Guimarães Joana
Serviço de Endocrinologia, Diabetes e Metabolismo, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
Acta Med Port. 2007 Jan-Feb;20(1):65-72. Epub 2007 May 23.
The knowledge of genetics has increased in recent years and has led to important changes in management of hereditary diseases. Multiple endocrine neoplasia is characterized by the occurrence of benign or malign tumours involving two or more endocrine glands and two major forms are recognized: MEN1 and MEN2. All these forms of MEN are inherited as autosomal dominant syndromes. In this article we briefly review the clinic, diagnosis and treatment for the MEN1 and MEN2 and the indications for genetic testing.
近年来,遗传学知识不断增加,这导致了遗传性疾病管理方面的重大变革。多发性内分泌腺瘤病的特征是出现涉及两个或更多内分泌腺的良性或恶性肿瘤,已确认有两种主要类型:MEN1和MEN2。所有这些类型的MEN均作为常染色体显性综合征遗传。在本文中,我们简要回顾了MEN1和MEN2的临床症状、诊断、治疗以及基因检测的指征。