Tavill Anthony S, Adams Paul C
Case Western Reserve School of Medicine and Cleveland Clinic, Ohio, USA.
Can J Gastroenterol. 2006 Aug;20(8):535-40. doi: 10.1155/2006/934098.
In the present clinical review, a diagnostic approach to hemochromatosis is discussed from the perspective of two clinicians with extensive experience in this area. The introduction of genetic testing and large-scale population screening studies have broadened our understanding of the clinical expression of disease and the utility of biochemical iron tests for the detection of disease and for the assessment of disease severity. Liver biopsy has become more of a prognostic test than a diagnostic test. The authors offer a stepwise, diagnostic algorithm based on current evidence-based data, that they regard as most cost-effective. An early diagnosis can lead to phlebotomy therapy to prevent the development of cirrhosis.
在本次临床综述中,两位在该领域经验丰富的临床医生从自身角度探讨了血色素沉着症的诊断方法。基因检测和大规模人群筛查研究的引入,拓宽了我们对该疾病临床症状的认识,以及生化铁检测在疾病检测和严重程度评估方面的作用。肝脏活检已更多地成为一种预后检测而非诊断检测。作者基于当前循证数据提供了一种逐步诊断算法,他们认为该算法最具成本效益。早期诊断可促使采用放血疗法预防肝硬化的发展。