测量单基因和综合征性肥胖患者的过度进食。

Measuring hyperphagia in patients with monogenic and syndromic obesity.

机构信息

Center for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany.

出版信息

Appetite. 2022 Nov 1;178:106161. doi: 10.1016/j.appet.2022.106161. Epub 2022 Jul 6.

DOI:10.1016/j.appet.2022.106161

PMID:35809703

Abstract

BACKGROUND

Hyperphagia is a key symptom in patients with monogenic obesity, but the assessment is challenging.

OBJECTIVES

We aimed to investigate the applicability of Dykens' Hyperphagia Questionnaire in patients with monogenic and syndromic obesity to assess the quality and severity of hyperphagia, and to compare our results with those reported in the literature.

METHODS

Patients with biallelic leptin receptor variants (LEPR, n = 8), heterozygous melanocortin-4 receptor variants (MC4R, n = 7) and 16p11.2 deletions, leading to a deletion of the Src homology 2B adaptor protein gene (n = 5) were included in the study. Hyperphagia was assessed by the parent-based, 13-item hyperphagia questionnaire from Dykens et al. (2007). A literature research was performed to identify published hyperphagia scores assessed by Dykens' Hyperphagia Questionnaire.

RESULTS

The total hyperphagia scores were similar in patients with biallelic LEPR and monoallelic MC4R variants (32.0 ± 9.3 vs. 31.4 ± 5.4), but significantly lower in patients with 16p11.2 deletions (21.4 ± 5.5, p < 0.05). Compared to patients with syndromic obesity (27.6 ± 9.0) from the literature, patients with LEPR and MC4R variants had higher total hyperphagia scores. Total hyperphagia scores in patients with 16p11.2 deletions were lower than for patients with other syndromic obesity forms (21.4 ± 5.5 vs. 24.6 ± 8.1), but similar to those for individuals with obesity without a genetic cause (22.9 ± 7.2).

CONCLUSIONS

Dykens' Hyperphagia Questionnaire seems to be a useful tool to assess hyperphagic behaviour in patients with monogenic and syndromic obesity.

摘要

背景

食欲过盛是单基因肥胖患者的一个关键症状，但评估具有挑战性。

目的

我们旨在研究 Dykens 食欲过盛问卷在单基因和综合征性肥胖患者中的适用性，以评估食欲过盛的程度和严重程度，并将我们的结果与文献中的结果进行比较。

方法

该研究纳入了 8 名存在双等位基因瘦素受体变异（LEPR）、7 名杂合性黑素皮质素 4 受体变异（MC4R）和 5 名 16p11.2 缺失导致 Src 同源 2B 衔接蛋白基因缺失的患者。通过 Dykens 等人（2007 年）提出的基于父母的 13 项食欲过盛问卷评估食欲过盛。进行了文献研究，以确定使用 Dykens 食欲过盛问卷评估的已发表的食欲过盛评分。

结果

双等位基因 LEPR 和单等位基因 MC4R 变异患者的总食欲过盛评分相似（32.0 ± 9.3 与 31.4 ± 5.4），但 16p11.2 缺失患者的评分明显较低（21.4 ± 5.5，p < 0.05）。与文献中的综合征性肥胖患者（27.6 ± 9.0）相比，LEPR 和 MC4R 变异患者的总食欲过盛评分更高。16p11.2 缺失患者的总食欲过盛评分低于其他综合征性肥胖患者（21.4 ± 5.5 与 24.6 ± 8.1），但与无遗传原因的肥胖个体相似（22.9 ± 7.2）。