【摘要】 多发性内分泌腺肿瘤1型(multiple endocrine neoplasia type 1,MEN1)是一种常染色体显性遗传的内分泌肿瘤综合征。中南大学湘雅二医院代谢内分泌科2019年1月收治1例以低血糖起病患者,临床诊断为MEN1,基因有新发框移变异(c.640-643delCAGA),该变异发生后氨基酸变短(p.v215Mfs*13),符合致病性变异。经多学科会诊,采用同时切除胰体、胰尾胰岛素瘤以及甲状旁腺切除(4个)+自体异位移植,术后患者恢复良好。个体化诊断治疗对改善MEN1型患者预后有确切意义。更多还原

【Abstract】 Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant disorder. A 44-yearold man visited second Xiangya Hospital, Central South University due to hypoglycemia. He was eventually diagnosed as MEN1. A novel homozygous frameshift for c.640-643 delCAGA(p.V215 Mfs*13) of MEN1 gene was identified in the patient. After MDT(Multiple Disciplinary Team), open bilateral exploration with total parathyroidectomy and autotransplantation as well as partial pancreatectomy excision of all the macroscopic pancreatic tumors were performed at the same time. The patient recovered well. Individualized diagnosis and treatment are important for MEN1 patients.更多还原