[Liver cirrhosis due in alpha-1-antitrypsinin deficiency and development of an arteriovenous shunts of the lungs].
A 10.5 year old girl with liver cirrhosis due to AAT-deficiency (Pi type ZZ) developed cyanosis and clubbing of finger and toes. Clinical aspect of a cyanotic heart disease appeared with 10 years, 7 years after diagnosis of cirrhosis. By contrast echocardiography existence of intrapulmonary arterio-venous shunts was demonstrated. When determined during the first year of life, serum-alpha-1-globulin-fraction of the patient was found to be normal. The result indicates, that even in severe AAT-deficiency of Pi type ZZ direct determination of AAT is necessary for diagnosis of the disease.
D001164:Arteriovenous Fistula / Q000209:etiology; D002648:Child; D003490:Cyanosis; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology*; D010005:Osteoarthropathy, Secondary Hypertrophic; D010641:Phenotype; D011651:Pulmonary Artery; D011667:Pulmonary Veins; D019896:alpha 1-Antitrypsin Deficiency
Leberzirrhose bei Alpha-1-Antitrypsin-Mangel und Entwicklung arteriovenöser shunts der Lungen.