摘要
目的总结分析儿童重症监护病房(PICU)收治重症糖原累积病Ⅱ型(GSDⅡ)患儿的临床特点、治疗及预后情况,以期提高儿科医生对儿童重症GSDⅡ的认识。方法纳入2010年1月至2021年12月首都医科大学附属北京儿童医院PICU收治的GSDⅡ患儿。通过医院电子病历系统收集患儿相关病例资料,并在患儿出院后定期电话随访1年以上。结果共纳入8例GSDⅡ患儿,中位年龄30.5个月。婴儿型4例,起病中位年龄5.5个月;晚发型4例,起病中位年龄36.0个月。8例患儿均需持续使用无创/有创呼吸支持,3例婴儿型患儿起病1个月内需要呼吸支持,3例晚发型在起病1年内需要呼吸支持。共有6例患儿病程中出现过心跳呼吸骤停。1例患儿在院期间规律应用酶替代治疗,但病情无明显好转。3例医嘱离院的患儿中,1例患儿出院后需继续应用无创呼吸支持,2例患儿需持续有创呼吸支持。4例死亡患儿中,1例为院内死亡,3例在出院后1年内死亡。8例患儿共检出14种基因变异,其中3种为新发现的基因突变。结论PICU收治的GSDⅡ患儿呼吸功能障碍严重,疾病早期即需持续呼吸支持;感染和呼吸肌无力所致心跳呼吸骤停发生率高,需密切监测心肺功能,积极预防和治疗感染性疾病。酶替代治疗能否使重症GSDⅡ患儿获益及新发现的基因突变是否与疾病严重程度相关有待进一步评估。
Objective To summarize and analyze the clinical characteristics,treatment and prognosis of glycogen storage disease typeⅡ(GSDⅡ)patients admitted to pediatric intensive care units(PICU),and to improve the pediatricians'understanding of children with severe GSDⅡ.Methods Children with GSDⅡadmitted to PICU at Beijing Children's Hospital of Capital Medical University between January 2010 and December 2021 were included.Patient's data were collected through the electronic medical record system.After the patient was discharged,telephone follow-ups were conducted regularly for over a year.Results A total of eight patients with a median age of 30.5 months were included.There were four patients with infantile GSDⅡ,whose median age of onset was 5.5 months.There were four patients with late-onset GSDⅡ,whose median age of onset was 36.0 months.Eight patients required continuous noninvasive/invasive respiratory support.Three patients with infantile GSDⅡrequired respiratory support within one month of onset,and three patients with late onset GSDⅡrequired respiratory support within one year of onset.A total of six patients had cardiac arrest during the course of the disease.One patient was regularly treated with enzyme replacement therapy during hospitalization but his condition did not improve significantly.Three patients were discharged following medical advice,including one patient continuing noninvasive respiratory support after discharge,and two patients requiring onging invasive respiratory support.A total of four children died,including one being an in-hospital death,and three occuring within one year after hospital discharge.A total of 14 genotypes were detected in eight patients,of which three were newly discovered gene mutations.Conclusion The children with GSDⅡadmitted to PICU have severe respiratory dysfunction and need continuous respiratory support during the early stage of the disease.The incidence of cardiopulmonary arrest caused by infection and respiratory muscle weakness is high.It is recomme
作者
王盼
刘颖超
李晓侨
钱素云
Wang Pan;Liu Yingchao;Li Xiaoqiao;Qian Suyun(Pediatric Intensive Care Unit,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;Department of Endocrinology,Genetics and Metabolism,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)
出处
《中国小儿急救医学》
CAS
2024年第6期437-442,共6页
Chinese Pediatric Emergency Medicine
基金
北京市重大疫情防治重点专科卓越类项目(京卫医[2021]135号)。
关键词
糖原累积病Ⅱ型
儿童
重症
预后
临床特征
Glycogen storage disease typeⅡ
Children
Critical illnesses
Prognosis
Clinical features
