Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study
Murat Cakir1, Elif Sag1, Ali Islek2
1Department of Pediatric Gastroenterology Hepatology and Nutrition, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Insights
Alpha-1 antitrypsin deficiency (A1ATD) is a genetic cause of pediatric liver disease. Most children with A1ATD develop liver pathology, necessitating early screening and long-term monitoring.
Area of Science:
- Pediatric Hepatology
- Genetic Liver Diseases
- Alpha-1 Antitrypsin Deficiency
Background:
- Alpha-1 antitrypsin deficiency (A1ATD) is a significant genetic factor contributing to pediatric liver disease.
- Early identification and management are crucial for improving outcomes in affected children.
Purpose of the Study:
- To investigate the clinical characteristics and long-term outcomes of pediatric patients diagnosed with A1ATD.
- To analyze the differences in presentation and progression between homozygous (PiZZ) and heterozygous (PiMZ) genotypes.
Main Methods:
- A retrospective study involving 25 pediatric patients with A1ATD from five specialized hepatology centers.
- Data collected included demographics, clinical manifestations, genetic findings (PiZZ vs. PiMZ), and patient outcomes.
Main Results:
- The PiZZ genotype was associated with significantly lower alpha-1 antitrypsin levels compared to the PiMZ genotype (37.6 vs. 66.5 mg/dL).
- A majority of patients (72%) exhibited long-term liver pathology, including chronic hepatitis and cirrhosis.
- One patient with the PiZZ genotype died, highlighting the potential severity of the condition.
Conclusions:
- Screening for alpha-1 antitrypsin levels is recommended for children with liver disorders, even if A1ATD is considered rare.
- Long-term follow-up is critical for managing the liver complications associated with A1ATD in pediatric patients.
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.
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