regression analysis）.Results（1） The mean age at diagnosis of 31 cases was （12.2±2.9） years, the bone age was （8.9±2.4） years, the height was （126.2±10.5） cm and the Ht-SDS was （-3.5±1.3） SDS. The karyotype was 45,X in 14 patients, 17 cases had other karyotypes. Thirteen cases were of （fl/fl-GHR） （42%）, 14 cases of fl/d3-GHR （45%） and 4 cases of d3/d3-GHR（13%）.Among the 31 cases, the main reason for 5 patients＇ hospitalization was no secondary sexual characteristics, another 26 cases had short stature （accounting for 81%）.（2） After Growth hormone treatment, growth rate （cm/year）（7.3±1.4, 7.0±3.0, 7.0±1.3） and Ht-SDS （-2.8±1.2, -2.5±0.9, -2.2±0.8） were significantly higher than the pre-treatment levels （2.9±0.9, -3.5±1.3）, the difference was statisti

关 键 词：特纳综合征 受体 促生长素 重组人生长激素 

分 类 号：R725.9[医药卫生—儿科]