儿童家族性部分脂肪营养不良综合征4型伴反复糖尿病酮症酸中毒1例  

Type 4 familial partial lipodystrophy combined with recurrent diabetic ketoacidosis:a case report

作　　者：张丹丹 王红英[2,3] 王晴 吴海瑛 谢蓉蓉[1] 王凤云[1] 陈秀丽[1] 吴慧荣[1] 孙辉 王晓艳[1] 宋梦佳 王莉莉 陈临琪 陈婷[1,3] Zhang Dandan;Wang Hongying;Wang Qing;Wu Haiying;Xie Rongrong;Wang Fengyun;Chen Xiuli;Wu Huirong;Sun Hui;Wang Xiaoyan;Song Mengjia;Wang Lili;Chen Linqi;Chen Ting(Department of Endocrinology,Metabolism and Genetic Disorders,Children′s Hospital of Soochow University,Suzhou 215000,China;Department of Clinical Laboratory,Children′s Hospital of Soochow University,Suzhou 215000,China;Department of Clinical Laboratory,Suzhou Wujiang District Children′s Hospital,Suzhou 215234,China)

机构地区：[1]苏州大学附属儿童医院内分泌遗传代谢科,苏州215000 [2]苏州大学附属儿童医院检验科,苏州215000 [3]苏州市吴江区儿童医院检验科,苏州215234

出　　处：《中华实用儿科临床杂志》2023年第12期937-940,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：江苏省卫生健康委科研项目(M2021082);江苏省妇幼健康科研项目(F202119);苏州姑苏卫生人才计划培养项目(GCWS2020046);苏州市科技计划项目(SS202064,SS202091);苏州市吴江区“科教兴卫”项目(WWK202020)。

摘　　要：对1例以糖尿病起病的家族性部分脂肪营养不良综合征4型(FPLD4)患儿临床特征和基因变异特征进行回顾性分析。患儿,男,13岁5个月,糖尿病病程3年余,于2021年11月10日第4次入住苏州大学附属儿童医院,糖尿病病程中反复发生糖尿病酮症酸中毒逐渐出现脂代谢并发症,基因测序结果显示先证者及其母亲携带基因PLIN1 c.1325delG(p.G442Afs*99)和SPINK1 c.194+2T>C(p.?)双基因杂合变异。PLIN1为FPLD4的致病基因,c.1325delG变异目前尚未见文献报道。结合患儿临床表现、家族史及基因检测结果,诊断为FPLD4,同时携带基因SPINK1 c.194+2T>C(p.?)变异,可能使慢性胰腺炎发生的风险增加。本病例报道丰富了FPLD4的临床特点和基因型数据,基因检测方法的应用使患儿糖尿病分型得到了精准诊断,同时需警惕双基因突变对疾病进展的影响,对制定治疗方案和疾病管理具有重要意义。To analyze the clinical features and genetic variants of a child with type 4 familial partial lipodystrophy(FPLD4)and the initial manifestation of diabetes.The male patient with the age of 13 years and 5 months,and the diabetes course was about 3 years,the patient was admitted to Children′s Hospital of Soochow University on November 10,2021(4 th hospitalization at the hospital),in the course of diabetes,the children repeatedly suffered from diabetes ketoacidosis,and lipid metabolism complications gradually emerged.The gene sequencing showed that the proband and his mother carried dual gene mutations of PLIN1 c.1325delG(p.G442Afs*99)and SPINK1 c.194+2T>C(p.?).The PLIN1 gene was the causal gene of FPLD4.The mutations of c.1325delG in the PLIN1 gene had not been previously reported.Based on the clinical phenotype,family history and genetic testing findings,the patient was diagnosed as FPLD4.In addition,the mutation of SPINK1 c.194+2T>C(p.?)might increase the risk of chronic pancreatitis.This case report enriched the clinical characteristics and genotype data of FPLD4.Gene sequencing assisted the accurate diagnosis of the type of diabetes.The effects of dual gene mutations on disease progression should be concerned,which were of great significance to develop treatment regimen and disease management.

关 键 词：家族性部分脂肪营养不良综合征4型 糖尿病酮症酸中毒 PLIN1基因 SPINK1基因 

分 类 号：R725.8[医药卫生—儿科]