title: Infantile alpha 1 antitrypsin deficiency: a case report.
abstract: Using a case study format, the authors describe an infant with an unusual metabolic disorder, Alpha 1 Antitrypsin Deficiency. It is rare to find an infant in whom such significant liver and pulmonary disease develops before his first birthday. In this article the authors describe the pathophysiology, genetics, diagnosis, and treatment of this disorder. The nursing diagnoses alteration in nutrition, alteration in skin integrity, ineffective airway clearance, and potential for ineffective family coping are the framework used to describe the nursing care.
authors.forename: C F
authors.initials: CF
authors.lastname: Tinstman
authors.forename: J
authors.initials: J
authors.lastname: Crimlisk
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000451:nursing*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009733:Nursing Diagnosis; D019896:alpha 1-Antitrypsin Deficiency