背侧胰腺发育不全、MODY5一例临床及HNF-1β基因变异分析  

Clinical and HNF-1βGene Variant Analysis in One Case with Agenesis of Dorsal Pancreas and MODY5

作　　者：吴雪[1] 杨威[1] 曹冰燕[2] 陈永兴 卫海燕[1] WU Xue;YANG Wei;CAO Bing-yan;CHEN Yong-xing;WEI Hai-yan(Department of Endocrinology and Inborn Irror of Metabolism,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou 450053,Henan Province,China;Department of Endocrinology and Inborn Irror of Metabolism,Beijing Children's Hospital Affiliated to Capital Medical University,Children's National Medical Center,Beijing 100045,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院内分泌遗传代谢科,河南郑州市450053 [2]首都医科大学附属北京儿童医院、国家儿童医学中心内分泌遗传代谢科,北京100045

出　　处：《罕少疾病杂志》2023年第5期1-3,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的探讨一例背侧胰腺发育不全、青少年起病的成人型糖尿病(MODY)5型患儿的临床表现及遗传学特点,以期临床医生早期识别。方法回顾性分析一例MODY5患儿的临床表现、辅助检查,通过高通量测序检测该患儿的家系基因。结果11岁,女性儿童,表现为多饮,体型偏胖,血糖、糖化血红蛋白明显升高,腹部MRI提示背侧胰腺发育不良,经胰岛素泵持续皮下输注胰岛素强化治疗,将血糖控制平稳后,改为口服二甲双胍治疗。高通量测序提示HNF-1β基因存在杂合变异c.748T>C(p.Y250H),为未报道过的新变异。结论HNF-1β基因变异可导致MODY5、胰腺发育不良、肾囊肿等多种表现,全面认识该病有助于在临床中及时识别,避免漏诊,判断预后,新变异位点扩展了HNF-1β基因变异谱。Objective To explore the clinical manifestations and genetic characteristics of a case with agenesis of dorsal pancreas and type 5 maturity onset diabetes of the young(MODY5),in order to early identified by clinicians.Methods The clinical findings,auxiliary examination and genetic testing of a child with MODY5 were analyzed retrospectively,and their families were genetically tested by high-throughput sequencing.Results An 11-year-old female child with polydipsia,overweight,significantly increased glycemic and HbA1c,abdominal MRI indicated agenesis of dorsal pancreas,after intensive insulin pump treatment and stable glycemic control,treated with oral metformin.High-throughput sequencing suggests the presence of a heterozygous variant c.748T>C(p.Y250H)in the HNF-1βgene,which is an unreported novel variant.Conclusion HNF-1βgene variation can lead to various manifestations such as MODY5,pancreatic dysplasia,and kidney cyst.A comprehensive understanding of the disease is helpful to make timely identification in clinical practice,avoid missed diagnosis,and judge the prognosis.The novel variant locus extends the HNF-1βgene variant spectrum.

关 键 词：HNF-1β基因 背侧胰腺发育不全 MODY5 

分 类 号：R587.1[医药卫生—内分泌]