Literature DB >> 6604688

Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband.

S Anand, R R Schade, C Bendetti, R Kelly, B S Rabin, J Krause, T E Starzl, S Iwatsuki, D H Van Thiel.   

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.

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Mesh：

Year:  1983        PMID： 6604688      PMCID： PMC3033118          DOI： 10.1002/hep.1840030515

Source DB:  PubMed          Journal:  Hepatology        ISSN： 0270-9139            Impact factor:   17.425


  20 in total

1.  Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.

Authors:  M Simon; M Bourel; B Genetet; R Fauchet
Journal:  N Engl J Med       Date:  1977-11-10       Impact factor: 91.245

2.  Heredity of idiopathic haemochromatosis: a study of 106 families.

Authors:  M Simon; J L Alexandre; M Bourel; B Le Marec; C Scordia
Journal:  Clin Genet       Date:  1977-05       Impact factor: 4.438

3.  Smoking and intermediate alpha1-antitrypsin deficiency and lung function in middle-aged men.

Authors:  C Larsson; S Eriksson; H Dirksen
Journal:  Br Med J       Date:  1977-10-08

4.  Method for the determination of unsaturated iron-binding capacity of serum using radioactive iron and magnesium carbonate.

Authors:  B Brozovich
Journal:  J Clin Pathol       Date:  1968-03       Impact factor: 3.411

5.  Pi-Z phenotypes in a pulmonary clinic. Their prevalence and physiologic state.

Authors:  A A Gerblich; J Kleinerman; D J Rynbrandt; E H Chester; J Ihrig
Journal:  Am J Clin Pathol       Date:  1978-05       Impact factor: 2.493

6.  Alpha-antitrypsin deficiency. Experience from an autopsy material.

Authors:  I Reintoft
Journal:  Acta Pathol Microbiol Scand A       Date:  1977-09

7.  Histocompatibility antigens as markers of abnormal iron metabolism in patients with idiopathic haemochromatosis and their relatives.

Authors:  A Bomford; A L Eddleston; L A Kennedy; J R Batchelor; R Williams
Journal:  Lancet       Date:  1977-02-12       Impact factor: 79.321

8.  A new method for determination of alpha-1-antitrypsin phenotypes using isoelectric focusing on polyacrylamide gel slabs.

Authors:  R C Allen; R A Harley; R C Talamo
Journal:  Am J Clin Pathol       Date:  1974-12       Impact factor: 2.493

9.  [Alpha-1-antitrypsin deficiency. Phenotype study of 60 members of the same family].

Authors:  B Saugier; C Chapuis-Cellier; A Emonot; P Vittoz; P Galy
Journal:  Sem Hop       Date:  1977-02-16

10.  An immunoradiometric assay for ferritin in the serum of normal subjects and patients with iron deficiency and iron overload.

Authors:  G M Addison; M R Beamish; C N Hales; M Hodgkins; A Jacobs; P Llewellin
Journal:  J Clin Pathol       Date:  1972-04       Impact factor: 3.411
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  2 in total

1.  Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

Authors:  Benedikt Schaefer; David Haschka; Armin Finkenstedt; Britt-Sabina Petersen; Igor Theurl; Benjamin Henninger; Andreas R Janecke; Chia-Yu Wang; Herbert Y Lin; Lothar Veits; Wolfgang Vogel; Günter Weiss; Andre Franke; Heinz Zoller
Journal:  Hum Mol Genet       Date:  2015-08-26       Impact factor: 6.150

2.  Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.

Authors:  A N Elzouki; R Hultcrantz; P Stål; R Befrits; S Eriksson
Journal:  Gut       Date:  1995-06       Impact factor: 23.059
  2 in total

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