多发性内分泌腺瘤病 1 型 (MEN 1)

概述

多发性内分泌腺瘤病 1 型（MEN 1）有时也称为 Wermer 综合征，这种罕见的疾病会导致内分泌腺以及小肠和胃的某些部分出现肿瘤。在多发性内分泌腺瘤病 1 型中，内分泌腺（通常是副甲状腺、胰腺和垂体）会长出肿瘤，并释放可能引起疾病的过量激素。但是，这些肿瘤通常是非癌性（良性）的。

过量的激素可能引起各种体征和症状，其中包括疲劳、骨痛、骨折、肾结石以及胃或肠溃疡。MEN 1 尚无治愈方法，但定期接受检测可以发现问题，医生可以根据需要提供治疗。

MEN 1 是一种遗传性疾病，这意味着出现基因突变的人可能将这种疾病遗传给他们的子女。每个子女都有 50% 的几率遗传这种疾病。

症状

MEN 1 的体征和症状包括：

• 疲倦
• 骨痛
• 骨折
• 肾结石
• 胃溃疡或肠溃疡

导致这些症状的原因是体内激素分泌过多。

病因

MEN 1 is caused by a change in the MEN1 gene. That gene controls how the body makes a protein called menin. Menin helps to keep cells in the body from growing and dividing too quickly.

Research has found that there are many different changes in the MEN1 gene that can cause the MEN 1 condition to develop. People who have one of those genetic changes can pass it on to their children. Many people with a change in the MEN1 gene inherit it from a parent. But some people are the first in their family to have a new MEN1 gene change that doesn't come from a parent.

风险因素

• Children with a parent who has a genetic change in the MEN1 gene are at risk of inheriting that genetic change and developing MEN 1. A child who has a parent with a genetic change for MEN 1 has a 50% chance of inheriting the same genetic change.
• Parents and siblings of people who have a change in the MEN1 gene also are at risk of having the same genetic change. That's true even if they have not yet developed symptoms of MEN 1.