多发性内分泌腺瘤1型的妊娠期管理：家系临床和基因分析并文献回顾

来源:用户上传      作者:叶志伟?邓洪容?刘芷谷?林惠敏?许雯?姚斌

　　【摘要】 目的 探多发性内分泌腺瘤1型（MEN1）的妊娠期临床特点和管理策略。方法 收集1例MEN1先证者的性别、年龄、详细病史、临床症状、体征、实验室检查、影像学检查和病理学检查数据，并收集该MEN1家系中20名成员的人口学特征、临床特征和辅助检查。为回顾MEN1妊娠期病例，以“Multiple Endocrine Neoplasia Type 1”和“Pregnant”为关键词在Pubmed搜索，以“多发性内分泌腺瘤病”和“妊娠”在万方数据知识服务平台搜索。结果 本例MEN1先证者以垂体微腺瘤（溢乳、催乳素升高）、胰腺内分泌肿瘤（低血糖）及甲状旁腺腺瘤（无症状、甲状旁腺素和血钙升高）为主要临床表现。基因分析证实MEN1基因9号外显子（CGA>TGA，Arg415Term）突变为先证者致病基因。先证者的父亲和女儿携带该致病基因并有甲状旁腺功能亢进。先证者在药物治疗垂体微腺瘤和手术治疗胰腺内分泌肿瘤、甲状旁腺腺瘤后顺利妊娠并成功分娩1名女婴，其间无再次出现溢乳和低血糖发作，血PTH和血钙水平稳定，胎儿生长发育正常。共检索到相关英文病例报道7例，中文病例1例。总结既往文献报道的8例MEN1妊娠期病例，所有MEN1患者均于育龄期起病。甲状旁腺、胰腺和垂体是最常出现临床症状的内分泌腺体，多数患者存在家族史和相应的MEN1基因突变，其中7例患者在严密病情监测和治疗下成功分娩。结论 临床医师对妊娠期MEN1患者的积极检测和诊疗，将有助于改善MEN1患者及其子代的预后。
　　【关键词】 多发性内分泌腺瘤1型;MEN1基因;妊娠;常染色体;垂体腺瘤
　　Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature Ye Zhiwei△， Deng Hongrong， Liu Zhigu， Lin Huimin， Xu Wen， Yao Bin. △Department of Endocrinology and Metabolism， the Third Affiliated Hospital of Sun Yat-sen University， Guangzhou 510630， China
　　Corresponding author， Yao Bin， E-mail： yaobin1910@126.com
　　【Abstract】 Objective To investigate the clinical characteristics and management strategies for multiple endocrine neoplasia 1 （MEN1） during pregnancy. Methods The gender， age， detailed medical history， clinical symptoms and signs， laboratory， imaging and pathological examination data of a MEN1 proband were collected. And the demographic characteristics， clinical characteristics and auxiliary examination of 20 members from the MEN1 family were also collected. MEN1 cases during pregancy were searched from PubMed and Wanfang Data using the keywords of “Multiple Endocrine Neoplasia Type 1“and“Pregnant” in both English and Chinese. Results The main clinical manifestations of the MEN1 proband were pituitary microadenoma （galactorrhea， elevated prolactin）， pancreatic endocrine tumor （hypoglycemia） and parathyroid adenoma （asymptomatic， elevated parathyroid hormone and blood calcium）. Gene analysis confirmed that exon 9 of MEN1 gene （CGA > TGA， arg415term） was the pathogenic mutated gene. The father and daughter of the proband carried this pathogenic mutation and had hyperparathyroidism. After drug treatment for pituitary microadenoma and surgical treatment for pancreatic endocrine tumor and parathyroid adenoma， the proband was pregnant and delivered a female infant successfully. During this period， there was no recurrence of galactorrhea and hypoglycemia， the levels of parathyroid hormone and blood calcium were stable， and fetal growth and development were normal. A total of seven pregnant cases of MEN1 in English literature and one in Chinese literature were retrieved. It was found that all MEN1 patients developed onset of diseases at childbearing age. As for clinical symptoms， parathyroid， pancreas and pituitary were the most involved. Most patients had family history and MEN1 gene mutation. In terms of pregnancy outcome， seven patients delivered successfully under strict condition monitoring and treatment. Conclusion Clinicians’ active detection， diagnosis and treatment will help to improve the prognosis of MEN1 patients and their offspring.

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