重组人生长激素治疗生长激素缺乏症86例疗效分析

目的研究国产和进口重组人生长激素(rhGH)治疗生长激素缺乏症(GHD)的临床效果.方法应用国产rhGH治疗GHD 67例,身高(118.4±14.4)cm,身高SDS-(4.1±1.6).生长速率(3.0±0.8)cm/年.进口rhGH 19例,身高(129.3±9.0)cm,身高SDS-(5.5±1.6),生长速率(2.8±1.1)cm/年.rhGH,每公斤体重每日0.1IU,疗程6个月.结果 rhGH对这些患儿体格的线性生长有显著促进作用(P＜0.001),国产rhGH治疗6个月生长速率(12.6±3.6)cm/年,进口rhGH(12.0±2.2)cm/年,两者差异无显著性应用国产rhGH的完全性GHD和部分性GHD6个月的生长速率分别为(13.4±3.7)cm/年和(10.3±2.2)cm/年,两者差异有显著性(P＜0.002).本文86例中,骨龄≤5岁和≥7岁6个月生长速率分别为(14.1±3.3)cm/年和(11.     

人生长激素治疗生长激素缺乏症的疗效及安全性

目的研究国产重组人生长激素(rhGH)治疗生长激素缺乏症(GHD)的临床效果和安全性.方法GHD67例,年龄11.93±3.18岁,身高118.41±14.36cm,生长速率2.95±0.8cm/a.给予国产rhGH,0.1U·kg-1·d-1,疗程6月.结果rhGH对患儿体格的线性生长有显著促进作用(P<0.001),完全性GHD和部分性GHD6个月的生长速率分别为13.36±3.73cm/a和10.33±2.21cm/a,两者差别有高度显著性(P<0.01).结论国产rhGH是一种治疗GHD的有效药物,近期效果和进口的rhGH相似,并且完全性GHD的疗效比部分性GHD好.     

儿童原发性生长激素缺乏症远期随访:附80例临床分析

目的 观察原发性儿童生长激素缺乏症(CO-GHD)过渡至成人期终身高(FAH)、脂代谢变化、性发育及生活质量等问题,再评估进入成年期后生长激素(GH)-胰岛素样生长因子I(IGF-I)轴功能.探讨不同类型GHD各时期的有效管理.方法 原发性CO-GHD随访至成人期80例,男62例,年龄均≥18岁;女18例,年龄均≥16岁.其中单纯性GHD(IGHD)22例、多垂体激素缺乏(MPHD)58例.随访身高、体重、血压、生长速率(GV)、性发育及婚育状况;空腹血脂、血糖、胰岛素、IGF-I及胰岛素样生长因子结合蛋白3(IGFBP3);骨龄、B超(肝、盆腔)、学历职业、既往rhGH及其他激素治疗等.结果 rhGH治疗组较未治组FAH有明显改善;两组血脂、血糖和胰岛素水平无统计学差异,血脂异常检出率分别为39.0%、47.4%;脂肪肝检出率26.8%、31.6%,均无统计学差异(P>0.05),尚无代谢综合征发现.IGHD与MPHD患者IGF-I SDS分别为-1.43+0.31、-3.01±0.66,IGFBP3 SDS为-2.10±0.33、-3.17±0.19,差异均有统计学意义(P<0.05).IGHD患者性发育正常,MPHD性功能低下者占79.7%,婚育状况较IGHD者差.结论 CO-GHD经rhGH治疗可改善FAH;转换期后再评估GH-IGF轴是必要的;成年后有血脂代谢异常的风险;IGHD育龄妇女可正常生育,MPHD虽存在垂体低促性腺激素,但亦有程度差异.     

21羟化酶缺乏症85例随访分析

目的总结21-羟化酶缺陷(21-OHD)患儿的临床资料,分析治疗效果及终身高、成年生活质量,以求在今后寻找更好的治疗方案。方法追踪随访85例21-OHD患儿的实验室指标、药物治疗等因素对患儿终身高的影响及部分患儿成年后的生活状况。结果治疗者中男性失盐型(SW型)6例终身高明显小于靶身高和正常成人身高,女性SV型6例终身高小于靶身高和正常成人身高,未治疗者终身高亦小于靶身高和正常成人身高。男、女终身高及终身高SDS与可的松剂量无相关性。联合应用促性腺激素释放激素类似物(GnRHa)治疗2例大于5年预测身高明显增加,达正常成人水平。4例成年女性3例月经不规则。结论绝大多数21-OHD患者终身高不能达到靶身高和正常成人身高水平。皮质激素治疗剂量可能是影响身高改善的重要因素。伴有性早熟者加用GnRHa可改善预测身高。成年女性生活质量欠佳,可能影响生育功能。     

单纯促性腺激素释放激素类似物或联合重组人生长激素治疗青春期矮小患儿的疗效分析

目的 比较分析单纯促性腺激素释放激素类似物(GnRHa)或联合重组人生长激素(rhGH)治疗青春期非生长激素缺乏矮小(NGHDSS)患儿的助长疗效,探讨科学有效的青春期助长治疗方案.方法 42例青春期NGHDSS患儿(男性14,女性28),采用GnRHa联合rhGH治疗者(联合组)30例,单独GnRHa 治疗者(单治组)12例.GnRHa初始剂量100ug·kg-1·d-1(28 d),维持剂量60-80μg·kg-1·d-1(28d);rhGH初始剂量0.15 IU·ks-1·d-1(28 d),维持剂量0.10～0.15 IU·ks-1·d-1(28 d),疗程均为1-2年.主要观察各组年生长速率(GV)、对年龄的身高标准差分值(HtSDSCA)、对骨龄的身高标准差分值(HtSDSBA)、预测身高标准差分值(PAHSDS)的动态变化.结果 (1)1年疗效:联合组治疗前后比较,GV、HtSDSCA、HtSDSBA、PAHSDS变化均有统计学意义(均P<0.05).单治组患儿治疗前后比较,GV、HtSDSCA、HtSDSBA、PAHSDS变化均无统计学意义(均P>0.05).2组间比较,GV、HtSDSBA、PAHSDS均有显著性差异(均P<0.05).(2)2年疗效:联合组治疗前后比较,GV、HtSDSCA、HtSDSBA、PAHSDS变化均有统计学意义(均P<0.05).单治组治疗前后比较,GV、HtSDSCA、HtSDSBA、PAHSDS变化均无统计学意义(均P>0.05).2组间比较,GV、HtSDSBA、HtSDSCA、PAHSDS均有显著性差异(均P<0.05).结论 采用GnRHa联合rhGH治疗青春发育初期的NGHDSS患儿能有效促进近期生长速率,其疗效明显优于单独GnRHa治疗,但对成年终身的贡献尚待研究.

Abstract：

Objective To assess the efficacy of gonadotropin-releasing hormone analogue(GnRHa)with or without recombinant human growth hormone(rhGH)treatment in Chinese short pubertal children with non-growth hormone deficiency.Methods Of 42 short pubertal children(14 males,28 females)without growth hormone deftcieney,the average age was(11.6±0.8)year.30 children were treated with slow release GnRHa with initial dose (100μg·kg-1·d-1,28d)and maintenance dose(60-80μg·kg-1·d-1,28d)labd rgGH with initial dose(0.15IU·kg-1·d-1)and maintenance dose(0.10-0.15IU·kg-1·d-1)for at least 1year.16 of them were still ongoing till the end of the second year.12 children were treated with GnRHa alone by initial dose(100μg·kg-1·d-1,28d)and maintenance dose (60-80μg·kg-1·d-1,28d),and 7 of them remained on it for 2 years.Dynamic changes including annual growth velocity(GV),bone age(BA)/chronologic age(CA)ratio,Tanner stage,height SDS for CA (HtSDSCA),height SDS for BA(HtSDSBA),and predicted adult height (PAHSDS)were observed.Results By the end of the first year tretment with combination therapy,the following parameters:GV,HtSDSCA,HtSDSBA,and PAHSDS all increased significantly(all P<0.05).Treatment with GnRHa alone did not yield significant changes in GV,HtSDSCA,HtSDSBA,and PAHSDS(all P>0.05).Changes in GV,HtSDSBA,and PAHSDS between these two groups were statistically significant(all P<0.05).By the end of the second year treatment,in the combination group,GV slowed from 6.7 to 5.5 cm/year(P<0.05).HtSDSCA,HtSDSBA,PAHSDS increased(all P<0.05).In the group with GnRHa treatment alone,GV slowed from 4.0 to 3.6 cm/year(P>0.05).HtSDSCA,HtSDSBA,PAHSDS increased(all P>0.05).Changes in GV,HtSDSCA,HtSDSBA,and PAHSDS between these 2 groups were statistically significant respectively(all P<0.05).Conclusion This combined treatment regimen significantly impreved the growth by increasing growth rate and delaying bone matumtion in pubertal chidren without growth hormone deficiency.Further study is needed to verify beneficial effects on the final height gain.     

