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[1型多发性内分泌腺瘤病的诊断与治疗新进展]

[News in diagnostics and therapy of multiple endocrine neoplasia type 1].

作者信息

Starý Karel

出版信息

Vnitr Lek. 2015 Oct;61(10):896-9.

Abstract

MEN1 syndrome is an autosomal dominant disorder caused by mutation in the men in gene located on the 11th chromosome. It is a rare disorder with incidence of 1 : 30 000. It involves functional or cancerous diseases of parathyroid glands, hypophysis, endocrine pancreas, adrenal glands, or other tumors. The diagnosis of MEN1 is suspected if at least 2 components of this multiple tumor syndrome occur simultaneously. The increase in diagnostic precision enables detection of MEN1 in its early stages. Currently, the most frequently discussed topics include the use of biomarkers for diagnostics and new approaches in surgical treatment of MEN1.

摘要

MEN1综合征是一种常染色体显性疾病,由位于第11号染色体上的MEN1基因发生突变引起。它是一种罕见疾病,发病率为1:30000。它涉及甲状旁腺、垂体、内分泌胰腺、肾上腺的功能性或癌性疾病,或其他肿瘤。如果这种多发性肿瘤综合征的至少2个组成部分同时出现,则怀疑为MEN1。诊断精度的提高能够在MEN1的早期阶段进行检测。目前,最常讨论的话题包括使用生物标志物进行诊断以及MEN1外科治疗的新方法。

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