Surveillance for rare disorders by the BPSU
Surveillance for rare disorders by the BPSU
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DOI：
10.1136/adc.87.4.269
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发表时间：
2002-10-01
影响因子：
5.2
通讯作者：
Preece, M
中科院分区：
文献类型：
--
作者：
Verity, C;Preece, M
第269条。archdischild。获取所有PIND患儿的临床信息，并将匿名细节提交给儿科神经科专家小组。专家组仔细审查临床情况和当地进行的调查，并根据诊断对病例进行分类。经过5年的监测，该研究报告了1320名疑似PIND的儿童。相对而言，在这个年龄段只有6名vCJD儿童被确诊，但他们都是在过去三年内被告知的。儿童中可能会出现更多的vCJD病例，因此PIND监测将继续进行。如果没有儿科医生通过BPSU的积极合作，开展这一重要的公共卫生监测是不现实的。一项研究的一个相对罕见的条件具有广泛的重要性的例子是中链酰基辅酶a脱氢酶（MCAD）缺乏症，在这种情况下，易感儿童有可能出现严重的脑病。这种情况可能在轻微疾病后导致死亡，这项研究强调了MCAD缺乏症可能被错误地归类为婴儿猝死综合征的事实。另一个重要的鉴别诊断是雷氏综合征，这是一种罕见的与肝功能障碍相关的非炎症性脑病。雷氏综合征的国家监测于1986年转移到BPSU卡，并一直进行到2001年。在药品安全委员会发布关于儿童使用阿司匹林的警告后，这种监测能够记录“典型”雷氏综合征发生率的急剧下降。MCAD缺乏症的研究强调了这样一个事实，即许多代谢紊乱可能表现为“雷氏综合征样”疾病，在临床和病理上与雷氏综合征相似。因此，两项BPSU的研究相互阐明，都有助于阐明一个重要的公共卫生问题——在幼儿中使用阿司匹林。
LEADING ARTICLE 269 www. archdischild. com obtain clinical information about all children with PIND and present the anonymised details to an Expert Group of paediatric neurologists. The Expert Group carefully reviews the clinical picture and the investigations performed locally and classifies the cases according to diagnosis. After five years of surveillance 1320 children with suspected PIND have been reported to the study. It is relatively reassuring that just six children with vCJD have been identified in this age group, but they were all notified in the past three years. It is possible that more cases of vCJD will occur in children, so PIND surveillance continues. It would not be practical to perform this important public health surveillance without the active cooperation of paediatricians via the BPSU.Non-infectious conditions An example of a study of a relatively rare condition that had wide importance was that of medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency, in which there is the possibility of a severe encephalopathy in susceptible children. 9 This condition might cause death after an apparently minor illness, and this study highlighted the fact that MCAD deficiency could be wrongly classified as sudden infant death syndrome. Another important differential diagnosis is Reye’s syndrome, which is a rare noninflammatory encephalopathy associated with hepatic dysfunction. National surveillance for Reye’s syndrome was transferred to the BPSU card in 1986 and was underway until 2001. This surveillance was able to document the dramatic reduction in incidence of “classic” Reye’s syndrome after the Committee on Safety of Medicines issued warnings about the use of aspirin in children. 10 The study of MCAD deficiency served to highlight the fact that a number of metabolic disorders may present with a “Reye like” illness that is clinically and pathologically similar to Reye’s syndrome. Thus two BPSU studies shed light on each other and both helped to illuminate an important public health issue—the use of aspirin in young children.