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Literature DB >> 2588214

Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study.

C P Kelly¹, D N Tyrrell, G S McDonald, D B Whitehouse, J S Prichard.

Abstract

A patient with advanced emphysema and cor pulmonale had the changes of alpha 1 antitrypsin deficiency in a liver biopsy specimen and was shown to have the phenotype PiFZ. This case supports the contention that the F allele of alpha 1 antitrypsin predisposes to the development of emphysema, particularly when it occurs in conjunction with the Z allele.

Entities: Disease Gene Species

Mesh：

Year: 1989 PMID： 2588214 PMCID： PMC462061 DOI： 10.1136/thx.44.9.758

Source DB: PubMed Journal: Thorax ISSN： 0040-6376 Impact factor: 9.139

8 in total

Review 1. alpha-1-Antitrypsin and the pathogenesis of emphysema.

Authors: R A Stockley
Journal: Lung Date: 1987 Impact factor: 2.584

2. Cirrhosis and heterozygous FZ alpha1-antitrypsin deficiency in an adult. Case report and review of the literature.

Authors: B Brand; G H Bezahler; R Gould
Journal: Gastroenterology Date: 1974-02 Impact factor: 22.682

3. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.

Authors: H L Sharp; R A Bridges; W Krivit; E F Freier
Journal: J Lab Clin Med Date: 1969-06

4. Serum prealbumin: polymorphism in man.

Authors: M K Fagerhol; M Braend
Journal: Science Date: 1965-08-27 Impact factor: 47.728

5. [The Pi system, its genetics and its relations with diseases].

Authors: M K Fagerhol
Journal: Poumon Coeur Date: 1971

6. Is the PiF allele of alpha 1-antitrypsin associated with pulmonary disease?

Authors: G Beckman; N L Stjernberg; A Eklund
Journal: Clin Genet Date: 1984-06 Impact factor: 4.438

7. Pulmonary emphysema associated with the FZ alpha 1-antitrypsin phenotype.

Authors: D W Cockcroft; R K Tennent; S L Horne
Journal: Can Med Assoc J Date: 1981-03-15 Impact factor: 8.262

8. Alpha 1 antitrypsin deficiency: clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association.

Authors: D C Hutchison; M J Tobin; P J Cook
Journal: Br J Dis Chest Date: 1983-01

8 in total

4 in total

Heterozygous FZ alpha 1 antitrypsin deficiency associated with severe emphysema and hepatic disease: case report and family study.

Review 1. alpha-1-Antitrypsin and the pathogenesis of emphysema.

2. Cirrhosis and heterozygous FZ alpha1-antitrypsin deficiency in an adult. Case report and review of the literature.

3. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.

4. Serum prealbumin: polymorphism in man.

5. [The Pi system, its genetics and its relations with diseases].

6. Is the PiF allele of alpha 1-antitrypsin associated with pulmonary disease?

7. Pulmonary emphysema associated with the FZ alpha 1-antitrypsin phenotype.

8. Alpha 1 antitrypsin deficiency: clinical and physiological features in heterozygotes of Pi type SZ. A survey by the British Thoracic Association.

1. Characterization of the molecular basis of the alpha 1-antitrypsin F allele.

Review 2. Alpha 1-antitrypsin deficiency and liver disease: clinical presentation, diagnosis and treatment.

3. α-1-antitrypsin variants and the proteinase/antiproteinase imbalance in chronic obstructive pulmonary disease.

4. The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote.