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首页> 外文期刊>BMJ: British medical journal >Delay in diagnosis of homocystinuria: retrospective study of consecutive patients
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Delay in diagnosis of homocystinuria: retrospective study of consecutive patients

机译:延误诊断高胱氨酸尿:连续患者的回顾性研究

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Objective—To assess the causes for delay in the diagnosis of homocystinuria. Design—Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the ages at which the patients had their first major signs of the disease, ectopia lentis was established, and homocystinuria was diagnosed. Setting—University hospital in the Netherlands. Subjects—34 patients (18 males) in whom homocystinuria due to cystathionine synthase deficiency was diagnosed in the period 1970-94. Results—Among 34 consecutively detected homocystinuria patients the mean age at diagnosis of homocystinuria was 24 (range 1-61) years. Despite frequent ocular manifestations, serious complications in the vascular, skeletal, and central nervous systems, and repeated examinations performed in these patients by clinicians of various disciplines, there was a mean delay of 11 (0-43) years between the first major signs of the disease (at mean age 13 (1-40) years) and the ultimate diagnosis of homocystinuria. Even when ectopia lentis was diagnosed (in 26 (76%) patients, mean age 18 (1-50) years), this did not lead to adequate biochemical analysis for homocystinuria at the time of detection, causing a mean diagnostic delay of 8 (0-24) years in these patients. Conclusions—Three factors should have precipitated the diagnosis of homocystinuria: early recognition that unusual myopia (high, very high, abnormal progressive, or at young age) was caused by subluxation of the ocular lenses; awareness that the occurrence of myopia combined with systemic complications ("myopia plus") might be due to homocystinuria; and appropriate biochemical investigations carried out in patients with ectopia lentis and in their siblings.
机译::靠评估延迟的原因高胱氨酸尿的诊断。实验室数据收集从病人诊断为高胱氨酸尿由于胱硫醚合酶缺乏,特别参考年龄的患者他们的第一次重大疾病的迹象,异位建立了晶状体,高胱氨酸尿诊断。荷兰。高胱氨酸尿由于胱硫醚合成酶缺乏在1970 - 94年期间被诊断出。结果34连续检测高胱氨酸尿病人诊断的平均年龄高胱氨酸尿是24(范围1 - 61)年。尽管频繁的眼部表现,严重血管并发症,骨骼,和中枢神经系统和重复考试中执行这些病人各种学科的临床医生,有一个意思是推迟11(0-43)年间第一重大疾病的迹象(平均年龄13第1 - 40 ()年)和最终的诊断高胱氨酸尿。诊断(26(76%)患者,平均年龄18岁(1-50)年),这并没有带来足够的为高胱氨酸尿生化分析检测时间,造成诊断的意义延迟8(0-24)年这些病人。结论三因素应该沉淀高胱氨酸尿的诊断:不寻常的近视(高,非常的早期识别高,异常的进步,还是在年轻的年龄)引起的眼部晶状体半脱位;意识到发生近视的总和与系统性并发症(“近视+”)是由于高胱氨酸尿;生化进行调查晶状体异位和患者兄弟姐妹。

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