特发性血色素沉着症与α-1抗胰蛋白酶缺乏症：在先证者患有进行性肝病的一个家族中的共存情况。
Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.
作者信息
Anand S, Schade R R, Bendetti C, Kelly R, Rabin B S, Krause J, Starzl T E, Iwatsuki S, Van Thiel D H
出版信息
Hepatology. 1983 Sep-Oct;3(5):714-8. doi: 10.1002/hep.1840030515.
Abstract
A patient with coexistent hemochromatosis and alpha-1-antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others with alpha-1-antitrypsin deficiency but none with both conditions. The role of family studies in the early recognition and possible prevention of overt clinical disease in individuals with either of these two genetic diseases is discussed.
摘要
报告了一名同时患有血色素沉着症和α-1抗胰蛋白酶缺乏症的患者，尽管对血色素沉着症进行了充分治疗，但仍导致肝硬化并死亡。对其家族的评估发现，一级亲属中有铁过载患者，也有α-1抗胰蛋白酶缺乏症患者，但没有同时患有这两种疾病的。本文讨论了家族研究在早期识别以及可能预防这两种遗传疾病患者发生明显临床疾病方面的作用。
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Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.特发性血色素沉着症与α-1抗胰蛋白酶缺乏症：在先证者患有进行性肝病的一个家族中的共存情况。
Hepatology. 1983 Sep-Oct;3(5):714-8. doi: 10.1002/hep.1840030515.
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N Engl J Med. 1980 Jan 31;302(5):272-5. doi: 10.1056/NEJM198001313020505.
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Hemochromatosis: 1980 update.血色素沉着症：1980年最新情况
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Four-year-old children with alpha 1-antitrypsin deficiency. Clinical follow-up and parental attitudes towards neonatal screening.患有α1-抗胰蛋白酶缺乏症的4岁儿童。临床随访及家长对新生儿筛查的态度。
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