de Geus H R H, Dees A
Department of Intensive Care, Erasmus Medical Centre, Rotterdam, the Netherlands.
Neth J Med. 2006 Sep;64(8):307-9.
Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues. Sometimes this disease presents as a cutanea porphyria. We describe a patient with joint complaints and blistering skin lesions on sun-exposed skin. After identifying the porphyria cutanea tarda by urine analysis we found that the serum activity of uroporphyrinogen decarboxylase (UROD) was normal, meaning a partial inactivation of UROD in liver tissue due to external factors. Further investigation showed the homozygous Cys282Tyr missense mutation and high levels of serum ferritin. It is important to recognise the symptoms of iron overloading at an early stage because hereditary haemochromatosis needs to be treated immediately. We therefore advocate routine sampling of ferritin levels in patients with unexplained joint complaints.
血色素沉着症是一种遗传性铁过载综合征，由肠道铁吸收增加引起，其特征是潜在毒性的铁在组织中蓄积。有时这种疾病表现为皮肤卟啉症。我们描述了一名患者，有关节不适以及暴露于阳光下的皮肤出现水疱性皮损。通过尿液分析确诊为迟发性皮肤卟啉症后，我们发现尿卟啉原脱羧酶（UROD）的血清活性正常，这意味着由于外部因素导致肝脏组织中UROD部分失活。进一步检查显示存在纯合子Cys282Tyr错义突变以及血清铁蛋白水平升高。早期识别铁过载症状很重要，因为遗传性血色素沉着症需要立即治疗。因此，我们主张对有不明原因关节不适的患者常规检测铁蛋白水平。
