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Eur J Gastroenterol Hepatol. 2018 Jul;30(7):774-778. doi: 10.1097/MEG.0000000000001108.

Retrospective analysis of children with α-1 antitrypsin deficiency.

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Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.



α-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder. The association among classical α-1 antitrypsin deficiency (AATD), chronic liver disease, and cirrhosis is common in adult patients but rare in children.


To assess the clinical characteristics of children with AATD and to compare symptoms between homozygous and heterozygous children.


The study included 20 children who were found to have mutant Pi alleles. AAT phenotyping was conducted on patients with a low serum AAT level. The exclusion criteria included infectious, anatomic, and metabolic conditions. Symptoms on presentation, physical examination findings, laboratory values, liver biopsy results, and follow-up periods were recorded for each patient.


The patients included six (30%) girls and 14 (70%) boys, with a mean age of 6.3±5.1 (1-16) years. The PiZZ phenotype was present in eight (40%) and PiMZ in 12 (60%) patients. The most frequent symptom was elevated liver function test results. Three patients were referred with neonatal cholestasis and one with compensated cirrhosis. Eight patients underwent liver biopsy; all patients except one had periodic acid-Schiff-positive diastase-resistant globules in the hepatocytes. The mean follow-up period was 34±33 (12-101) months. At the end of follow-up, all patients with PiZZ were found to have chronic hepatitis, and one with cirrhosis. On the contrary, two patients with PiMZ were found to have chronic hepatitis.


Children with classical AATD commonly have chronic liver disease. In heterozygous (PiMZ) children with AATD, enzyme levels can normalize with occasional fluctuations, sometimes causing delayed diagnosis.

[Indexed for MEDLINE]

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