NEB基因杂合缺失和突变的2型杆状体肌病致成人睡眠低通气综合征1例  

A Case of Sleep Hypopnea Syndrome in Adults Caused by Type 2 Rod-Shaped Myopathy with Heterozygosity Deletion and Mutation of NEB Gene

作　　者：黄代金 吕云辉[1] 叶靖 李玉梅 HUANG Daijin;LYU Yunhui;YE Jing;LI Yumei(Department of Sleep Medicine,the First People′s Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology,Kunming 650500,China;Department of Endocrinology,Kunming Children′s Hospital,Kunming 650000,China)

机构地区：[1]云南省第一人民医院/昆明理工大学附属医院睡眠医学科,昆明650500 [2]云南省昆明市儿童医院内分泌科,昆明650000

出　　处：《世界睡眠医学杂志》2023年第5期1186-1188,共3页World Journal of Sleep Medicine

摘　　要：目的:探讨2型杆状体肌病(NM)的临床特征、无创通气的效果和远程管理的价值。方法:回顾分析1例中年女性2型NM的诊疗经过、无创通气治疗前后资料、导致呼吸衰竭的诱因和远程管理的疗效,并通过关键词“杆状体肌病”检索了中国学术期刊数据库(CSPD)、国家知识基础设施数据库(CNKI)等数据库,分析该病的临床特征及影响因素,分享互联网加医疗管理对提高依从性和疗效所发挥的价值。结果:46岁女性患者,身高150 cm,体质量45 kg,因呼吸困难伴双下肢无力入院,住院期间因为入睡困难口服唑吡坦出现高碳酸血症而昏迷,予气管插管、机械通气等治疗后病情好转拔管撤机转为家庭无创通气治疗。结论:本例2型NM累及呼吸肌出现呼吸困难多次昏迷,经过无创通气治疗,互联网加医疗远程管理2年未出现昏迷,低氧血症改善,生命质量提高,治疗有效。Objective:To investigate the clinical characteristics,the effect of non-invasive ventilation and the value of remote management of Nemaline Myopathy(NM)type 2.Methods:The diagnosis and treatment process of type 2 NM in a middle-aged female,the data before and after non-invasive ventilation treatment,the causes of respiratory failure and the curative effect of remote management were reviewed and analyzed.Wanfang,CNKI and other databases were retrieved by keyword rod-body myopathy to analyze the clinical characteristics and influencing factors of the disease,and to share the value of Internet plus medical management in improving compliance and curative effect.Results:A 46-year-old female patient,150 cm in height and 45 kg in body weight,was admitted to hospital due to dyspnea accompanied by weakness in both lower limbs.During hospitalization,hypercapnia occurred due to difficulty in sleeping by oral zolpidem.After endotracheal intubation,mechanical ventilation and other treatments,the condition improved and transferred to non-invasive ventilation to home.Conclusion:The case of type 2 NM involved respiratory muscle suffered dyspnea and coma for several times.After non-invasive ventilation treatment,Internet plus medical remote management for 2 years,no coma occurred,hypoxemia was improved,quality of life was improved,and the treatment was effective.

关 键 词：杆状体肌病 睡眠低通气综合征 NEB基因 持续正压通气 

分 类 号：R685.9[医药卫生—骨科学] R338.63[医药卫生—外科学]