[生长激素治疗生长激素缺乏症、特发性矮身材、SHOX 基因突变、胎龄小和特纳综合征患儿]。

IF 0.5 Q4 PEDIATRICS Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-04-01 Epub Date: 2024-04-13 DOI:10.32641/andespediatr.v95i2.4941
Mariana Griffero González, Diego González Navarrete, Francisco Tolosa Navarro, Patricia López Cuevas, Fernando Rodríguez Convertino, Rossana Román Reyes
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引用次数: 0

摘要

生长激素(GH)在多种情况下可有效改善身高:描述 2012-2022 年间在一家三级医疗中心接受 GH 治疗的一组儿童的身高变化情况:描述性、回顾性研究。我们根据病因、发病年龄和骨龄分析了使用 GH 后 Z 值对身高的影响。研究对象包括基线年龄在15岁以下、接受GH治疗至少12个月、诊断为GH缺乏症(GHD)、特发性矮身材(ISS)、小于胎龄(SGA)、SHOX单倍体缺乏症(SHOX)和特纳综合征(TS)的患者。根据 NCHS 曲线,身高以年龄和性别的 Z 值表示:结果:145 名儿童接受了 GH 治疗。有 60 名患者因不规则用药、数据不完整、接受 GH 治疗不足 12 个月、更换医院和相关合并症而被排除在外。对73名患者进行了分析,其中包括23名GHD患者、15名ISS患者、20名SGA患者、9名SHOX患者和6名TS患者。观察发现,SGA(增高 1.4 ± 0.8;p < 0.001)、GHD(增高 1.1 ± 1.0;p < 0.001)、ISS(增高 1.1 ± 0.8;p < 0.001)和 SHOX(增高 0.8 ± 0.7;p = 0.007)患者的身高(年龄和性别 Z 值)均有显著改善。在 TS 患者中,观察到的改善无统计学意义(0.7 ± 0.8;p = 0.085)。在 GHD 患者中,3 岁前发病的患者的疗效为 1.9 ± 1.1 vs 0.7 ± 0.6(p = 0.083);在 ISS 患者中,骨龄小于 9 岁的患者的疗效为 1.7 ± 0.5 vs 0.5 ± 0.5(p < 0.001):27/73(37%)人头痛,18/73(24%)人下肢疼痛,1/73(1.5%)人头晕,1/73(1.5%)人脊柱侧弯,1/73(1.5%)人骨外溶解,1/73(1.5%)人颅咽管瘤复发:GHD、ISS、SHOX基因突变和SGA患儿的身高均有明显改善,GHD和ISS患儿的早期治疗尤为重要。在分析的 5 组儿童中,治疗耐受性良好。
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[Growth Hormone treatment in children with Growth Hormone deficiency, idiopathic short stature, SHOX gene mutation, small for gestational age and Turner syndrome].

Growth hormone (GH) is effective in improving height in several conditions.

Objective: To describe the evolution of a group of children who received GH in a tertiary center between 2012-2022.

Patients and method: Descriptive, retrospective study. We analyzed the impact on height after GH use with Z-score according to etiology, age at onset and bone age. Patients under 15 years old at baseline and receiving GH for at least 12 months, with diagnoses of GH deficiency (GHD), idiopathic short stature (ISS), small for gestational age (SGA), SHOX Haploinsufficiency (SHOX) and Turner syndrome (TS) were included. Height was expressed as Z-score for age and sex, according to NCHS curves.

Results: 145 children received GH. Sixty patients were excluded due to irregular administration, incomplete data, less than 12 months of GH, change of hospital, and associated comorbidities. Seventy-three patients were analyzed, 23 GHD, 15 ISS, 20 SGA, 9 SHOX and 6 TS patients. Significant improvement in height (Z-score for age and sex) was observed in SGA (1.4 ± 0.8 gain; p < 0.001), GHD (1.1 ± 1.0; p < 0.001), ISS (1.1 ± 0.8; p < 0.001) and SHOX (0.8 ± 0.7; p = 0.007) patients. In TS, a non-statistically significant improvement was observed (0.7 ± 0.8; p = 0.085). In GHD, onset before 3 years showed a gain of 1.9 ± 1.1, vs 0.7 ± 0.6 (p = 0.083) and in ISS onset with bone age less than 9 years increased it by 1.7 ± 0.5 vs 0.5 ± 0.5 (p < 0.001).

Adverse events: 27/73 (37%) headache, 18/73 (24%) lower extremity pain, 1/73 (1.5%) dizziness, 1/73 (1.5%) scoliosis, 1/73 (1.5%) epiphysiolysis and 1/73 (1.5%) craniopharyngioma recurrence.

Conclusions: Children with GHD, ISS, SHOX mutation and SGA significantly improved their height, highlighting in GHD and ISS the importance of early treatment. Treatment was well tolerated in the 5 groups analyzed.

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