Biomaterial Database

[Diagnostic problems in alpha 1-antitrypsin deficiency (author's transl)]. 1980

W Menzel, and H Moll

Diagnostic problems in alpha 1-antitrypsin deficiency are shown by a case report about a seven weeks old infant. The typical morphological changes in a liver biopsy were suspicious for alpha 1-antitrypsindeficiency. This diagnosis was eventually established by repetition of serum electrophoresis and quantitative dterminations. In addition to prognosis, problems of therapy, prophylaxis, early diagnosis and counselling of affected families are discussed.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D008297	Male		Males
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D001797	Blood Protein Electrophoresis	Electrophoresis applied to BLOOD PROTEINS.	Hemoglobin Electrophoresis,Electrophoresis, Blood Protein,Electrophoresis, Hemoglobin,Protein Electrophoresis, Blood
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001707	Biopsy, Needle	Removal and examination of tissue obtained through a transdermal needle inserted into the specific region, organ, or tissue being analyzed.	Aspiration Biopsy,Puncture Biopsy,Aspiration Biopsies,Biopsies, Aspiration,Biopsies, Needle,Biopsies, Puncture,Biopsy, Aspiration,Biopsy, Puncture,Needle Biopsies,Needle Biopsy,Puncture Biopsies
D019896	alpha 1-Antitrypsin Deficiency	Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.	Deficiencies, alpha 1-Antitrypsin,Deficiency, alpha 1-Antitrypsin,alpha 1 Antitrypsin Deficiency,alpha 1-Antitrypsin Deficiencies