矮身材儿童147例病因分析和治疗研究

发布时间：2018-09-04 15:12

【摘要】：目的分析矮身材儿童的病因及治疗效果,积累该类患儿的诊疗经验。方法回顾性分析广西医科大学第一附属医院2011年1月至2012年12月就诊的147例矮身材儿童的临床资料,总结其病因及治疗特点。结果 (1)、符合纳入标准矮身材儿童共147例,其中男98例(66.67%),女49例(33.33%)；年龄6月-14.7岁。 (2)、生长激素缺乏症(GHD)92例,占62.59%；特发性矮小(ISS)28例,占19.05%；骨骼发育障碍8例,占5.44%；甲状腺功能减退症5例,占3.40%；Turner's综合征4例,占2.72%；其他疾病共10例,占6.8%。 (3)、Turner's综合征中,1例单体型体征典型,3例嵌合体型仅表现为矮身材。 (4)、130例患儿进行颅脑MRI检查,异常者61例,占46.92%,垂体发育不良占异常者的90.16%。 (5)、GHD组和工SS组患儿就诊时身高标准差积分(HtSDS)平均值分别为-3.05±1.38、-2.23±1.09,GHD组明显矮于ISS组(P=0.006)；GHD组与ISS组IGF-1及IGFBP-3水平比较无明显差异。4例身材极矮GHD患儿血清IGF-1、IGFBP-3水平极低。 (6)、40例患儿应用rhGH治疗,GHD组34例,rhGH剂量为0.10IU/Kg/d,ISS组6例,rhGH剂量为0.15IU/Kg/d。垂体区域异常、治疗前身高不影响患儿对rhGH治疗反应的敏感性,GHD组与工SS组比较治疗效果无明显差异；rhGH治疗前半年(0-6月)的身高增值、生长速度大于治疗后半年(6-12月)；rhGH治疗过程中,仅1例患儿使用rhGH后出现颜面部皮疹,伴瘙痒,未观察到其他副作用。结论 (1)、内分泌疾病所致矮身材占大多数,生长激素缺乏症最多见,部分GHD及ISS患儿存在垂体发育不良。 (2)、外周血染色体核型分析对矮身材女童诊断有重要意义。 (3)、血清IGF-1、IGFBP-3水平明显低于正常,有助于诊断严重的GHD,但依赖IGF-1、IGFBP-3水平测定无法鉴别GHD与工SS。 (4)、rhGH治疗不良反应事件发生率低,安全性高。 (5)、矮身材儿童应明确病因,对因治疗,并长期随访。
[Abstract]:Objective to analyze the etiology and therapeutic effect of children with short stature and to accumulate experience in diagnosis and treatment. Methods the clinical data of 147 children with short stature from January 2011 to December 2012 in the first affiliated Hospital of Guangxi Medical University were retrospectively analyzed and the etiology and treatment characteristics were summarized. Results (1) there were 147 children with short stature according to the inclusion criteria, including 98 males (66.67%) and 49 females (33.33%), aged from 6 months to 14.7 years old. (2) 92 cases of growth hormone deficiency (GHD), accounting for 62.59%, 28 cases of idiopathic dwarf (ISS) (19.05%). There were 8 cases of skeletal dysplasia (5.44%), 5 cases of hypothyroidism (3.40%), 4 cases of Turners syndrome (2.72%), 10 cases of other diseases, (3) one case of haplotype sign typical sign 3 cases of chimerism only showed short stature. (4) 130 cases of children with craniocerebral MRI were examined by craniocerebral MRI, 61 cases were abnormal. In 46.92 cases, pituitary dysplasia accounted for 90.16% of the abnormal ones. (5) the mean value of standard deviation (HtSDS) of height standard deviation in GHD group and SS group was -3.05 卤1.38 卤-2.23 卤1.09g / d, respectively, which was significantly lower than that in ISS group (P0. 006). There was no significant difference in the levels of IGF-1 and IGFBP-3 between the GHD group and the ISS group. (6) there was no significant difference in the level of serum IGF-1,IGFBP-3 between the GHD group and the ISS group. (6) the serum IGF-1,IGFBP-3 level was very low in 40 patients with GHD. (6) the dose of rhGH was 0.10 IUU / kg / d in the rhGH group. There was no significant difference in the therapeutic effect between the rhGH group and the SS group. The growth rate was higher than that in the first half year (0-6 months), and the growth rate was higher than that in the first half year (6-12 months). In the course of rhGH treatment, only one child developed facial rash with itching and no other side effects after using rhGH. Conclusion (1) the majority of the patients with endocrine diseases are short stature, and the growth hormone deficiency is the most common. Some children with GHD and ISS have pituitary dysplasia. (2) the karyotype analysis of peripheral blood chromosome has important significance for the diagnosis of short girl. (3) the level of serum IGF-1,IGFBP-3 is significantly lower than that of normal. It is helpful to diagnose severe GHD, but can not distinguish between GHD and SS. (4). The incidence of adverse events is low and the safety is high. (5) Children with short stature should know the cause of the disease and follow up for a long time.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R725.8

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