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Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory
Tatiana N Yuzyuk1, Heather A Nelson1, Lisa M Johnson2
1Department of Pathology, University of Utah/ARUP Laboratories, Salt Lake City, UT, USA.
Insights
Pediatric exocrine pancreatic insufficiency (EPI) presents with digestive issues and malnutrition. Diagnosis is challenging due to limitations in current pancreatic function testing methods.
Area of Science:
- Pediatric Gastroenterology
- Pancreatic Disorders
- Genetic Diseases
Background:
- Exocrine pancreatic insufficiency (EPI) in children causes abdominal pain, weight loss, malnutrition, and steatorrhea.
- EPI can be congenital or acquired due to genetic disorders like cystic fibrosis (CF), hereditary pancreatitis, Pearson syndrome, and Shwachman-Diamond syndrome.
Purpose of the Study:
- To review the clinical presentation and pathophysiology of pancreatic dysfunction in pediatric disorders associated with EPI.
- To discuss the challenges and limitations in diagnosing and monitoring EPI in pediatric patients.
Main Methods:
- Review of clinical presentations and proposed pathophysiology of relevant genetic disorders.
- Analysis of current diagnostic methods for pancreatic function testing in children.
Main Results:
- Gold standard pancreatic function tests are invasive, non-standardized, and not widely available.
- Indirect tests are more accessible but suffer from limited sensitivity and specificity for EPI diagnosis.
Conclusions:
- Accurate and accessible diagnostic tools are needed for timely EPI diagnosis and management in pediatric patients.
- Further research into standardized and sensitive pancreatic function tests is crucial for improving patient outcomes.
Abstract:
Pediatric patients with exocrine pancreatic insufficiency (EPI) have symptoms that include abdominal pain, weight loss or poor weight gain, malnutrition, and steatorrhea. This condition can be present at birth or develop during childhood for certain genetic disorders. Cystic fibrosis (CF) is the most prevalent disorder in which patients are screened for EPI; other disorders also are associated with pancreatic dysfunction, such as hereditary pancreatitis, Pearson syndrome, and Shwachman-Diamond syndrome. Understanding the clinical presentation and proposed pathophysiology of the pancreatic dysfunction of these disorders aids in diagnosis and treatment. Testing pancreatic function is challenging. Directly testing aspirates produced from the pancreas after stimulation is considered the gold standard, but the procedures are not standardized or widely available. Instead, indirect tests are often used in diagnosis and monitoring. Although indirect tests are more widely available and easier to perform, they have inherent limitations due to a lack of sensitivity and/or specificity for EPI.
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