| pubmed-article:6606121 | pubmed:abstractText | 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. | lld:pubmed |
