血色素沉着症的 myths 与真相。 （注：这里“myths”直译为“神话、虚构之事”，结合语境可灵活意译为更合适表述）
The myths and realities of hemochromatosis.
作者信息
Beaton Melanie D, Adams Paul C
机构信息
Department of Medicine, London Health Sciences Centre, 339 Windermere Road, London, Ontario, Canada.
出版信息
Can J Gastroenterol. 2007 Feb;21(2):101-4. doi: 10.1155/2007/619401.
Abstract
Hemochromatosis is a common genetic condition and yet there are still a number of misperceptions surrounding the diagnosis and management of this condition. Hemochromatosis affects both men and women. Typical patients do not have alcoholism or viral hepatitis, and often have normal liver enzymes. Clinical expression is highly variable. Genetic testing is widely available and particularly useful in family studies. Hemochromatosis can be readily diagnosed and treated. The purpose of the present review is to address the medical myths and misconceptions of hemochromatosis.
摘要
血色素沉着症是一种常见的遗传性疾病，但围绕该疾病的诊断和管理仍存在一些误解。血色素沉着症对男性和女性都会产生影响。典型患者没有酗酒或病毒性肝炎，且肝酶通常正常。临床表现差异很大。基因检测广泛可用，在家族研究中尤其有用。血色素沉着症可以很容易地被诊断和治疗。本综述的目的是探讨关于血色素沉着症的医学神话和误解。
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本文引用的文献
1
The diversity of liver diseases among outpatient referrals for an elevated serum ferritin.
Can J Gastroenterol. 2006 Jul;20(7):467-70. doi: 10.1155/2006/357340.
2
Liver diseases in the hemochromatosis and iron overload screening study.
Clin Gastroenterol Hepatol. 2006 Jul;4(7):918-23; quiz 807. doi: 10.1016/j.cgh.2006.04.013.
3
Targeted screening for genetic haemochromatosis: a combined phenotype/genotype approach.
J Clin Pathol. 2006 May;59(5):501-4. doi: 10.1136/jcp.2005.031898.
4
Prognostic factors and survival in patients with hereditary hemochromatosis and cirrhosis.
Can J Gastroenterol. 2006 Apr;20(4):257-60. doi: 10.1155/2006/428048.
5
Hemochromatosis case definition: out of focus?
Nat Clin Pract Gastroenterol Hepatol. 2006 Apr;3(4):178-9. doi: 10.1038/ncpgasthep0465.
6
High prevalence of abnormal glucose homeostasis secondary to decreased insulin secretion in individuals with hereditary haemochromatosis.
Diabetologia. 2006 Jul;49(7):1661-9. doi: 10.1007/s00125-006-0200-0. Epub 2006 Mar 15.
7
Screening for hemochromatosis in asymptomatic subjects with or without a family history.
Arch Intern Med. 2006 Feb 13;166(3):294-301. doi: 10.1001/archinte.166.3.294.
8
HFE genotypes in decompensated alcoholic liver disease: phenotypic expression and comparison with heavy drinking and with normal controls.
Am J Gastroenterol. 2006 Feb;101(2):304-10. doi: 10.1111/j.1572-0241.2006.00439.x.
9
Iron in nonhemochromatotic liver disorders.
Semin Liver Dis. 2005 Nov;25(4):461-72. doi: 10.1055/s-2005-923317.
10
Patient acceptability of genotypic testing for hemochromatosis in primary care.
Genet Med. 2005 Oct;7(8):557-63. doi: 10.1097/01.gim.0000177531.53338.65.
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