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15号环状染色体综合征患者对生长激素治疗有良好的生长反应。

Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.

作者信息

Nuutinen M, Kouvalainen K, Knip M

机构信息

Department of Paediatrics, University of Oulu, Finland.

出版信息

J Med Genet. 1995 Jun;32(6):486-7. doi: 10.1136/jmg.32.6.486.

Abstract

Ring chromosome 15 syndrome is a rare condition in which severe growth retardation is a major finding. We report a 4 year old boy with the karyotype 46,XY, r(15)(p11.2q26.2) whom we have treated with recombinant human growth hormone (GH) for two years. During the first year of treatment, the insulin-like growth factor I increased from subnormal 4.2 nmol/l to normal 13.8 nmol/l and the insulin-like growth factor binding protein 3 levels increased from 2.6 to 3.8 mg/l, whereas high binding protein 1 concentrations normalised from 52.0 to 16.7 micrograms/l. During the two years of treatment his relative height improved from -6.2 SD to -4.4 SD and the predicted adult height from 159.6 cm to 163.5 cm. Owing to the good growth response, we have decided to continue GH treatment.

摘要

15号环状染色体综合征是一种罕见病症,严重生长发育迟缓是其主要表现。我们报告了一名核型为46,XY, r(15)(p11.2q26.2)的4岁男孩,我们用重组人生长激素(GH)对其进行了两年治疗。在治疗的第一年,胰岛素样生长因子I从低于正常水平的4.2 nmol/l升至正常水平的13.8 nmol/l,胰岛素样生长因子结合蛋白3水平从2.6 mg/l升至3.8 mg/l,而高亲和力结合蛋白1浓度从52.0微克/升降至正常的16.7微克/升。在两年的治疗期间,他的相对身高从-6.2标准差提高到-4.4标准差,预测成人身高从159.6厘米提高到163.5厘米。由于生长反应良好,我们决定继续进行GH治疗。

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Two patients with ring chromosome 15 syndrome.两名患有15号环状染色体综合征的患者。
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A case of ring chromosome 15 accompanied by almost normal intelligence.
Hum Genet. 1990 Jun;85(1):138-9. doi: 10.1007/BF00276343.
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Familial occurrence of ring chromosome 15.15号环状染色体的家族性发生。
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