摘要
目的分析并发杜氏肌营养不良症(DMD)的复合型甘油激酶缺乏症(CGKD)的诊治要点.方法报道1例并发DMD的CGKD病例,并以"复合型甘油激酶缺乏症"和"杜氏肌营养不良"为关键词(包括中英文)在PubMed和中国期刊全文数据库(CNKI)进行检索,收集并分析相关患者的资料.结果该例患儿以双下肢乏力为主要表现,伴皮肤色素沉着,尿液有机酸综合分析示甘油显著升高,促肾上腺皮质激素升高而血皮质醇降低,经基因检测明确DMD及CGKD的诊断,予氢化可的松口服激素替代治疗与其他对症治疗,患儿病情好转且稳定.检索文献共收集到20篇相关的病例报道,小年龄CGKD伴DMD患儿的肌营养不良相关症状不明显,多表现为无原因肌酶升高,随着年龄增长患儿逐渐出现肌肉乏力症状,预后差.CGKD目前尚无有效根治方法,以氢化可的松替代治疗、低脂饮食以及康复治疗等对症治疗为主.结论伴发DMD的CGKD患儿预后差,因此产前诊断更为重要,临床医师需提高认识,及时行基因检测以提高临床确诊率.
Objective To analyze the diagnosis and treatment of complex glycerol kinase deficiency(CGKD)complicated with Duchenne muscular dystrophy(DMD).Methods One case of CGKD complicated with DMD was reported.Literature review was conducted from PubMed and CNKI by using the keywords of‘complex glycerol kinase deficiency’and‘Duchenne muscular dystrophy’both in Chinese and English.The data of the searched patients were collected and analyzed.Results The main manifestation of the patient was hypodynamia of bilateral lower limbs,accompanied by skin pigmentation.Comprehensive analysis of urine organic acid showed that the glycerol level was significantly increased,adrenocorticotropic hormone level was increased whereas blood cortisol level was decreased.The diagnosis of CGKD complicated with DMD was confirmed by gene assay.The patient’s condition was improved and stable after oral hydrocortisone hormone replacement therapy and other symptomatic treatments.A total of 20 case reports were retrieved.The muscular dystrophy-related symptoms were not obvious in CGKD complicated with DMD children of young age.A majority of them presented with increased kinase level with unknown causes,and gradually presented with muscular weakness symptoms over age.The clinical efficacy in the treatment of CGKD complicated with DMD is worse.At present,there is no effective radical treatment for CGKD.Hydrocortisone replacement therapy,low-fat diet and rehabilitation therapy are adopted as the main symptomatic treatments.Conclusions The clinical prognosis of CGKD children complicated with DMD is poor.Therefore,prenatal diagnosis is of more significance.Clinicians should improve their understanding of CGKD complicated with DMD and deliver gene detection timely to enhance the clinical diagnosis rate.
作者
刘靖薇
江文文
杨京华
林晓红
Liu Jingwei;Jiang Wenwen;Yang Jinghua;Lin Xiaohong(The Second Clinical Medical College,Guangzhou University of Chinese Medicine,Guangzhou 510405,China)
出处
《新医学》
2020年第4期284-288,共5页
Journal of New Medicine
基金
国家中医药管理局项目罗笑容全国名老中医药传承工作室(14GG2X02)。
