Sipple综合征1例并文献复习  

A case of Sipple syndrome and literature review

作　　者：黄岸豪 黎土轩 谢建兴[3] 孟磊[3] HUANG Anhao;LI Tuxuan;XIE Jianxing;MENG Lei(Department of Urinary Surgery, Shenzhen Baoan District Hospital of Traditional Chinese Medicine, Guangdong Province, Shenzhen 518000, China;Department of Urinary Surgery, the Second Affiliated Hospital of Guangdong Medical University, Guangdong Province, Zhanjiang 524000, China;Department of Urinary Surgery, the First Affiliated Hospital of Guangdong University of Traditional Chinese Medicine, Guangdong Province, Guangzhou 510000, China)

机构地区：[1]深圳市宝安区中医院泌尿外科,广东深圳518000 [2]广东医科大学附属第二医院泌尿外科,广东湛江524000 [3]广州中医药大学第一附属医院泌尿外科,广东广州510000

出　　处：《中国医药导报》2019年第11期154-156,160,共4页China Medical Herald

摘　　要：Sipple综合征(MEN-2A)是一种可累及多种内分泌器官同时或相继出现病变的肿瘤综合征,作为一种罕见的呈家族性遗传的疾病,其发生与位于常染色体上的RET基因突变有关。RET基因通常表达在甲状腺C细胞、嗜铬细胞和甲状旁腺细胞上,故Sipple综合征在临床诊治过程中易漏诊为甲状腺髓样癌(MTC)、嗜铬细胞瘤(PHEO)、原发性甲状旁腺功能亢进症(PHPT)中一种或几种。广州中医药大学第一附属医院收治了1例具有嗜铬细胞瘤家族史的Sipple综合征患者,诊治过程中发现患者的多个内分泌器官(肾上腺、胰腺、甲状旁腺、甲状腺)及非内分泌器官(左侧股骨)发生病变,诊断上考虑为多发性内分泌肿瘤综合征(MEN)。而MEN包括由MEN-1基因突变引起的MEN-1及由RET基因突变引起的MEN-2,为明确诊断行MEN-1及RET基因检测,结果回报为RET基因突变导致的MEN-2A,即Sipple综合征。Sipple综合征的病变常累及肾上腺、甲状腺及甲状旁腺,故早期的诊断上是依赖对嗜铬细胞瘤、甲状腺髓样癌、甲状旁腺瘤等定位、定性的检查。RET基因是Sipple综合征诊断的金标准,手术是其主要的治疗措施。Sipple syndrome (MEN-2A) is a tumor syndrome that can affect multiple endocrine organs simultaneously or sequentially. As a rare familial inherited disease, it is associated with mutations in the RET gene located on the autosome. The RET gene is usually expressed on thyroid C cells, chromaffin cells and parathyroid cells, so Sipple syndrome is easily missed as one or more of Medullary carcinoma of the thyroid gland (MTC), pheochromocytoma (PHEO) and primary hyperparathyroidism (PHPT). One patient was admitted to the First Affiliated Hospital of Guangdong University of Traditional Chinese Medicine with a left adrenal mass, with the typical PHEO symptoms: palpitations and hyperhidrosis. During the diagnosis and treatment, multiple endocrine organs (adrenal, pancreas, parathyroid, thyroid) and non-endocrine organs (left femur) were found in the diagnosis, and MEN (multiple endocrine neoplasia) were diagnosed. MEN includes MEN-1 caused by mutation of MEN-1 gene and MEN-2 caused by mutation of RET gene.Aim to definite diagnosis, the patient took RET gene test and MEN-1 gene test after the surgery. The results were reported as MEN-2A caused by RET gene mutation. The lesions of Sipple syndrome often involve the adrenal, thyroid and parathyroid glands, so early diagnosis depends on the localization and qualitative diagnosis of pheochromocytoma, medullary thyroid carcinoma, and parathyroid adenoma. RET gene is the gold standard for the diagnosis of Sipple syndrome,and surgery is the main treatment for it.

关 键 词：Sipple综合征 嗜铬细胞瘤 甲状腺髓样癌 甲状旁腺瘤 RET基因 

分 类 号：R736.6[医药卫生—肿瘤]