Department of Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Department of Medical Genetics, Liverpool Women's Hospital, Liverpool, UK.
Arch Dis Child. 2015 Oct;100(10):994-9. doi: 10.1136/archdischild-2014-307028. Epub 2015 Apr 8.
The identification of the genetic causes of the multiple endocrine neoplasia (MEN) syndromes 1 and 2, and associated genotype-phenotype relationships, has revolutionised the clinical care of affected patients. A genetic diagnosis can be made during infancy and careful clinical surveillance, coupled with early intervention, has the potential to improve both morbidity and mortality. These developments have seen the management of patients with MEN move into the arena of paediatric medicine. In this review article, we consider the genetic causes of MEN together with the clinical manifestations and management of these syndromes.
多种内分泌腺肿瘤(MEN)综合征 1 型和 2 型的遗传病因的鉴定,以及相关的基因型-表型关系,彻底改变了受影响患者的临床护理。在婴儿期即可做出遗传诊断,通过仔细的临床监测,加上早期干预,有可能改善发病率和死亡率。这些进展使得 MEN 患者的管理进入了儿科医学领域。在这篇综述文章中,我们考虑了 MEN 的遗传病因,以及这些综合征的临床表现和管理。