探讨BSCL2基因突变导致先天性全身脂肪营养不良(CGL)患儿的临床特征、突变类型及诊治方案，并进行文献复习。

选择2019年6月8日，于华中科技大学同济医学院附属武汉儿童医院确诊的1例BSCL2基因突变导致CGL患儿为研究对象。采取回顾性研究方法，对其临床病例资料，包括临床表现、实验室检查结果、基因检测及治疗与随访结果等进行分析。以"先天性全身脂肪营养不良""儿童""congenital generalized lipodystrophy""CGL""BSCL2""CGL2""child"为关键词，在万方数据知识服务平台、中国知网及PubMed数据库中，进行BSCL2基因突变导致CGL患儿相关文献检索。检索时间设定为上述数据库建库至2021年3月。总结BSCL2基因突变所致CGL患儿性别、确诊时年龄、临床特征、生化检查结果、基因突变特点等。本研究遵循的程序符合华中科技大学同济医学院附属武汉儿童医院伦理委员会规定，并获得该伦理委员会批准(审批文号：武汉妇儿中心2016045)。

①本例患儿临床资料如下。病史采集：女性，生后23 d，因"摄入量少，吸吮力差伴少动3 d，血糖和血脂升高"入院。入院查体：肝大(右肋下平脐)。实验室检查结果：丙氨酸转氨酶(ALT)为158 U/L，三酰甘油为19.71 mmol/L，空腹血糖浓度为11.49 mmol/L，胰岛素水平为121.05 μIU/mL。基因检测结果：BSCL2基因发生c.565(exon5)G>T(p.Glu 189stop，210)、c.793(exon7)C>T(p.Arg 265stop，134)复合杂合突变，分别遗传自母亲与父亲。治疗结果：采取谷胱甘肽护肝、苯扎贝特降脂治疗，采用胰岛素、二甲双胍治疗高血糖，并采取深度水解蛋白配方奶喂养后，患儿1.5岁时，复查ALT为32 U/L，血糖为5.01 mmol/L，三酰甘油为1.27 mmol/L，均恢复正常水平，心脏彩色多普勒超声检查结果正常，生长、发育正常。②文献复习结果：根据本研究设定的检索策略，共计检索到23篇BSCL2基因突变导致CGL患儿相关文献，纳入研究CGL 2型患儿为96例，均存在皮下脂肪菲薄或消失，伴肝大、黑棘皮症、智力障碍及心肌病者，分别为90.2%(55/61)、66.7%(52/78)、55.4%(36/65)及28.1%(16/57)。血清学检查结果中，ALT升高者占81.5%(44/54)，三酰甘油升高者占90.6%(87/96)，空腹血糖升高者占55.6%(50/90)，胰岛素升高者占71.1%(32/45)。该病患儿常见基因突变类型为纯合突变(81.3%，78/96)，少部分为复合杂合突变(18.7%，18/96)。

BSCL2基因突变导致CGL患儿具有典型临床表现，目前对其尚无特效治疗方案。对于疑似该病患儿，应尽早进行基因检测确诊，有助于对患儿早期采取个体化评估与治疗，早期饮食控制，可延缓疾病进展，改善患儿预后。

To explore clinical features, mutation types, diagnosis and treatment plans of children with congenital systemic lipodystrophy (CGL) caused by BSCL2 gene mutation, and to review related literature.

A child with CGL caused by BSCL2 gene mutation diagnosed in Wuhan Children′s Hospital, Tongji Medical College of Huazhong University of Science & Technology on June 8, 2019 was selected as research subject. Retrospectively analyze the clinical case data of this child, including clinical manifestations, laboratory test results, genetic testing, treatment and follow-up results, etc.. With " congenital generalized lipodystrophy" " child" " CGL" " BSCL2" " CGL2" as keywords in Chinese and English, literature related to children with CGL caused by BSCL2 gene mutation was retrieved in Wanfang Data Knowledge Service Platform, CNKI, and PubMed Database. Search period was set from the establishment of above-mentioned database to March 2021. The genders, age of onset, main clinical characteristics, biochemical results, gene mutation characteristics of CGL children caused by BSCL2 gene mutation were summarized. The procedures followed in this study were approved by the Ethics Committee of Wuhan Chlidren′s Hospital, Tongji Medical College, Huazhong University of Science & Technology (approval No. 2016045).

①Clinical data of the child were as follows. Medical history: a female newborn, 23 days after birth. She was admitted to the hospital due to " low intake, poor suck with 3 days of inactivity, elevated blood sugar and blood lipids" . Physical examination at admission: hepatomegaly. Laboratory examination results: alanine transarninase (ALT) was 158 U/L, triglyceride was 19.71 mmol/L, blood-fasting glucose concentration was 11.49 mmol/L, and insulin level was 121.05 μIU/mL, all of which were significantly increased. Genetic test results showed that the child had compound heterozygous nonsense mutations c. 565(exon5)G>T(p.Glu 189stop, 210) and c. 793(exon7)C>T(p.Arg 265stop, 134) in BSCL2 gene which inherited from her mother and father respectively. Treatment results: glutathione was used to protect her liver, bezafibrate was used to lower lipids, insulin and metformin were used to treat hyperglycemia, and she was feed with deep protein hydrolysate formula milk. When the child was 1.5 years old, her ALT was 32 U/L, blood sugar was 5.01 mmol/L, and triglyceride was 1.27 mmol/L, all of which were normal. Heart color Doppler ultrasound examination results were normal, and growth and development were normal too. ②Literature review results: a total of 23 pieces of literature related with CGL children caused by mutation of BSCL2 gene were reviewed, including 96 children with CGL caused by mutation of BSCL2 gene. All the 96 children had thinning or disappearance of subcutaneous fat, and the incidence of hepatomegaly was 90.2% (55/61), acanthosis nigricans was 66.7% (52/78), mental retardation was 55.4% (36/65), and cardiomyopathy was 28.1% (16/57). Serological examination results showed that 81.5% (44/54) children had elevated ALT, 90.6% (87/96) had elevated triglycerides, 55.6% (50/90) had elevated blood sugar, and 71.1% (32/45) had elevated insulin. The common gene mutation type in children with this disease was homozygous mutation (81.3%, 78/96), and 18.7% (18/96) was heterozygous mutations.

Clinical manifestations of children with CGL caused by BSCL2 gene mutation are typical, and there is no specific treatment plan for children with this disease. Therefore, genetic testing should be performed as soon as possible to confirm the diagnosis of suspected children, which will be helpful for early individualized evaluation and treatment, early diet control, thus delaying disease progression, and improving the prognosis.