de Laat P, Zweers H E E, Knuijt S, Smeitink J A M, Wanten G J A, Janssen M C H
Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Departments of Gastroenterology and Hepatology, Rehabilitation÷Speech Pathology, Internal Medicine, Radboudumc, Nijmegen, the Netherlands, *corresponding author: tel.: +31(0)24-3619190, email:
Neth J Med. 2015 Jan;73(1):30-6.
Previous research has shown that dysphagia and gastrointestinal problems occur frequently in carriers of the m.3243A>G mutation; however, the exact frequency and severity have not been determined. We hypothesise that adult carriers have an increased risk for malnutrition.
In this observational study we evaluated the presence of gastrointestinal problems and dysphagia in 92 carriers of the m.3243A>G mutation. The severity of the general disease involvement was classified using the Newcastle Mitochondrial Disease Adult Scale (NMDAS). Gastrointestinal involvement, dysphagia and the risk for malnutrition were scored using the Gastrointestinal Symptoms Questionnaire and the Malnutrition Universal Screening Tool. Gastrointestinal symptoms and anthropometrics were compared with healthy controls.
Our results show that the height, weight and body mass index (BMI) of these carriers were lower than the national average (p < 0.05). Seventy-nine carriers (86%) suffered from at least one gastrointestinal symptom, mainly flatulence or hard stools. Both frequency and severity of symptoms were significantly increased compared with reference data of healthy Dutch adults. Of the carriers, 45% reported (mostly mild) dysphagia. Solid foods cause more problems than liquids. A negative correlation between BMI and heteroplasmy levels in urinary epithelial cells (UEC) was present (Spearman correlation coefficient = - 0.319, p = 0.003).
Dysphagia and gastrointestinal problems, especially constipation, are common symptoms in the total m.3243A>G carriers cohort and are not related to heteroplasmy levels in UEC or disease severity. The severity of gastrointestinal problems as well as overall disease severity is associated with an increased risk for malnutrition.
先前的研究表明，m.3243A>G突变携带者经常出现吞咽困难和胃肠道问题；然而，确切的发生率和严重程度尚未确定。我们推测成年携带者发生营养不良的风险增加。
在这项观察性研究中，我们评估了92名m.3243A>G突变携带者的胃肠道问题和吞咽困难情况。使用纽卡斯尔线粒体疾病成人量表（NMDAS）对一般疾病受累的严重程度进行分类。使用胃肠道症状问卷和营养不良通用筛查工具对胃肠道受累、吞咽困难和营养不良风险进行评分。将胃肠道症状和人体测量数据与健康对照进行比较。
我们的结果表明，这些携带者的身高、体重和体重指数（BMI）低于全国平均水平（p<0.05）。79名携带者（86%）至少有1种胃肠道症状，主要是肠胃胀气或便秘。与荷兰健康成年人的参考数据相比，症状的发生率和严重程度均显著增加。在携带者中，45%报告有（大多为轻度）吞咽困难。固体食物比液体食物引起的问题更多。尿上皮细胞（UEC）中的BMI与异质性水平之间存在负相关（斯皮尔曼相关系数=-0.319，p=0.003）。
吞咽困难和胃肠道问题，尤其是便秘，是整个m.3243A>G携带者队列中的常见症状，与UEC中的异质性水平或疾病严重程度无关。胃肠道问题的严重程度以及整体疾病严重程度与营养不良风险增加相关。
