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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.

Author information

1
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

Abstract

BACKGROUND:

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.

AIM:

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

MATERIALS AND METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.

PMID:
29505478
DOI:
10.1097/MEG.0000000000001108
[Indexed for MEDLINE]

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