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为患有Fanconi贫血的儿童制定特定的生长图表

Crystal Barbus¹, Arpana Rayannavar¹, Bradley S Miller¹

¹Division of Endocrinology, Department of Pediatrics, University of Minnesota Medical School and M Health Fairview Masonic Children's Hospital, Minneapolis, Minnesota, USA.

American journal of medical genetics. Part A

|February 6, 2024

概括

芬科尼贫血 (FA) 患者表现出独特的生长模式. 开发特定于FA的生长图表对于精确监测和管理这些个体的生长至关重要.

科学领域:

儿科儿科儿科
遗传学是一个遗传学.
内分泌学在内分泌学.

背景情况:

患有Fanconi贫血 (FA) 的患者在使用一般人口增长图表进行评估时经常显示生长偏差.
准确的生长评估对于管理FA患者至关重要,需要定制的参考标准.

研究的目的:

开发Fanconi贫血病特定的身高,体重和BMI的生长图表.
将FA增长轨迹与现有的WHO和CDC增长标准进行比较.

主要方法:

在明尼苏达大学从0-20岁的FA患者收集了身高和体重数据.
使用Lambda-Mu-Sigma方法生成增长曲线,并与参考百分位数相匹配.
与世界卫生组织 (0-2岁) 和疾病预防控制中心 (2-20岁) 的标准相比,针对FA的百分位被比较.

主要成果:

FA男性的第50个身高和体重百分位与参考图表的第3个百分位对齐.
FA女性的第50个身高百分位与第3个参考百分位一致;体重显示失败然后稳定.
FA BMI-for-age百分位数反映了体重模式,但在脂肪反弹时间和女性变异性方面有所不同.

结论:

与规范性数据相比,Fanconi贫血患者的增长遵循了不同的轨迹.
针对FA的增长图表对于准确的增长预期设定,评估和治疗指导至关重要.

关键词:

芬科尼贫血症是什么意思在LMS方法中使用LMS方法.增长延迟增长延迟增长延迟疾病特异性图表疾病特异性图表增长的增长增长的增长增长的增长.血造细胞移植是血造细胞的移植.

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