Another study (MJ Giefer et al. J Pediatr 2017; 186: 95-100) from the INSPPIRE group provides data on early-onset pancreatitis. Specifically, the group presents clinical information on 342 children with acute recurrent pancreatitis or chronic pancreatitis regarding disease burden and associations with genetic mutations.
Genetic disease is much more common in younger ages:
- In subset younger than 6 years, 72 of 102 had genetic diseases identified: PRSS1 in 42, CFTR in 27, SPINK1 in 12, and CTRC in 8.
- In subset 6-11 years of age, 52 of 90 had genetic diseases identified: PRSS1 in 20, CFTR in 23, SPINK1 in 22, and CTRC in 1.
- In subset greater than 12 years of age, 39 of 72 had genetic diseases identified: PRSS1 in 13, CFTR in 24, SPINK1 in 6, and CTRC in 1.
- Testing for newer susceptibility genes were not evaluated as they had not become commercially available: carboxypeptidase 1, claudin 2, carboxylesterlipase, and carboxyesterlipase-hybrid
- SPINK1 is noted to be present in 1-3% of general population; CTRC mutation occur in 0.7% of healthy controls.
Obstructive causes were common. Pancreas divisum was identified in 38 patients but there was not a great deal of difference among the age groups; similarly, other obstructive causes were identified in about one-third of patients and included sphincter of Oddi dysfunction (n=9), gallstones (n=17), pancreaticobiliary malunion (n=12), biliary cyst (n=11), pancreatic stricture (n=2), annular pancreas (n=3), and duodenal diverticulum.
- Exocrine insufficiency noted in 52 (no strong age predilection)
- Diabetes in 18 (11 of the cases occurred in those >12 years)
- Constant moderate pain noted in 82 (25 in group <6, 27 in 6-12 group, and 30 in group >12 years)
- Constant severe pain noted in 18 (4 in group <6, 5 in 6-12 group, and 9 in group >12 years)
- Average number of hospitalizations in past year was 1 in those ≤12 and 2 in those older than 12.
My take: PRSS1 and CTRC mutations are associated with early onset pancreatitis.
Related blog posts:
- Pancreatitis Update 1 and Pancreatitis Update 2
- Consensus Pancreatitis Recommendations
- Risk of pancreatitis with celiac disease | gutsandgrowth
- INSPPIRE for pancreatitis | gutsandgrowth
- For the pediatric pancreatologists | gutsandgrowth
- Chronic Pancreatitis in Pediatrics -Descriptive Study | gutsandgrowth
- RECURRENT PANCREATITIS AND GENETIC UNDERPINNINGS | GUTSANDGROWTH
- DOES PANCREAS DIVISUM CAUSE PANCREATITIS? | GUTSANDGROWTH
- HOW HELPFUL ARE ANTIOXIDANTS FOR CHRONIC PANCREATITIS PAIN …
- Why an ERCP Study Matters to Pediatric Care