To report a case of recurrent acute pancreatitis in a pediatric patient caused by severe hypertriglyceridemia due to citrin deficiency, highlighting its clinical significance.
Key Findings:
The patient had severe hypertriglyceridemia (28.96 mmol/L) and recurrent acute pancreatitis, emphasizing the need for dietary management.
Genetic testing revealed compound heterozygous mutations in the SLC25A13 gene.
Dietary adherence issues led to recurrent hospitalizations for pancreatitis, underscoring the importance of dietary compliance.
Interpretation:
Citrin deficiency should be considered in children with recurrent acute pancreatitis and severe hypertriglyceridemia, particularly when dietary preferences include carbohydrate aversion, which complicates management.
Limitations:
The case is based on a single patient, limiting generalizability.
Long-term dietary adherence and its impact on health outcomes were not fully assessed, indicating a need for further research.
Conclusion:
This case highlights the complexity of citrin deficiency and its potential to present with severe hypertriglyceridemia and recurrent pancreatitis in children, emphasizing the role of dietary habits in management.
Analyses by treatment timing, cumulative dose, and stunting supported the overall finding, though early-initiation and female subgroup data were limited.
A prespecified exploratory analysis of the FIND-CKD clinical trial examined kidney function, albuminuria, and kidney failure outcomes in 903 patients with glomerular diseases.
