title: [Hepatic cirrhosis and alpha 1-antitrypsin deficit: a family study].
abstract: Hepatic cirrhosis secondary to deficit of alpha-1 antitrypsin is an entity rarely observed among the adult population. We describe the clinical and histological characteristics of a patient with PiZZ phenotype, affected by an hepatic cirrhosis of this etiology, as well as the analytical and phenotypical study of his close relatives, all of which presented a type-Z mutation.
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario de Canarias, Tenerife.
authors.forename: J M
authors.initials: JM
authors.lastname: Raya Sańchez
authors.forename: E
authors.initials: E
authors.lastname: González Reimers
authors.forename: F J
authors.initials: FJ
authors.lastname: Santolaria Fernández
authors.forename: A
authors.initials: A
authors.lastname: Moreno García
authors.forename: J
authors.initials: J
authors.lastname: Abreu González
authors.forename: R
authors.initials: R
authors.lastname: Méndez Medina
authors.forename: L
authors.initials: L
authors.lastname: Hernández Nieto
mesh_terms: D000328:Adult; D003677:Deficiency Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Cirrosis hepática y déficit de alfa-1 antitripsina: estudio de una familia.