Pediatr Gastroenterol Hepatol Nutr.  2020 Mar;23(2):146-153. 10.5223/pghn.2020.23.2.146.

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study

• Cakir M
• Sag E
• Islek A
• Baran M
• Tumgor G
• Aydogdu S

• KMID: 2471624
• DOI: http://doi.org/10.5223/pghn.2020.23.2.146

Abstract

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±6.8 months 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.

Keyword

Alpha-1 antitrypsin; Deficiency; Liver; Prognosis; Children

MeSH Terms

Child*
Demography
Fibrosis
Follow-Up Studies
Gastroenterology
Genetics
Genotype
Hepatitis, Chronic
Humans
Liver Diseases
Liver*
Pathology
Prevalence
Prognosis

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