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[1型多发性内分泌腺瘤病:病例报告]

[Multiple endocrine neoplasia type 1: about a case].

作者信息

Anguezomo Gladys, El Mghari Ghizlane, El Ansari Nawal

机构信息

Service d'Endocrinologie, Diabétologie et Maladies Métaboliques, CHU Mohamed VI Marrakech, Maroc.

Faculté de Médecine et de Pharmacie de Marrakech, Université Cadi Ayyad, Marrakech, Maroc.

出版信息

Pan Afr Med J. 2019 Jul 19;33:238. doi: 10.11604/pamj.2019.33.238.18053. eCollection 2019.

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is a rare disease, defined as a tumor developing in at least two endocrine glands including the anterior pituitary gland, the parathyroid glands and the duodenopancreatic endocrine tissue. This disorder, inherited in an autosomal dominant pattern, is caused by mutations in the MEN1 gene encoding the tumor suppressor menin and located on chromosome 11q13. However, sporadic cases account for 8-14%. The first endocrine lesion may be solitary in approximately 75% of cases. However, all major alterations can be inaugural. We here report a case of multiple endocrine neoplasia type 1 revealed by aggressive somatoprolactinic pituitary adenoma which didn't respond to conventional treatment. The detection of primary hyperparathyroidism as well as neuroendocrine tumor of the pancreas seven years later make this a very particular case. Therapeutic options are discussed within the multidisciplinary team specialized in endocrine diseases.

摘要

多发性内分泌腺瘤1型(MEN1)是一种罕见疾病,定义为在至少两个内分泌腺发生肿瘤,这些内分泌腺包括垂体前叶、甲状旁腺和十二指肠胰腺内分泌组织。这种疾病以常染色体显性模式遗传,由位于11q13染色体上编码肿瘤抑制因子menin的MEN1基因突变引起。然而,散发病例占8 - 14%。在大约75%的病例中,首个内分泌病变可能是孤立性的。然而,所有主要病变都可能是首发的。我们在此报告一例由侵袭性生长激素泌乳素型垂体腺瘤引发的多发性内分泌腺瘤1型病例,该垂体腺瘤对传统治疗无反应。七年后检测出原发性甲状旁腺功能亢进以及胰腺神经内分泌肿瘤,使该病例非常特殊。在专门从事内分泌疾病的多学科团队中讨论了治疗方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fa6/6814935/ea2c369a566a/PAMJ-33-238-g001.jpg

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