Noonan综合征患儿不同致病基因生长激素治疗效果比较。

Korean Journal of Pediatrics Pub Date : 2019-07-01 Epub Date: 2018-12-03 DOI:10.3345/kjp.2018.06842
Kyo Jin Jo, Yoo Mi Kim, Ju Young Yoon, Yeoun Joo Lee, Young Mi Han, Han-Wook Yoo, Hyang-Sook Kim, Chong Kun Cheon
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引用次数: 10

摘要

目的:分析不同基因突变的青春期前Noonan综合征(NS)患者对生长激素(GH)治疗的生长反应。方法:选取2009年3月至2017年7月在釜山国立大学儿童医院接受治疗的23例青春期前NS患者。根据鉴定的致病基因将NS患者分为4组。三组患者PTPN11、RAF1和SOS1基因突变阳性。未检测五基因(FGU)组PTPN11、RAF1、SOS1、KRAS和BRAF基因突变均为阴性。通过比较生长激素治疗后的生长参数,回顾性分析基因型的影响。结果:GH治疗开始时的平均实足年龄为5.85±2.67岁。在GH治疗开始时,两组患者的身高标准差评分(SDS)、生长速度(GV)和胰岛素样生长因子-1 (IGF)-1水平较低,差异无统计学意义。治疗3年间,23例NS患者的身高SDS和血清IGF-1水平均显著升高。GV在治疗的第一年最高。在3年的生长激素治疗期间,PTPN11、RAF1和SOS1组在身高SDS、IGF-1 SDS和GV方面的改善程度较FGU组低,骨年龄-实足年龄比的增加程度较FGU组低。结论:23例青春期前NS患者经3年生长激素治疗后,身高SDS、GV、血清IGF-1水平均有明显改善。FGU组对重组人GH治疗的反应优于PTPN11、RAF1和SOS1组。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome.

Purpose: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations.

Methods: Twenty-three patients with prepubertal NS treated at Pusan National University Children's Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were positive for mutations of the PTPN11, RAF1, and SOS1 genes. The five genes undetected (FGU) group was negative for PTPN11, RAF1, SOS1, KRAS, and BRAF gene mutations. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy.

Results: The mean chronological age at the start of GH treatment was 5.85±2.67 years. At the beginning of the GH treatment, the height standard deviation score (SDS), growth velocity (GV), and lower levels of insulin-like growth factor-1 (IGF)-1 levels were not statistically different among the groups. All the 23 NS patients had significantly increased height SDS and serum IGF-1 level during the 3 years of treatment. GV was highest during the first year of treatment. During the 3 years of GH therapy, the PTPN11, RAF1, and SOS1 groups showed less improvement in height SDS, IGF-1 SDS, and GV, and less increase in bone age-to-chronological age ratio than the FGU group.

Conclusion: The 3-year GH therapy in the 23 prepubertal patients with NS was effective in improving height SDS, GV, and serum IGF-1 levels. The FGU group showed a better response to recombinant human GH therapy than the PTPN11, RAF1, and SOS1 groups.

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期刊介绍: Korean J Pediatr covers clinical and research works relevant to all aspects of child healthcare. The journal aims to serve pediatricians through the prompt publication of significant advances in any field of pediatrics and to rapidly disseminate recently updated knowledge to the public. Additionally, it will initiate dynamic, international, academic discussions concerning the major topics related to pediatrics. Manuscripts are categorized as review articles, original articles, and case reports. Areas of specific interest include: Growth and development, Neonatology, Pediatric neurology, Pediatric nephrology, Pediatric endocrinology, Pediatric cardiology, Pediatric allergy, Pediatric pulmonology, Pediatric infectious diseases, Pediatric immunology, Pediatric hemato-oncology, Pediatric gastroenterology, Nutrition, Human genetics, Metabolic diseases, Adolescence medicine, General pediatrics.
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