All-Cause and Disease-specific Mortality and Morbidity in Patients With Congenital Hypothyroidism Treated Since the Neonatal Period: A National Population-based Study
All-Cause and Disease-specific Mortality and Morbidity in Patients With Congenital Hypothyroidism Treated Since the Neonatal Period: A National Population-based Study
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DOI：
10.1210/jc.2012-2731
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发表时间：
2013-02-01
影响因子：
5.8
通讯作者：
Leger, Juliane
中科院分区：
文献类型：
--
作者：
Azar-Kolakez, Ahlam;Ecosse, Emmanuel;Leger, Juliane
内容：鲜为人知的是，长期健康的先天性甲状腺功能减退症治疗的患者，因为新生儿period.Objective：要评估的原因，死亡率和合并症在一个以人口为基础的登记册的年轻成人patients.Design，设置，和参与者：所有1772名合格的患者在第一个十年后，在法国新生儿筛查的介绍诊断参加了这项研究。2010年5月，99.5%的患者获得了关于生命状态的随访数据。从1202名选定patients.Main Outcome Measures：Allcause and cause-specific mortality and comormality.Results：先天性甲状腺功能减退症（CH）患者的全因死亡率略高于基于年龄、性别的预期（标准化死亡率比[SMR] 1.24，95%CI：0.81-1.82）。每类潜在死因的SMR显示，CH患者中中枢神经系统疾病（SMR 5.22，95% CI：1.68-12.17）和先天性畸形（SMR 3.15，95% CI：1.86-6.49）导致的死亡率显著高于预期。完成问卷调查的1202例患者发生相关慢性疾病的风险是参考人群的两倍（比值比2.0 [1.32-3.03]）。神经或精神疾病和先天性畸形最常见（比值比分别为2.54 [1.12-5.86]、4.18 [1.27-13.76]和4.36 [1.24-15.34]）。总体而言，死亡率和发病率不受性别，疾病的严重程度，CH的原因，或充分的treatment.Conclusion：预后有了很大的改善，但在法国的第一个10年的筛选诊断的少数患者，但显示comorphism和死亡率由于各种神经发育障碍和相关畸形。这些结果表明，需要继续改善护理和研究，以提供有关疾病的全谱和这些发育异常的机制的知识。（J Clin Endocrinol Metab 98：785-793，2013）
Context: Little is known about the long-term health of patients treated for congenital hypothyroidism since the neonatal period.Objective: To evaluate the causes of mortality and comorbidity in a population-based registry of young adult patients.Design, Setting, and Participants: All 1772 eligible patients diagnosed during the first decade after the introduction of neonatal screening in France participated in the study. Follow-up data on vital status were available, in May 2010, for 99.5% of the patients. Completed questionnaires were obtained from 1202 of the selected patients.Main Outcome Measures: All-cause and cause-specific mortality and comorbidity.Results: All-cause mortality in the congenital hypothyroidism (CH) patients was slightly higher than expected on the basis of year, age, and sex (standardized mortality ratio [SMR] 1.24, 95% CI: 0.81-1.82). SMRs for each category of underlying cause of death showed mortality due to diseases of the central nervous system (SMR 5.22, 95% CI: 1.68-12.17) and congenital malformations (SMR 3.15, 95% CI: 1.86-6.49) to be significantly higher than expected in the CH patients. The risk of developing an associated chronic disease in the 1202 patients who completed the questionnaire was twice that for the reference population (odds ratio 2.0 [1.32-3.03]). Neurologic or mental diseases and congenital malformations were the most frequent (odds ratios 2.54 [1.12-5.86], 4.18 [1.27-13.76], and 4.36 [1.24-15.34], respectively). Overall, mortality and morbidity were not affected by sex, disease severity, cause of CH, or adequacy of treatment.Conclusion: Prognosis has improved considerably, but a few patients diagnosed during the first 10 years of screening in France nonetheless displayed comorbidity and mortality due to various neurodevelopmental disorders and associated malformations. These results reveal a continuing need for improvements in care and studies to provide knowledge about the full spectrum of the disease and the mechanisms underlying these developmental abnormalities. (J Clin Endocrinol Metab 98:785-793, 2013)