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2A型多发性内分泌腺瘤综合征患者成功进行肾移植:病例研究

Successful kidney transplantation in a patient with multiple endocrine neoplasia type 2A syndrome: case study.

作者信息

Rudzki S, Matuszek M, Bicki J, Furmaga J, Pilat J, Gieryng J

机构信息

First Department of General, Transplant Surgery, and Clinical Nutrition of the Medical University of Lublin, Poland.

出版信息

Transplant Proc. 2011 Oct;43(8):3145-8. doi: 10.1016/j.transproceed.2011.08.018.

Abstract

We present the case of a 37-year-old patient diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) syndrome, as confirmed by genetic tests, who underwent the transplantation of a kidney from a cadaveric donor. MEN 2A, a hereditary autosomal dominant syndrome, is caused by the mutation of the RET proto-oncogene. In almost all patients this syndrome, is characterized by the occurrence of medullary thyroid cancer and pheochromocytoma; in some individuals also hyperparathyroidism. The available literature has not documented a kidney transplantation performed in Poland for this indication.

摘要

我们报告一例37岁被诊断为2A型多发性内分泌腺瘤病(MEN 2A)综合征的患者,基因检测已证实该诊断,其接受了来自尸体供体的肾脏移植。MEN 2A是一种遗传性常染色体显性综合征,由RET原癌基因突变引起。几乎所有该综合征患者的特征都是甲状腺髓样癌和嗜铬细胞瘤的发生;部分患者还伴有甲状旁腺功能亢进。现有文献未记载波兰有针对该适应症进行的肾脏移植手术。

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