O'Sullivan E P, McDermott J H, Murphy M S, Sen S, Walsh C H
Department of Diabetes and Endocrinology, South Infirmary Victoria University Hospital, Old Blackrock Road, Cork, Ireland.
Diabetes Res Clin Pract. 2008 Sep;81(3):316-20. doi: 10.1016/j.diabres.2008.05.001. Epub 2008 Jun 18.
The aims of this study were to describe the prevalence and clinical features of diabetes in hereditary haemochromatosis (HH), with particular emphasis to how this has changed since the introduction of genetic testing in 1996.
Two hundred and thirty-seven patients were diagnosed with HH (based on elevated iron indices and liver biopsy or genetic testing) by a single physician, and all biochemical and clinical data recorded from diagnosis to the end of the study.
The prevalence of diabetes (21.9%) was lower than most previously published studies. There was a significantly greater prevalence of diabetes and cirrhosis in those diagnosed before the introduction of genetic testing, p<0.001. The type of genetic mutation for HH, degree of ferritin elevation at diagnosis, or the presence of cirrhosis was not predictive for the development of diabetes. Iron depletion did not result in an improvement in glycaemic control or reduction in insulin requirements in the majority of patients.
This is one of the largest published series of diabetes in HH. Because the occurrence of diabetes in patients with HH reduces life expectancy, our finding of a lower prevalence of diabetes is expected to translate into a greater survival rate in these patients.
本研究旨在描述遗传性血色素沉着症（HH）中糖尿病的患病率及临床特征，尤其着重于自1996年引入基因检测以来情况有何变化。
由一位医生诊断出237例HH患者（基于铁指标升高及肝活检或基因检测），记录从诊断到研究结束的所有生化和临床数据。
糖尿病患病率（21.9%）低于大多数先前发表的研究。在引入基因检测之前被诊断出的患者中，糖尿病和肝硬化的患病率显著更高，p<0.001。HH的基因突变类型、诊断时铁蛋白升高程度或肝硬化的存在并不能预测糖尿病的发生。在大多数患者中，铁耗竭并未导致血糖控制改善或胰岛素需求减少。
这是已发表的关于HH中糖尿病的最大系列研究之一。由于HH患者中糖尿病的发生会降低预期寿命，我们发现糖尿病患病率较低，预计这些患者的生存率会更高。
