ArticlePediatric gastroenterology, hepatology & nutrition2020
Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study.
Article in Pediatric gastroenterology, hepatology & nutrition, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Pediatric Cholestasis: A Practical Approach to Histological Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common.Turkish journal of medical sciences · 2022Article
- [Neonatal Cholestasis: A Narrative Review of the Working Group of the Latin American Society of Pediatric Gastroenterology, Hepatology and Nutrition].Acta gastroenterologica LatinoamericanaReview
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Authors and funding
6 authors.
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Abstract
purposeAlpha-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.
methodsThis study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25).
resultsEight 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,
conclusionAlthough 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.
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