Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study
Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study
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DOI：
10.1210/jc.2008-1049
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发表时间：
2008-12-01
影响因子：
5.8
通讯作者：
Jacobs, Patricia A.
中科院分区：
文献类型：
--
作者：
Schoemaker, Minouk J.;Swerdlow, Anthony J.;Jacobs, Patricia A.
特纳综合征的特征是完全或部分X染色体单体性。目的：我们的目的是调查特纳综合征妇女的死亡率和死亡原因。设计和设置：我们在英国几乎所有的细胞遗传学中心建立了一个被诊断为特纳综合征的妇女队列，并跟踪她们的死亡率。对1959-2002年间确诊的3439名妇女进行随访至2006年底。结果：评估标准化死亡率（SMR）和绝对超额风险。总体死亡率显著升高[SMR = 3.0; 95%置信区间（CI）= 2.7-3.4]，几乎所有主要死因的死亡率均升高。循环系统疾病占超额死亡率的41%，主动脉瘤（SMR = 23.6; 95% CI = 13.8-37.8）和主动脉瓣疾病（SMR = 17.9; 95% CI = 4.9 - 46.0）的SMR最高，但其他循环系统疾病的SMR也升高。导致死亡率上升的其他主要因素包括先天性心脏畸形、糖尿病、癫痫、肝脏疾病、非感染性肠炎和结肠炎、肾脏和输尿管疾病以及肺炎。绝对过剩的死亡风险是相当大的，在老年人比年轻ages.Conclusions：特纳综合征的女性死亡率是3倍高于一般人群，几乎所有的主要死亡原因提出，并提出在所有年龄段，最大的过剩死亡率在老年人。这些风险需要在患者的随访和咨询中加以考虑，并增加了成人（而不仅仅是儿科）护理中继续随访和预防措施的理由。（临床内分泌代谢杂志93：4735-4742，2008）
Context: Turner syndrome is characterized by complete or partial X chromosome monosomy. It is associated with substantial morbidity, but mortality risks and causes of death are not well described.Objectives: Our objective was to investigate mortality and causes of death in women with Turner syndrome.Design and Setting: We constructed a cohort of women diagnosed with Turner syndrome at almost all cytogenetic centers in Great Britain and followed them for mortality.Patients: A total of 3439 women diagnosed between 1959-2002 were followed to the end of 2006.Outcome Measures: Standardized mortality ratios (SMRs) and absolute excess risks were evaluated.Results: In total, 296 deaths occurred. Mortality was significantly raised overall [SMR = 3.0; 95% confidence interval (CI) = 2.7-3.4] and was raised for nearly all major causes of death. Circulatory disease accounted for 41% of excess mortality, with greatest SMRs for aortic aneurysm (SMR = 23.6; 95% CI = 13.8-37.8) and aortic valve disease (SMR = 17.9; 95% CI = 4.9 - 46.0), but SMRs were also raised for other circulatory conditions. Other major contributors to raised mortality included congenital cardiac anomalies, diabetes, epilepsy, liver disease, noninfectious enteritis and colitis, renal and ureteric disease, and pneumonia. Absolute excess risks of death were considerably greater at older than younger ages.Conclusions: Mortality in women with Turner syndrome is 3-fold higher than in the general population, is raised for almost all major causes of death, and is raised at all ages, with the greatest excess mortality in older adulthood. These risks need consideration in follow-up and counseling of patients and add to reasons for continued follow-up and preventive measures in adult, not just pediatric, care. (J Clin Endocrinol Metab 93: 4735-4742, 2008)