89例克氏综合征的核型与临床

克氏综合征（Klinefelter’s syndrome）即先天性睾丸发育不全,是常见的性染色体异常疾病,主要表现为小睾丸,小阴茎,乳房女性化。常见的核型为47,XXY或46,XY／47,XXY嵌合体型,有多种变型如XXYY,XXXY,XXXYY。我院儿科实验室自1981～2003年共检出89例。现将其染色体核型及临床表现分析于后。     

儿童艾滋病一例报告

目的探讨儿童艾滋病早期诊断.方法对1例儿童艾滋病临床资料总结分析.结果患者以视力减退起病,渐失明伴腹泻霉菌感染,卡介苗接种反复不愈,体重进行性下降,HIV检查证实为AIDS.结论有不明原因慢性腹泻霉菌感染等免疫功能减低表现者,应尽早作HIV检测明确诊断.     

单纯促性腺激素释放激素类似物或联合重组人生长激素治疗青春期矮小患儿的疗效分析

Objective To assess the efficacy of gonadotropin-releasing hormone analogue(GnRHa)with or without recombinant human growth hormone(rhGH)treatment in Chinese short pubertal children with non-growth hormone deficiency.Methods Of 42 short pubertal children(14 males,28 females)without growth hormone deftcieney,the average age was(11.6±0.8)year.30 children were treated with slow release GnRHa with initial dose (100μg·kg-1·d-1,28d)and maintenance dose(60-80μg·kg-1·d-1,28d)labd rgGH with initial dose(0.15IU·kg-1·d-1)and maintenance dose(0.10-0.15IU·kg-1·d-1)for at least 1year.16 of them were still ongoing till the end of the second year.12 children were treated with GnRHa alone by initial dose(100μg·kg-1·d-1,28d)and maintenance dose (60-80μg·kg-1·d-1,28d),and 7 of them remained on it for 2 years.Dynamic changes including annual growth velocity(GV),bone age(BA)/chronologic age(CA)ratio,Tanner stage,height SDS for CA (HtSDSCA),height SDS for BA(HtSDSBA),and predicted adult height (PAHSDS)were observed.Results By the end of the first year tretment with combination therapy,the following parameters:GV,HtSDSCA,HtSDSBA,and PAHSDS all increased significantly(all P<0.05).Treatment with GnRHa alone did not yield significant changes in GV,HtSDSCA,HtSDSBA,and PAHSDS(all P>0.05).Changes in GV,HtSDSBA,and PAHSDS between these two groups were statistically significant(all P<0.05).By the end of the second year treatment,in the combination group,GV slowed from 6.7 to 5.5 cm/year(P<0.05).HtSDSCA,HtSDSBA,PAHSDS increased(all P<0.05).In the group with GnRHa treatment alone,GV slowed from 4.0 to 3.6 cm/year(P>0.05).HtSDSCA,HtSDSBA,PAHSDS increased(all P>0.05).Changes in GV,HtSDSCA,HtSDSBA,and PAHSDS between these 2 groups were statistically significant respectively(all P<0.05).Conclusion This combined treatment regimen significantly impreved the growth by increasing growth rate and delaying bone matumtion in pubertal chidren without growth hormone deficiency.Further study is needed to verify beneficial effects on the final height gain.