Journal of Clinical Pediatrics and Neonatal Care

Alpha-1-Antitrypsin Deficiency in Children: Clinical Impact of the Liver Involvement

Published on: 2014-08-09


Introduction: Alpha-1-antitrypsin deficiency (AATD) is one of the most common genetic disorders causing pulmonary and hepatic damage. In practice, diagnosis is often too late, when pulmonary destruction or liver damage has become irreversible. There is clear evidence in the literature that affected patients present with clinical and laboratory signs in the neonatal period. We analyzed a large cohort of AATD pediatric patients in order to asses signs and symptoms leading to diagnosis. Furthermore, the hepatological follow-up examination should be evaluated with regard to analyze predictive parameters for the prognosis of liver disease.

Methods: Data from 109 children and adolescents presenting in our outpatient clinic from 1995 to 2009 were retrospectively analyzed. We also prospectively sent 85 questionnaires to families with at least one child with AATD to assess the need for follow-up examinations and testing of siblings.

Results: The genotype distribution was: PI-ZZ, n = 58; PI-MZ, n = 41; PI-MS, n = 6; PI-SZ, n = 4. 39 of 58 homozygotes had elevated liver enzymes and 17 had pathologic findings on hepatic ultrasound. Over half of the retrospectively analysed patients had neonatal signs of AATD. 50 questionnaires were returned revealing the existence of 43 siblings of the 16 heterozygotes and 34 homozygotes patients. Prior to our intervention, only 28 of these 43 siblings had been tested for AATD. We newly diagnosed 2 homozygous and 7 heterozygous siblings. Conclusion: Results show that AATD is still highly underdiagnosed, even though it can easily be detected by pediatricians during the neonatal period. Family care and advice should be improved because an unacceptably high percentage of siblings of AATD patients do not receive AATD diagnostic testing, despite there being an index patient in the family. General awareness of AATD should be increased and a neonatal screening should be discussed more intensively.


Alpha-1-Antitrypsin Deficiency; Liver Disease; Diagnosis; Neonatal Cholestasis