摘要
目的探讨1例先天性全身型脂肪营养不良2型(CGL2)患儿的临床及基因变异特点,为临床和基因诊断该疾病提供依据。方法收集患儿的临床资料,应用二代基因测序技术对患儿及其父母进行全外显子组分析,并用Sanger测序验证候选变异。结果患儿,女,23天龄,就诊时主要表现为高血糖、高三酰甘油、高胰岛素血症,腹部CT提示肝肿大并患有脂肪肝。2月龄后出现皮下脂肪消失、四肢多毛。全外显子组测序发现患儿BSCL2基因存在母源c.565G>T(p.E189*)及父源c.793C>T(p.R265*)复合杂合变异,二者均为无义突变。临床结合遗传信息诊断患者为先天性全身型脂肪营养不良2型。给予苯扎贝特、二甲双胍、葡醛内酯片等治疗后,皮下脂肪有所恢复,多毛好转,血糖、血脂、胰岛素水平能够维持在正常水平。结论患儿疑似新生儿期糖尿病的症状,部分可能是由先天性全身型脂肪营养不良2型引起,应尽早行全外显子组基因检测,有助于及早明确诊断,通过干预治疗以改善预后。
Objective To investigate the clinical and genetic characteristics of a patient with type 2 congenital generalized lipodystrophy(CGL2),thereby providing experiences on further diagnosis and treatment.Methods Clinical data of the selected patient was collected.Next-generation sequencing was conducted to analyze the whole exome of the child and her parents.Sanger sequencing was performed to verify the candidate variants.Results A 23-day-old girl presented with hyperglycemia,hypertriglyceride,hyperinsulinemia,hepatomegaly and fatty liver.Subcutaneous fat disappeared but limbs became hairy after 2 months of age.Whole-exome sequencing identified a pair of compound-heterozygous BSCL2 mutations,maternal c.565G>T(p.E189*)and paternal c.793C>T(p.R265*),in the patient.Both mutations were nonsense.Based on the clinical and genetic information,the patient was diagnosed with CGL2.After administrating bezafibrate,metformin and glucuronolactone tablets,her subcutaneous fat restored;her hairiness improved;and her blood glucose,blood lipid and insulin was maintained at normal levels.Conclusion Neonatal diabetes-like symptoms in some patients are possibly caused by CGL2.Whole-exome sequencing is recommended,which is helpful for the early diagnosis and properly therapeutic intervention,thus improving the prognosis.
作者
聂云亚
陈晓红
NIE Yunya;CHEN Xiaohong(Jianghan University,Wuhan 430056,China;Department of Genetics,Metabolism and Endocrinology,Wuhan Children’s Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430015,China)
出处
《标记免疫分析与临床》
CAS
2022年第3期365-369,共5页
Labeled Immunoassays and Clinical Medicine
基金
武汉市卫健委面上重点项目(编号:WX20B13)。
