Thorburn D R, Smeitink J
The Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
J Inherit Metab Dis. 2001 Apr;24(2):312-6. doi: 10.1023/a:1010347808082.
The topic of Workshop W3-1 was clinical and biochemical approaches to the diagnosis of mitochondrial respiratory chain disorders. Four main questions were addressed in an attempt to make some progress towards a consensus diagnostic approach: What are the major limitations in diagnosis of respiratory chain dysfunction? What is the ideal approach to investigating children with a suspected respiratory chain disorder? Can we begin to develop consensus diagnostic criteria? Can we develop a quality assurance (QA) scheme for respiratory chain enzyme assays? The workshop demonstrated strong consensus on recognizing the limitations of current diagnostic approaches, on the ideal diagnostic approach and on the desirability of an enzyme QA scheme. There was also support for the desirability of consensus diagnostic criteria, albeit with some concerns about the practicality of gaining consensus. Two potential approaches to developing consensus criteria were described.
W3 - 1研讨会的主题是线粒体呼吸链疾病诊断的临床和生化方法。为了在达成共识诊断方法方面取得一些进展，探讨了四个主要问题：呼吸链功能障碍诊断的主要局限性是什么？对于疑似呼吸链疾病的儿童，理想的调查方法是什么？我们能否开始制定共识诊断标准？我们能否制定呼吸链酶检测的质量保证（QA）方案？研讨会表明，在认识当前诊断方法的局限性、理想的诊断方法以及酶QA方案的可取性方面达成了强烈共识。对于共识诊断标准的可取性也有支持，尽管有人对达成共识的实际可行性表示担忧。还描述了制定共识标准的两种潜在方法。
