Genetics linked to early-onset pancreatitis in children

Findings show certain genetic mutations and family history are common risk factors in children diagnosed with acute recurrent and chronic pancreatitis before age 6.
By Amy Wallace  |  May 10, 2017 at 4:29 PM
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May 10 (UPI) -- Researchers at Seattle Children's Hospital have found that early-onset pancreatitis in children is significantly associated with certain genetic mutations and family history.

Pancreatitis occurs when the pancreas becomes inflamed and internal enzymes irritate and damage the pancreas itself. Pancreatitis can be triggered by physical trauma, specific viral infections, certain medications or ingest a toxin.

It is rare among children but the number of cases are on the rise with children now being susceptible to the disease almost as much as adults.

The study analyzed 342 children under age 18 with acute recurrent pancreatitis, or ARP, and chronic pancreatitis, or CP, from the International Study Group of Pediatric Pancreatitis, or INSPPIRE.

Researchers split the children into three age cohorts, children ages 5 and below, children between age 6 and 11, and children between age 12 and 18.

"It's widely known that alcohol and smoking are easily identifiable risk factors in adults who develop pancreatitis," Dr. Matthew Giefer, director of gastrointestinal endoscopy at Seattle Children's Hospital, said in a press release. "However, determining the underlying causes of the disease in children has been challenging to uncover. This study allowed us to test and evaluate the association between age of onset and characteristics of patients with ARP and CP."

Researchers found the two most common genetic mutations were cationic trypsinogen, or PRSS1, and chymotrypsin C, or CTRC.

PRSS1 mutations were found in 43 percent of patients and CTRC was found in 14 percent of patients with early-onset pancreatitis.

In patients ages 5 and younger with early-onset pancreatitis, 71 percent had at least one of the associated-genetic mutations compared to patients with later-onset pancreatitis.

"Building upon previous data related to the PRSS1 mutations found in patients with early-onset pancreatitis, we learned that combined with our current data, patients with PRSS1 are more likely to have an aggressive disease course," Giefer said. "The more we understand and discover important details such as this, the closer we are to developing treatments that could modify the disease course in patients."

The study was published in the Journal of Pediatrics.

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