Related Experiment Video
Updated: Mar 2, 2026
An Obstructive Chronic Pancreatitis Model Established Through Electrocoagulation
Published on: October 31, 2025
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations
Matthew J Giefer1, Mark E Lowe2, Steven L Werlin3
1Department of Pediatrics, Seattle Children's Hospital, Seattle, WA.
Insights
Pediatric pancreatitis with early onset is linked to genetic factors like PRSS1/CTRC mutations and family history. Later-onset disease often involves non-genetic factors and comorbidities such as diabetes.
Area of Science:
- Pediatric Gastroenterology
- Hepatology and Nutrition
- Genetics of Pancreatic Diseases
Background:
- Pancreatitis in children, including acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP), presents diagnostic and management challenges.
- Understanding the factors influencing the onset and characteristics of pediatric pancreatitis is crucial for targeted interventions.
- The International Study Group of Pediatric Pancreatitis: In Search for a Cure (INSPPIRE) consortium collects vital data on this condition.
Purpose of the Study:
- To investigate the association between the age of onset of pediatric pancreatitis (ARP or CP) and specific clinical features.
- To determine if early-onset pancreatitis differs from later-onset pancreatitis in terms of genetic predispositions and associated conditions.
- To explore potential differences in disease course and risk factors based on the age at diagnosis.
Main Methods:
- A cohort of 342 children diagnosed with ARP or CP was analyzed.
- Patients were categorized into three age groups at first diagnosis: <6 years, 6-11 years, and ≥12 years.
- Statistical tests, including the Cochran-Armitage trend test and Jonckheere-Terpstra test, were employed to identify significant differences between age groups.
Main Results:
- Early-onset pancreatitis (<6 years) showed a strong association with genetic mutations (PRSS1, CTRC) and a family history of pancreatitis.
- Later-onset pancreatitis (≥12 years) was more frequently linked to non-genetic factors such as hypertriglyceridemia, autoimmune diseases, and medication use.
- Children with later-onset disease were more likely to present with diabetes or require emergency department visits.
Conclusions:
- The age of onset in pediatric pancreatitis is a significant factor differentiating disease etiology, with early onset linked to genetic factors and later onset to non-genetic risks.
- These findings highlight distinct clinical profiles based on age at diagnosis, suggesting different underlying mechanisms.
- Further research is warranted to explore the impact of onset timing on disease progression, treatment response, and long-term outcomes.
Objectives:
To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP).
Study Design:
Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years).
Results:
Between September 2012 and March 2016, 342 children with ARP or CP were enrolled; 129 (38%) were <6 years of age at the time of first diagnosis of acute pancreatitis, 111 (32%) were 6-11 years of age, and 102 (30%) were ≥12 years of age. Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02). Later-onset disease was more commonly present with hypertriglyceridemia (P = .04), ulcerative colitis (P = .02), autoimmune diseases (P < .0001), or medication use (P < .01). Children with later-onset disease also were more likely to visit the emergency department (P < .05) or have diabetes (P < .01).
Conclusions:
Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis. Children with later-onset disease are more likely to have nongenetic risk factors. Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset.
Related Concept Videos
01:24Chronic Pancreatitis I: Introduction
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
01:27Acute Pancreatitis I: Introduction
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
01:29Chronic Pancreatitis II: Collaborative Care
Assessment:
01:30Acute Pancreatitis II: Clinical Manifestations and Management
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
01:17Gastritis-II: Pathophysiology
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...