Suppr超能文献

伴有生长激素缺乏的范科尼贫血

Fanconi's anemia with growth hormone deficiency.

作者信息

Nordan U Z, Humbert J R, MacGillivray M H, Fitzpatrick J E

出版信息

Am J Dis Child. 1979 Mar;133(3):291-3. doi: 10.1001/archpedi.1979.02130030067011.

Abstract

The association of Fanconi's anemia (FA) and growth hormone (-gh) deficiency is not commonly reported. These children may have the typical features of the FA syndrome, or may exhibit much variability in clinical and hematological findings. In a single family, members may have FA with or without GH deficiency. The genetic basis for this heterogeneity is unknown. We describe here two siblings with FA, one of whom had dwarfism due to GH deficiency. Combined treatment with GH and androgen (oxymetholone) resulted in strikingly greater acceleration of growth than did the use of GH alone. Pancytopenia was not influenced by hormone therapy.

摘要

范可尼贫血(FA)与生长激素(-gh)缺乏之间的关联并不常见。这些儿童可能具有FA综合征的典型特征,或者在临床和血液学表现上可能有很大差异。在一个家庭中,成员可能患有或不患有生长激素缺乏的FA。这种异质性的遗传基础尚不清楚。我们在此描述了两名患有FA的兄弟姐妹,其中一人因生长激素缺乏而患有侏儒症。生长激素和雄激素(羟甲烯龙)联合治疗比单独使用生长激素导致的生长加速显著更大。全血细胞减少症不受激素治疗的影响。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验