Juvenile Huntington's disease: a population-based study using the General Practice Research Database
Juvenile Huntington's disease: a population-based study using the General Practice Research Database
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DOI：
10.1136/bmjopen-2012-002085
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发表时间：
2013-01-01
期刊：
影响因子：
2.9
通讯作者：
Wexler, Nancy S.
中科院分区：
文献类型：
--
作者：
Douglas, Ian;Evans, Stephen;Wexler, Nancy S.
幼年型亨廷顿病（HD）是一种罕见的疾病。目前还没有基于人口的估计其在世界任何人口中的发病率或流行率。本研究进行估计青少年HD在英国的频率，并检查在其management.Method使用的药理学治疗的范围内的个人在21岁以下的人记录的诊断HD从1990年至2010年的全科医学研究数据库检索的记录。从这些数据的发病率和患病率的估计，以及在治疗中使用的具体治疗的身体和心理的incidents.Results 12事件和21例流行的青少年HD患者被确定。21例流行病例包括12例事件病例。基于人群的最小发病率估计值为0.70（95% CI 0.36 - 1.22）/百万患者年。患病率的最低估计值为6.77/百万（95% CI 5.60 - 8.12）/百万患者年。最常见的处方抗抑郁药，催眠药，抗精神病药和治疗运动abnormality.Conclusions在英国，青少年HD是一种非常罕见和复杂的疾病。处方数据表明，青少年HD的临床管理是在所用治疗的疗效或安全性没有正式证据基础的情况下进行的。迫切需要对适当疗法的安全性和有效性进行研究，以抵消处方的随意性。要招募足够的人数，就必须进行多国合作。不过，探索性研究应该从开始。
Background The juvenile form of Huntington's disease (HD) is a rare disorder. There are no population-based estimates of either its incidence or prevalence in any population in the world. The present study was undertaken to estimate the frequency of juvenile HD in the UK and to examine the range of pharmacological treatments used in its management.Method The records of individuals under the age of 21 who had recorded diagnoses of HD were retrieved from the General Practice Research Database from 1990 through 2010. From these data estimates of incidence and prevalence were made as well as the specific treatments used in the treatment of its physical and psychological manifestations.Results 12 incident and 21 prevalent patients with juvenile HD were identified. The 21 prevalent cases included the 12 incident cases. The minimum population-based estimate of incidence is 0.70 (95% CI 0.36 to 1.22) per million patient-years. The minimum estimate of prevalence is 6.77/million (95% CI 5.60 to 8.12) per million patient-years. Patients were most frequently prescribed antidepressants, hypnotics, antipsychotics and treatments for motor abnormalities.Conclusions In the UK, juvenile HD is an extremely rare and complex disorder. The prescribing data demonstrate that the clinical management of juvenile HD is undertaken with no formal evidence base for the efficacy or safety of the treatments used. Research into the safety and efficacy of appropriate therapies is urgently required to offset the haphazard nature of prescribing. Multinational collaboration will be necessary to enrol sufficient numbers. Exploratory studies, though, should begin now.