迟发性皮肤卟啉病与血色素沉着症：一项家族研究。
Porphyria cutanea tarda and haemochromatosis: a family study.
作者信息
Seymour D G, Elder G H, Fryer A, Jacobs A, Williams G T
机构信息
University of Wales College of Medicine, University Hospital of Wales, Heath Park, Cardiff.
出版信息
Gut. 1990 Jun;31(6):719-21. doi: 10.1136/gut.31.6.719.
A female patient aged 73 presented with a history of general malaise and hyperpigmentation. Iron studies in the patient and immediate family members indicated that the proband was homozygous for haemochromatosis, but subsequent investigations revealed that porphyria cutanea tarda was responsible for her signs and symptoms. Venesection of four units of blood brought her symptoms under control. The interplay between porphyria cutanea tarda and excess iron deposition is discussed as is the role of extending investigations to first and second degree relatives when either haemochromatosis or porphyria cutanea tarda is suspected.
一名73岁女性患者有全身不适和色素沉着病史。对该患者及其直系亲属进行的铁代谢检查表明，先证者为血色素沉着症纯合子，但随后的检查显示，迟发性皮肤卟啉症是其症状和体征的病因。放血4单位使她的症状得到控制。文中讨论了迟发性皮肤卟啉症与铁沉积过多之间的相互作用，以及在怀疑患有血色素沉着症或迟发性皮肤卟啉症时对一级和二级亲属进行进一步检查的作用。
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