Wood N W
Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery, London.
Arch Dis Child. 1998 Mar;78(3):204-7. doi: 10.1136/adc.78.3.204.
Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases. Genetic testing has been shown to be of value in establishing the correct diagnosis and in directing the appropriate screening tests, including cardiological assessment and blood sugar estimation. Perhaps the most interesting development following identification of the gene is the rapid progress in our understanding of the protein. If, as seems likely, it turns out to be a mitochondrial protein involved in iron transport, it gives cause for hope of effective treatment.
临床诊断仍然至关重要。在我们对严格按照标准诊断的病例进行回顾时发现，所有病例的扩增均为纯合子。然而，既然现在有了相对简单的直接基因检测方法，那么在一些更为特殊的病例中也可以考虑进行诊断。基因检测已被证明在确立正确诊断以及指导适当的筛查检查方面具有价值，这些检查包括心脏评估和血糖测定。在确定该基因后，或许最有趣的进展是我们对这种蛋白质的理解有了迅速的进步。如果事实证明它很可能是一种参与铁转运的线粒体蛋白，那么就有理由对有效治疗抱有希望。
