共济失调毛细血管扩张症患者的生长激素治疗
Growth hormone treatment in patients with ataxia telangiectasia.
作者信息
Woelke Sandra, Pommerening Helena, Kieslich Matthias, Schubert Ralf, Zielen Stefan
机构信息
a Division for Allergy, Pneumology and Cystic Fibrosis, Department for Children and Adolescents , Goethe University , Frankfurt am Main , Germany.
b Division for Neurology, Department for Children and Adolescents , Goethe-University , Frankfurt am Main , Germany.
出版信息
Growth Factors. 2017 Jun;35(2-3):125-130. doi: 10.1080/08977194.2017.1367681.
INTRODUCTION
Ataxia telangiectasia (A-T) is a devastating autosomal recessive disorder with chromosomal instability and growth failure. Low levels of growth hormone (GH) and growth factors may be related to advanced neurological deterioration, wasting syndrome and more pronounced immunodeficiency.
OBJECTIVE
The objective of this study is to study safety and effectiveness of GH therapy in patients with A-T and evaluate the effect of GH on ataxia and lymphocyte subsets.
METHODS
Three patients with classical A-T were treated with GH (0.3 mg/kg/d) for 1 year. Growth rate, ataxia score and lymphocyte subsets were monitored.
RESULTS
GH treatment was well tolerated. All patients showed a significant increase of height SDS of +1.3 (mean height SDS -1.994), a mean increase of 8 (6-11) cm/12 months. Lymphocytes subsets and ataxia were not altered before and after GH treatment.
CONCLUSIONS
Treatment with GH is feasible and effective in A-T patients with severe growth arrest, but no effect on ataxia and lymphocytes could be recorded.
引言
共济失调毛细血管扩张症（A-T）是一种具有染色体不稳定和生长发育迟缓的严重常染色体隐性疾病。生长激素（GH）和生长因子水平降低可能与严重的神经功能恶化、消瘦综合征及更明显的免疫缺陷有关。
目的
本研究旨在探讨生长激素治疗共济失调毛细血管扩张症患者的安全性和有效性，并评估生长激素对共济失调及淋巴细胞亚群的影响。
方法
3例典型共济失调毛细血管扩张症患者接受生长激素（0.3mg/kg/d）治疗1年。监测生长速率、共济失调评分及淋巴细胞亚群。
结果
生长激素治疗耐受性良好。所有患者身高标准差评分显著增加1.3（平均身高标准差评分-1.994），平均每年增高8（6-11）cm。生长激素治疗前后淋巴细胞亚群及共济失调情况未发生改变。
结论
生长激素治疗对严重生长停滞的共济失调毛细血管扩张症患者可行且有效，但对共济失调及淋巴细胞无影响。
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