Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study
Articles > Article · 2020
Authors: MURAT ÇAKIR, Elif Sag, Ali İŞLEK, Masallah Baran, GÖKHAN TÜMGÖR, Sema AYDOĞDU
Pediatric Gastroenterology, Hepatology & Nutrition, Journal Indexed in SCI Expanded, International, Scopus, 2020, vol 23, pp 146-146
DOI: 10.5223/pghn.2020.23.2.146
Summary
Purpose: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children.We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD.Methods: This study included patients with A1ATD from five pediatric hepatology units.Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25).Results: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%)had heterozygous genotype.Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001).Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8months vs. 23.7±30.1 months, p=0.192).Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic.Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic.Overall, 18 (72%) of the 25 children had liver pathology in the long-term.Conclusion: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels.Moreover, long-term follow-up is essential because most patients have a liver pathology.