摘要
目的了解儿童Ⅰ型糖原贮积病(Ⅰ型GSD)的消化道特征, 为临床多学科联合管理提供依据。方法 2020年6月至12月收集经基因检测确诊为Ⅰ型GSD, 年龄为0~18岁临床数据完整的来自全国各个省市, 包括北京、上海、广东、广西、湖南、四川、云南、贵州、河南、河北、浙江、江苏、陕西、安徽、黑龙江的儿童患者。采用横断面问卷调查方式。结果总计回收52份问卷, 符合纳入标准并有完整资料43例, 其中Ⅰa型9例, Ⅰb型34例;男30例(69.8%), 女13例(30.2%);年龄为1~18岁;家中兄弟姐妹同样确诊为Ⅰ型GSD 7例(16.3%), 均为Ⅰb型。消化道表现为反复腹泻26例(60.5%), 肛周病变(红斑、溃疡、脓肿)25例(58.1%), 腹痛/腹胀24例(55.8%), 恶心/呕吐22例(51.1%), 黏液便/血便14例(32.6%);至少2个以上消化道症状者38例(88.0%);反复口腔炎及口腔溃疡者33例(76.7%)。血常规白细胞总数<4.0×109/L者24例(55.8%), 中性粒细胞绝对值<1.5×109/L者19例(44.2%), 其中<0.5×109/L 10例(23.3%), 白细胞总数及中性粒细胞绝对值降低者均为Ⅰb型GSD患儿。血小板(PLT)>300×109/L 30例(69.8%)。18例Ⅰb型GSD患儿行胃肠镜检查, 诊断GSD相关性肠病16例。饮食添加生玉米淀粉39例(90.7%);麦芽糊精3例(6.9%);特殊医学配方19例(44.2%)。Ⅰb型GSD患儿因粒细胞低下及功能障碍需要反复应用抗生素20例, 应用粒细胞集落刺激因子(G-CSF)15例, 其中11例诊断为GSD相关性肠病。结论儿童Ⅰ型GSD的消化道症状常见, 尤以Ⅰb型GSD显著, 此型患儿GSD相关性肠病发生率高, 应用G-CSF不能避免肠病的发生, 其发病机制有待进一步研究。饮食疗法是Ⅰ型GSD的一线治疗, 多学科联合管理, 有助于减少患儿的并发症, 提高患儿的生活质量。
Objective To investigate the gastrointestinal characteristics of children with glycogen storage disease(GSD)typeⅠ.Methods From June to December 2020,clinical data of children aged 0-18 years with GSD typeⅠdiagnosed by genetic testing from all provinces and cities in China,including Beijing,Shanghai,Guangdong,Guangxi,Hunan,Sichuan,Yunnan,Guizhou,Henan,Hebei,Zhejiang,Jiangsu,Shaanxi,Anhui and Heilongjiang,were collected.A cross-sectional questionnaire survey was used for data analysis.Results A total of 52 questionnaires were obtained,and 43 eligible patients aged 1-18 years were recruited,involving 30 males(69.8%)and 13 females(30.2%).Among them,9 patients were GSD typeⅠa and 34 patients were typeⅠb.Seven patients(16.3%)had siblings who were also diagnosed as GSD typeⅠb.The gastrointestinal manifestations included recurrent diarrhea in 26 patients(60.5%),perianal lesions(erythema,ulcer,abscess)in 25 patients(58.1%),abdominal pain/distension in 24 patients(55.8%),nausea/vomiting in 22 patients(51.1%),mucus/bloody stool in 14 patients(32.6%).Thirty-three patients(76.7%)had recurrent stomatitis and oral ulcer,and 38 patients(88.0%)had at least two gastrointestinal symptoms.White blood cell(WBC)count was<4.0×109/L in 24 patients(55.8%),and absolute neutrophils count was<1.5×109/L in 19 patients(44.2%),which was<0.5×109/L in 10 patients(23.3%).WBC count and absolute neutrophils count both decreased in children with GSD typeⅠb.Platelets were>300×109/L in 30 patients(69.8%).Eighteen patients with GSD typeⅠb underwent gastroscopy and colonoscopy,and 16 patients were diagnosed with GSD-related inflammatory bowel disease.Thirty-nine patients(90.7%)were fed with raw corn starch,3 patients(6.9%)with maltodextrin and 19 patients(44.2%)with special enteral formula.Twenty patients with typeⅠb GSD needed repeated antibiotic treatment due to neutropenia and neutrophil dysfunction.Fifteen patients were treated with granulocyte colony-stimulating factor(G-CSF).Among them,11 patients were diagnosed as GSD-related bowel disease.Conclusions Children with GSD typeⅠcommonly have gastrointestinal symptoms,especially those with GSD typeⅠb.The incidence of GSD-related inflammatory bowel disease is high in those children.G-CSF treatment cannot prevent the development of GSD-associated inflammatory bowel disease and its pathogenesis needs further research.Diet therapy is the first-line treatment of GSD typeⅠ.Multidisciplinary management is helpful to reduce the complications and improve the quality of life in children with GSD typeⅠ.
作者
叶丽萍
陈涣
李慧雯
梁翠丽
陈佩瑜
耿岚岚
龚四堂
杨敏
Ye Liping;Chen Huan;Li Huiwen;Liang Cuili;Chen Peiyu;Geng Lanlan;Gong Sitang;Yang Min(Department of Gastroenterology,Guangzhou Women and Children′s Medical Center,Guangzhou 510120,China;Department of Endocrinology,Guangzhou Women and Children′s Medical Center,Guangzhou 510120,China;Department of Pediatrics,Guangdong Provincial People′s Hospital,Guangdong Academy of Medical Sciences,Guangzhou 510080,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2022年第11期847-850,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
广州市卫生健康科技一般引导项目(20211A010028)。
关键词
Ⅰ型糖原贮积病
糖原贮积病相关性肠病
儿童
Glycogen storage disease typeⅠ
Glycogen storage disease associated bowel disease
Child