多发性内分泌肿瘤1型的诊断和外科处理

目的探讨多发性内分泌肿瘤1型（multiple endocrine neoplasia type 1，MEN1）的诊断和外科处理。方法回顾性分析1974年至2005年我院诊断和治疗的MEN1患者的临床资料。结果本组MEN1患者17例，其中11例分属4个家系。1997年后的14例均发现MEN1基因突变。17例患者中甲状旁腺受累11例，并发胰岛素瘤6例，垂体腺瘤8例，肾上腺受累6例，胸腺类癌2例，皮肤纤维瘤样增生合并皮下脂肪瘤2例。2例4种腺体受累，3例3种腺体受累，7例2种腺体受累，4例1种腺体受累，1例12岁携带者尚未检出临床症状及生化改变。6例以肾结石、6例以胰腺内分泌功能障碍为首发症状，2例无明显自觉症状。17例患者中4例行甲状旁腺次全切除，1例行甲状旁腺腺瘤摘除，4例行胰岛素瘤切除手术，2例胸腺类癌行胸腺肿瘤摘除术。结论MEN1临床表现多样，即使同一家系病例亦可有不同表型。基因检查有助明确诊断。手术主要针对甲状旁腺增生、胰岛素瘤和胸腺类癌，在治疗肿瘤同时可改善患者的生存质量。

Diagnosis and surgical treatment of multiple endocrine neoplasia type 1

Objective To discuss the diagnosis and surgical treatment of multiple endocrine neoplasia 1 (MEN1). Methods The clinical data of MEN1 from 1974 to 2005 were retrospectively analyzed. Results There were 17 cases of MEN1 in our group. Among them, 11 cases were from 4 families. MEN1 gene mutation was detected in 14 cases admitted after 1997. There were 11 cases of pHPT, 6 cases of insulinoma, 8 cases of pituitary adenoma, 6 cases of adrenal adenoma, 2 cases of thymic carcinoid and 2 cases of collagenoma. Two patients had respectively 4 glands involved, 3 patients had 3, 7 patients had 2 kinds of gland involved respectively. Four patients had only one kind of gland involved. A 12 year old girl had no clinical symptom and biochemical change. Six patients presented with nephrolithasis, 6 patients had impaired pancreatic endocrine function. Subtotal parathyroidectomy was performed in 4 patients of pHPT, and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Conclusions MEN1 varies in symptoms, even those from the same family. Cermline mutation test helps establish diagnosis. Operations should be aiming at tumor resection as well as the improvement of life quality.