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代谢病

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国外科技资料目录（医药卫生） 1999年第1期 57-58页

9901168 Prader-Willi综合征:现代实验诊断法[俄,英摘]-1997,(5).-50～53 友谊医 9901169 无症状性血脂过多及其对策[日]/石川俊次∥临床成人病.-1997,27(2).-294～298

关键词：血脂过多代谢病无症状性实验诊断友谊综合征遗传性血色素沉着病高钙血症鉴别诊断对策

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人类第6号染色体成功破译

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中国优生与遗传杂志 2003年第S2期11卷 94-94页

英国一科学家在10月23日出版的《Nature》杂志上,报告了他们8年的努力,破译了迄今为止,基因包含最多的染色体,这条染色体1.66亿个碱基对中;在2190个基因结构中有1557个功能基因,约占人类基因总数的6％。

关键词： 6号染色体人类基因总数基因与疾病 Y染色体功能基因遗传性血色素沉着病基因结构碱基对《Nature》痈病

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氨苯砜与肝铁质沉着病(法语)

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世界核心医学期刊文摘（皮肤病学分册） 2006年第12期2卷 54-页

作者： Darrieux L. Adamski H Turlin B. 王琼 Service de Dermatologie CHU Pontchaillou rue H. Le Guilloux 35033 Rennes Cedex

Background. DisuloneTM （dapsone +iron oxalate） is a sulfone used in the treatment of numerous skin diseases. We report two cases of hepatosiderosis secondary to long-term administration of DisuloneTM. Patients and methods. Case n1. A 51-year-old manwas treated with DisuloneTM for a neutrophilic skin disease. After 17 years of treatment, elevated serumferritin and free iron with hemolysis were found. Liver biopsy confirmed hepatosiderosis. A diagnosis of genetic hemochromatosis was ruled out by the absence of C282Y mutation of the HFE gene. Case n2. A 52-year-old man receiving DisuloneTM for dermatitis herpetiformis for 25 years presented elevated serumferritin and free iron with hemolysis. Hepatic iron overload was confirmed by liver biopsy. The absence of C282Y mutation （HFE gene）-ruled out a diagnosis of genetic hemochromatosis. Discussion. In our two cases, hepatosiderosis was noted after long-term administration of DisuloneTM. This complication has been reported only rarely. In murine models, a relationship was found between prolonged administration of dapsone and hepatic iron overload as revealed by hemolysis. Although it is difficult to extrapolate this relationship to humans with any certainty, our patients had also chronic hemolysis and iron overload secondary to administration of DisuloneTM. Moreover in France, dapsone is marketed in combination with iron oxalate, with the attendant risk of iron overload. These cases raise the question of the need for serum ferritin analysis during DisuloneTM therapy.

关键词：氨苯砜 TM 患者血清铁蛋白病例苯胺铁超负荷遗传性血色素沉着病