Biomaterial Database

Alpha-1-antitrypsin deficiency in a Southland family. 1975

R L Browne

After diagnosis of an alpha-1-antitrypsin deficiency in a patient with emphysema, three complete generations of his family were screened for the defect. Half of the 42 subjects had a defective phenotype (18 were MZ, two were ZZ, and one SZ). Of this group, five had other avoidable risk factors predisposing to emphysema, and a further 10 were children. The four oldest subjects had radiological evidence of emphysema. Patients at risk were advised to stop smoking and avoid occupational exposure to lung irritants.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009784	Occupational Diseases	Diseases caused by factors involved in one's employment.	Diseases, Occupational,Occupational Illnesses,Disease, Occupational,Illnesse, Occupational,Illnesses, Occupational,Occupational Disease,Occupational Illnesse
D011656	Pulmonary Emphysema	Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions.	Emphysema, Pulmonary,Centriacinar Emphysema,Centrilobular Emphysema,Emphysemas, Pulmonary,Focal Emphysema,Panacinar Emphysema,Panlobular Emphysema,Pulmonary Emphysemas,Centriacinar Emphysemas,Centrilobular Emphysemas,Emphysema, Centriacinar,Emphysema, Centrilobular,Emphysema, Focal,Emphysema, Panacinar,Emphysema, Panlobular,Emphysemas, Centriacinar,Emphysemas, Centrilobular,Emphysemas, Focal,Emphysemas, Panacinar,Emphysemas, Panlobular,Focal Emphysemas,Panacinar Emphysemas,Panlobular Emphysemas
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006720	Homozygote	An individual in which both alleles at a given locus are identical.	Homozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults