MEN2综合征的原发性甲状旁腺功能亢进。

Q3 Medicine
Katerina Saltiki, Maria Alevizaki
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引用次数: 0

摘要

MEN2综合征的典型形式之一是原发性甲状旁腺功能亢进(PHP)。它发生在20-30%的典型MEN2A综合征中。最近,ret基因携带者的患病率越来越少,可能是由于对家族性MTC病例的认识增加。PHP更常与ret基因外显子11,634突变相关,因此存在表型/基因型相关性。PHP在MEN2中的临床表现通常较轻,诊断高峰年龄在30岁以后。治疗方法是手术切除肿大的腺体。甲状旁腺虽可出现多腺体病变,但也常出现增生与腺瘤并存的情况,甚至在检查过程中发现单一腺瘤,最终在手术过程中发现。有MEN2综合征的患者应通过血清钙测量来筛查PHP。在携带与这种表现最常相关的ret突变的患者中,筛查的强度应该更高。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Primary Hyperparathyroidism in MEN2 Syndromes.

One of the components of the classical form of MEN2 syndromes is primary hyperparathyroidism (PHP). It occurs in 20-30% of the typical MEN2A syndrome. Recently, the prevalence in ret gene carriers is rarer possibly due to the increased recognition of cases who have familial MTC only. PHP is diagnosed more frequently in association with the exon 11, 634 mutation of the ret gene-so there is phenotype/genotype correlation. The clinical manifestations of PHP in MEN2 are usually mild and the peak age of diagnosis is after the third decade. The treatment is surgical excision of the enlarged gland(s). Although there can be multigland disease in the parathyroids, it is frequently the case that both hyperplasia and adenoma may coexist, or even a single adenoma may be found during the investigation and finally during the operation. Patients with MEN2 syndromes should be screened for PHP with serum calcium measurements. The intensity of the screening should be higher in those carrying the ret mutations most frequently associated with this manifestation.

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CiteScore
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