Effect of CDC73 gene mutation on clinical characteristics of sporadic children/adolescent-onset primarg hyperparathyroidism
10.3969/j.issn.1001-6325.2017.11.005
- VernacularTitle:CDC73基因突变对儿童/青少年散发性原发性甲状旁腺功能亢进症临床特点的影响
- Author:
bo Wen WANG
1
;
Jing KONG
;
Min NIE
;
Mei LI
;
bo Wei XIA
;
ping Xiao XING
;
Ou WANG
Author Information
1. 中国医学科学院北京协和医学院北京协和医院内分泌科国家卫生和计划生育委员会内分泌重点实验室
- Keywords:
primary hyperparathyroidism;
children/adolescents;
CDC73 gene;
parathyroid carcinoma
- From:
Basic & Clinical Medicine
2017;37(11):1519-1523
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the characteristics and molecular genetics of sporadic children /adolescent-onset primary hyperparathyroidism PHPT patients and analyze the difference of characteristics between patients with and without CDC73 gene mutations .Methods Germline mutation analyses of MEN1, CDC73, RET, CDKN1B, and CaSR genes were performed in 22 sporadic children/adolescent-onset PHPT patients .Their clinical data were retrospectively analyzed.Results Four patients were found to carry CDC 73 mutations with the mutation rate of 18%(4/22).Patients with CDC73 gene mutationshad higher rates of parathyroid carcinoma and atypical adenomas than those without ,and the recurrence rate postoperatively was as high as 50%.Conclusions Genetic mutation testing is recommended in spo-radic children/adolescent-onset PHPT patients, especially the CDC73 gene.
