Glass H C, Feigenbaum A, Clarke J T R
Division of Pediatric Neurology, Alberta Children's Hospital, University of Calgary, Alberta.
J Inherit Metab Dis. 2006 Feb;29(1):175-8. doi: 10.1007/s10545-006-0118-1.
A retrospective chart review of new paediatric patients seen during the calendar year 1998 by specialists of the Division of Clinical and Metabolic Genetics of the Hospital for Sick Children in Toronto, the largest such referral centre in the country, showed that 81% of specific genetic metabolic diagnoses were made within one month of being seen in consultation by one of the consultants of the programme. In 5% of cases, a specific diagnosis was not reached 4 years after initial consultation. We concluded from this study that the specific diagnosis of inborn errors of metabolism at a major medical genetic referral centre tended to be made quickly, or never. Some of the causes of delays in diagnosis include (1) the lack of ready access to existing diagnostic laboratory testing; (2) technical barriers to the identification of specific metabolic or genetic defects; and (3) incomplete knowledge of genetic defects causing inherited metabolic diseases.
对多伦多病童医院临床与代谢遗传学部门的专家在1998年日历年期间诊治的新儿科患者进行的回顾性病历审查显示，该国最大的此类转诊中心的81%的特定遗传代谢诊断是在该项目的顾问会诊后一个月内做出的。在5%的病例中，初次会诊4年后仍未做出明确诊断。我们从这项研究中得出结论，在一个主要的医学遗传转诊中心，先天性代谢缺陷的明确诊断往往能迅速做出，或者根本无法做出。诊断延迟的一些原因包括：（1）无法方便地进行现有的诊断实验室检测；（2）识别特定代谢或遗传缺陷的技术障碍；（3）对导致遗传性代谢疾病的遗传缺陷了解不全面。
