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一组新的多发性内分泌腺瘤病1型家系诊治分析

李朋 朱丽璋 韦伟

中国实用外科杂志2017,Vol.37Issue(3):266-270,5.
中国实用外科杂志2017,Vol.37Issue(3):266-270,5.DOI:10.19538/j.cjps.issn1005-2208.2017.03.14

一组新的多发性内分泌腺瘤病1型家系诊治分析

The treatment experience for a new set of multiple endocrine neoplasia type 1 family

李朋 1朱丽璋 1韦伟1

作者信息

  • 1. 北京大学深圳医院甲状腺外科,广东深圳518036
  • 折叠

摘要

Abstract

Objective To explore characteristics, diagnosis and treatment principles for the familial multiple endocrine neoplasia type 1 (MEN1). Methods The clinical manifestations, diagnosis, treatment and prognosis were analyzed for a group of familial MEN1 diagnosed in Peking University Shenzhen Hospital recently. Results 3 cases were diagnosed as MEN1 in a same family, and a new MEN1 gene mutation was detected by gene detection. All patients were given surgical treatment for hyperparathyroidism, and the parathyroid hormone levels were restored to normal a month later. Conclusion The diagnosis of familial MEN1 includes 3 aspects:clinical diagnosis, family history and gene diagnosis. Treatment plan requires multidisciplinary treatment options,The standard operation mode was subtotal parathyroidectomy or total parathyroidectomy plus autotransplantation for hyperparathyroidism, But there is still some controversy about early and young patients.

关键词

多发性内分泌腺瘤病1型/基因突变/甲状旁腺功能亢进

Key words

multiple endocrine neoplasia type 1(MEN1)/gene mutation/hyperparathyroidism

分类

医药卫生

引用本文复制引用

李朋,朱丽璋,韦伟..一组新的多发性内分泌腺瘤病1型家系诊治分析[J].中国实用外科杂志,2017,37(3):266-270,5.

中国实用外科杂志

OA北大核心CSCDCSTPCD

1005-2208

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