在评估囊性纤维化儿童的身高时纳入遗传潜力。

Incorporating genetic potential when evaluating stature in children with cystic fibrosis.

机构信息

Department of Nutritional Sciences, University of Wisconsin, Madison, Wisconsin, United States.

出版信息

J Cyst Fibros. 2010 Mar;9(2):135-42. doi: 10.1016/j.jcf.2010.01.003.

DOI:10.1016/j.jcf.2010.01.003

PMID:20138592

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2834199/

Abstract

OBJECTIVE

The 2002 Cystic Fibrosis Foundation (CFF) practice guidelines recommend adjusting for genetic potential when evaluating height status in children with CF. However, there is paucity of data to support this recommendation. We compared three methods of classifying short stature: unadjusted height percentile <10th, Himes adjusted height percentile <10th, and unadjusted height below the CFF target height lower bound.

PATIENTS AND METHODS

Data from 3306 children with parental heights documented in the 1986-2005 CFF Patient Registry were analyzed.

RESULTS

Mean height percentile of CF children (33rd) was lower than their parents' (mothers' 53rd, fathers' 57th), and 80% of CF children were below the average of their parental height percentiles. In children with short parents, Himes adjusted height percentile was significantly higher than unadjusted height percentile (27th vs. 8th), whereas the opposite was found in children with tall parents (Himes adjusted at 18th vs. unadjusted at 49th). Consequently, the prevalence of short stature decreased from 52% to 22% in children with short parents and increased from 8% to 34% in children with tall parents after Himes adjustment. In children with discrepant classification on short stature before and after Himes adjustment, percent predicted forced expiratory volume in one second was negatively associated with unadjusted height percentile but positively associated with Himes adjusted height percentile. In children with short parents, the CFF method underestimated the prevalence of short stature (9%) compared to the Himes method (22%).

CONCLUSION

Without adjustment of genetic potential, the prevalence of short stature is underestimated and the association between height and lung function is biased.

摘要

目的

2002 年囊性纤维化基金会（CFF）实践指南建议在评估 CF 患儿的身高状况时，考虑遗传潜力进行调整。然而，目前缺乏支持这一建议的数据。我们比较了三种矮小症分类方法：未经调整的身高百分位<第 10 位、Himes 调整后的身高百分位<第 10 位和未经调整的身高低于 CFF 目标身高下限。

患者和方法

分析了 1986-2005 年 CFF 患者登记处记录有父母身高数据的 3306 名 CF 患儿的数据。

结果

CF 患儿的平均身高百分位（第 33 位）低于其父母（母亲第 53 位，父亲第 57 位），80%的 CF 患儿的身高低于其父母身高百分位的平均值。在父母矮小的患儿中，Himes 调整后的身高百分位明显高于未经调整的身高百分位（第 27 位与第 8 位），而在父母高大的患儿中则相反（Himes 调整后第 18 位与未经调整后第 49 位）。因此，在父母矮小的患儿中，Himes 调整后矮小症的患病率从 52%降至 22%，而在父母高大的患儿中，Himes 调整后矮小症的患病率从 8%增至 34%。在 Himes 调整前后矮小症分类不一致的患儿中，预计 1 秒用力呼气量与未经调整的身高百分位呈负相关，而与 Himes 调整后的身高百分位呈正相关。在父母矮小的患儿中，CFF 方法低估了矮小症的患病率（9%），而 Himes 方法则高估了矮小症的患病率（22%）。