Actual aspects in diagnosis of hereditary hemochromatosis

被引：0

作者：

Raddatz, D ^{[1
]}

Ramadori, G ^{[1
]}

机构：

[1] Univ Gottingen, Med Klin, Zentrum Innere Med, Abt Gastroenterol & Endokrinol, D-37075 Gottingen, Germany

来源：

LEBER MAGEN DARM | 1998年 / 28卷 / 05期

关键词：

hereditary hemochromatosis; diagnosis; molecular biology; genetics; pathophysiology;

D O I：

暂无

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Hereditary hemochromatosis is one of the most frequent inherited diseases. It is determined by an increased intestinal absorption with consecutive iron overload and loss of function of different parenchymal organs as liver and pancreas. In case of early diagnosis and therapy prognosis of hereditary hemochromatosis is excellent. The recent discovery of the hereditary hemochromatosis candidate gene HLA-H and the availability of a genetic test open new aspects in the diagnosis of the disease which will be reviewed here.

引用

页码：203 / 206

页数：4

共 18 条

[1] Alcoholism in hereditary hemochromatosis revisited: Prevalence and clinical consequences among homozygous siblings [J].

Adams, PC ;

Agnew, S .

HEPATOLOGY, 1996, 23 (04) :724-727

[2] Diagnosis and management of hemochromatosis [J].

Bacon, BR .

GASTROENTEROLOGY, 1997, 113 (03) :995-999

[3] VALUE OF HEPATIC IRON MEASUREMENTS IN EARLY HEMOCHROMATOSIS AND DETERMINATION OF THE CRITICAL IRON LEVEL ASSOCIATED WITH FIBROSIS [J].

BASSETT, ML ;

HALLIDAY, JW ;

POWELL, LW .

HEPATOLOGY, 1986, 6 (01) :24-29

[4]

Beutler Ernest, 1996, Blood Cells Molecules and Diseases, V22, P187, DOI 10.1006/bcmd.1996.0027

[5] IRON OVERLOAD IN BETA(2)-MICROGLOBULIN-DEFICIENT MICE [J].

DESOUSA, M ;

REIMAO, R ;

LACERDA, R ;

HUGO, P ;

KAUFMANN, SHE ;

PORTO, G .

IMMUNOLOGY LETTERS, 1994, 39 (02) :105-111

[6] PREVALENCE OF HEMOCHROMATOSIS AMONG 11,065 PRESUMABLY HEALTHY BLOOD-DONORS [J].

EDWARDS, CQ ;

GRIFFEN, LM ;

GOLDGAR, D ;

DRUMMOND, C ;

SKOLNICK, MH ;

KUSHNER, JP .

NEW ENGLAND JOURNAL OF MEDICINE, 1988, 318 (21) :1355-1362

[7] A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [J].

Feder, JN ;

Gnirke, A ;

Thomas, W ;

Tsuchihashi, Z ;

Ruddy, DA ;

Basava, A ;

Dormishian, F ;

Domingo, R ;

Ellis, MC ;

Fullan, A ;

Hinton, LM ;

Jones, NL ;

Kimmel, BE ;

Kronmal, GS ;

Lauer, P ;

Lee, VK ;

Loeb, DB ;

Mapa, FA ;

McClelland, E ;

Meyer, NC ;

Mintier, GA ;

Moeller, N ;

Moore, T ;

Morikang, E ;

Prass, CE ;

Quintana, L ;

Starnes, SM ;

Schatzman, RC ;

Brunke, KJ ;

Drayna, DT ;

Risch, NJ ;

Bacon, BR ;

Wolff, RK .

NATURE GENETICS, 1996, 13 (04) :399-408

[8] The hemochromatosis founder mutation in HLA-H disrupts beta(2)-microglobulin interaction and cell surface expression [J].

Feder, JN ;

Tsuchihashi, Z ;

Irrinki, A ;

Lee, VK ;

Mapa, FA ;

Morikang, E ;

Prass, CE ;

Starnes, SM ;

Wolff, RK ;

Parkkila, S ;

Sly, WS ;

Schatzman, RC .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (22) :14025-14028

[9]

GOLLAN JL, 1983, GASTROENTEROLOGY, V84, P418

[10]

Jazwinska EC, 1996, NAT GENET, V14, P249, DOI 10.1038/ng1196-249

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