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目的探讨家族性多发内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)的发病特点、诊断流程和治疗原则。方法对北京大学深圳医院诊治的一组多发内分泌腺瘤病1型家系的临床表现、诊断要点、治疗方法和转归进行回顾性分析。结果同一家族中3例病人被先后诊断为MEN1,并通过基因检测发现一种新的MEN1基因突变位点。针对甲状旁腺功能亢进均给予手术治疗,术后1个月随访甲状旁腺激素水平均恢复正常。结论家族性MEN1的诊断包括临床诊断、家族史和基因诊断3个方面。治疗需要多学科讨论治疗方案,针对甲状旁腺功能亢进者,甲状旁腺次全切除或全切除+甲状旁腺种植是指南推荐的标准手术方案,但目前对于年轻的早期病人仍有一定争议。
Objective To investigate the incidence, diagnosis and treatment of familial multiple endocrine neoplasia type 1 (MEN1). Methods The clinical manifestations, diagnosis points, treatment and outcome of a group of multiple endocrine neoplasia type 1 pediatric patients diagnosed and treated in Shenzhen Hospital of Peking University were analyzed retrospectively. Results Three patients in the same family were successively diagnosed as MEN1, and a new MEN1 gene mutation locus was found through genetic testing. Surgical treatment of hyperparathyroidism were given and the level of parathyroid hormone returned to normal after 1 month of follow-up. Conclusions The diagnosis of familial MEN1 includes three aspects: clinical diagnosis, family history and gene diagnosis. Treatment requires a multidisciplinary discussion of treatment options. Patients with hyperparathyroidism, subtotal parathyroidectomy or total resection plus parathyroid gland implants are recommended guidelines for standard surgical procedures, but there are still controversies in younger patients.