1b型假性甲状旁腺功能减退症临床及基因甲基化分析  

Clinical and gene methylation analysis of type 1b pseudohypoparathyroidism

作　　者：马瑜瑾[1] 刘鹏[1] 袁园[1] 逯海波[1] 张文博[1] 付留俊[1] 李利平[1] 刘婕[1] 张颖裕 彭慧芳 姜宏卫[1] Ma Yujin;Liu Peng;Yuan Yuan;Lu Haibo;Zhang Wenbo;Fu Liujun;Li Liping;Liu Jie;Zhang Yingyu;Peng Huifang;Jiang Hongwei(Luoyang City Clinical Research for Endocrinology and Metabolism,Department of Endocrinology and Metabolism,the First Affiliated Hospital of Henan University of Science and Technology,Luoyang 471003,China)

机构地区：[1]河南科技大学第一附属医院内分泌代谢科,洛阳市内分泌代谢病临床医学研究中心,洛阳471003

出　　处：《中华内分泌代谢杂志》2019年第12期1001-1005,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：河南省中国科学院科技成果转移转化项目(2018105);河南省省直医疗机构服务能力提升工程建设项目(2017)。

摘　　要：目的分析1b型假性甲状旁腺功能减退症(PHP)临床特点,以提高对该疾病的认识和诊断。方法纳入5例于2018年在本院经分子生物学诊断为1b型PHP患者,分析其临床资料、生化指标、影像学检查和基因检测结果。结果其中女性4例,男性1例,均存在低钙血症、高磷血症、高甲状旁腺素血症;起病年龄跨度较大,起病症状不同;家族史可不明显;基因测序阴性,采用甲基化特异性多重连接探针扩增(MS-MLPA)发现存在GNAS基因甲基化异常或STX16基因外显子缺失。结论对临床怀疑PHP但基因测序为阴性的患者仍需采用MS-MLPA技术进行检测;不同的甲基化异常及拷贝数变异对1b型PHP起病症状及家族性存在一定的相关性。Objective This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP)type 1b,and to improve the understanding and diagnosis of the disease.Methods Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled,their clinical data,biochemical indicators,imaging,and gene detection results were analyzed.Results There were 4 females and 1 male,with low calcium,high phosphorus and high PTH serum concentrations.The onset age span was large and the onset symptoms were different.Family history may not be obvious.There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification(MS-MLPA)detection while gene sequencing result was negative.Conclusion MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result.Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.

关 键 词：1b型假性甲状旁腺功能减退症 GNAS 甲基化 

分 类 号：R5[医药卫生—内科学]