[Hepatic cirrhosis and alpha 1-antitrypsin deficit: a family study].
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.
Raya Sańchez
J M
JM
Servicio de Medicina Interna, Hospital Universitario de Canarias, Tenerife.
González Reimers
E
E
Santolaria Fernández
F J
FJ
Moreno García
A
A
Abreu González
J
J
Méndez Medina
R
R
Hernández Nieto
L
L
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
Cirrosis hepática y déficit de alfa-1 antitripsina: estudio de una familia.