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

Cakir Murat, Sag Elif, Islek Ali, Baran Masallah, Tumgor Gokhan, Aydogdu Sema,
소속 상세정보
 ( Cakir Murat ) - Karadeniz Technical University Faculty of Medicine Department of Pediatric Gastroenterology Hepatology and Nutrition
 ( Sag Elif ) - Karadeniz Technical University Faculty of Medicine Department of Pediatric Gastroenterology Hepatology and Nutrition
 ( Islek Ali ) - Ataturk University Faculty of Medicine Department of Pediatric Gastroenterology Hepatology and Nutrition
 ( Baran Masallah ) - Katip Celebi University Faculty of Medicine Department of Pediatric Gastroenterology Hepatology and Nutrition
 ( Tumgor Gokhan ) - Cukurova University Faculty of Medicine Department of Pediatric Gastroenterology Hepatology and Nutrition
 ( Aydogdu Sema ) - Ege University Faculty of Medicine Department of Pediatric Gastroenterology Hepatology and Nutrition

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.

키워드

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

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