家族性自主神经机能异常症患者的身高、体重和体重指数。

Height, weight, and body mass index in patients with familial dysautonomia.

机构信息

Department of Neurology, Dysautonomia Center, New York University Grossman School of Medicine, New York, New York, United States of America.

出版信息

PLoS One. 2023 Nov 9;18(11):e0293800. doi: 10.1371/journal.pone.0293800. eCollection 2023.

DOI:10.1371/journal.pone.0293800

PMID:37943786

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10635437/

Abstract

BACKGROUND

Children with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the disease-causing homozygous ELP-1 mutations. Here, we created growth curves for weight, height, and body mass index (BMI) in male and female children with FD to monitor the nutritional status of patients with FD.

METHODS

We used the New York University (NYU) FD Registry which includes data from 680 individuals with FD who were followed longitudinally since birth. We generated sex-specific FD growth charts for three age ranges (birth to 36 months, 2 to 20 years, and 2 to 40 years) and compared them to the general population. We generated Kaplan-Meier curves to test the hypothesis that FD patients with low BMI had shorter survival than the rest of the cohort.

RESULTS

Growth charts generated from 591 individuals with FD show that these patients grow more slowly, reach less height, and gain less weight than the general population. The impact of FD on height was more pronounced in girls than in boys. However, both groups showed markedly low weights, which resulted in low BMI. Low weight, but not height, is already evident at birth. In a subpopulation of FD patients, we found that treatment with growth hormone or spinal fusion surgery helped patients achieve the expected growth characteristic of FD patients, but these treatments did not lead FD patients to achieve the growth pattern of the general population. Contrary to our hypothesis, low BMI had no impact on patient survival.

CONCLUSIONS

Pediatric patients with FD have lower height, weight, and BMI compared to the general pediatric population, but this does not appear to affect survival. Growth curves specific to the FD population are an important tool to monitor growth and nutritional status in pediatric patients with FD when the general population growth curves are of limited use.

摘要

背景

家族性自主神经机能异常（FD）患儿的体型比一般人群小，生长速度也较慢。目前尚不清楚这种异常生长是由于 FD 患儿所患的合并症所致，还是致病的 ELP-1 纯合突变的直接影响。在这里，我们为男性和女性 FD 患儿创建了体重、身高和体重指数（BMI）的生长曲线，以监测 FD 患儿的营养状况。

方法

我们使用了纽约大学（NYU）FD 注册中心的数据，该注册中心包括自出生以来接受纵向随访的 680 名 FD 患者的数据。我们为三个年龄范围（出生至 36 个月、2 至 20 岁和 2 至 40 岁）生成了特定于性别的 FD 生长图表，并将其与一般人群进行了比较。我们生成了 Kaplan-Meier 曲线来检验 FD 患者中 BMI 较低的患者比其余队列患者存活时间更短的假设。

结果

来自 591 名 FD 患者的生长图表显示，这些患者的生长速度较慢，身高较矮，体重增加较少。FD 对女孩身高的影响比男孩更为明显。然而，两组患者的体重都明显较低，导致 BMI 较低。低体重，而不是身高，在出生时就已经很明显。在 FD 患者的一个亚群中，我们发现生长激素治疗或脊柱融合手术有助于患者达到 FD 患者预期的生长特征，但这些治疗并不能使 FD 患者达到一般人群的生长模式。与我们的假设相反，BMI 较低并不影响患者的存活。