title: [Alpha-1 antitrypsin deficiency in infancy and childhood].
abstract: We present our experience with 5 pediatric patients, 3 males and 2 females, with alpha 1 antitrypsin deficiency. These patients were between the ages of 15 months and 8 years and 4 were of the PI ZZ phenotype and 1 of the PI SZ phenotype. All cases presented with liver disease (neonatal cholestasis, cirrhosis, hepatitis). We comment on the different clinical forms of this entity during childhood, most of which are liver diseases, whereas in the adult it is generally manifest as lung disease.
authors.affiliation: Unidad de Gastroenterología, Hospital Niño Jesús, Madrid.
authors.forename: M
authors.initials: M
authors.lastname: Santos Tapia
authors.forename: M
authors.initials: M
authors.lastname: Sánchez Mateos
authors.forename: M
authors.initials: M
authors.lastname: Gimeno Aranguez
authors.forename: J
authors.initials: J
authors.lastname: Martínez Gómez
authors.forename: D
authors.initials: D
authors.lastname: García Novo
mesh_terms: D002648:Child; D002675:Child, Preschool; D003677:Deficiency Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011296:Prenatal Diagnosis; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Déficit de alfa 1 antitripsina en la infancia.