Lung disease and alpha-1-antitrypsin deficiency in childhood. Is the alpha-1-antitrypsin deficiency the cause of the lung diseases in the early childhood?

Two patients with a-1-antitrypsin deficiency are presented. The first patient, a four year old girl, had a massive pneumothorax on the right side during an acute respiratoric infection. Electrophoresis of serum proteins showed a reduction in size of the a-1-globulin peak; a-1-AT concentration in serum was 0,53 g/L. Phenotyping and genotyping confirmed homozygous PiZZ form in the girl and heterozygous PiMZ form in her parents and brother. Elevated aminotranspherases and cholinesterase activities in our patient indicated at liver disease. The second patient and his family had decreased serum a-1-AT concentration (phenotyping and genotyping could not carried out because the patient, as a displaced person during the war, left the country), so it might be possible that the patient, who suffered from hay fever and asthma, also had inhereted a-1-AT deficiency.
Category: Case report
Volume: Vol. 43, No 3, july - september 1999
Authors: M. Raos, S. Dodig, S. Bela Klancir, I. Žuntar, A. Tešija, E. Topić
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