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Published on: August 19, 2017
Genetic prevalence and characteristics in children with recurrent pancreatitis
Mutaz Sultan1, Steven Werlin, Narayanan Venkatasubramani
1Department of Pediatrics and the Division of Pediatric Gastroenterology, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Insights
Genetic mutations are a common cause of pancreatitis in children, even without other known risk factors. Further research is needed to understand the genetic basis of pediatric pancreatitis.
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Pancreatitis in children can stem from various causes including genetic factors.
- Mutations in CFTR, PRSS1, and SPINK1 genes are linked to genetic pancreatitis (GP).
- Limited data exists on the clinical profile of GP in pediatric populations.
Purpose of the Study:
- To determine the prevalence of genetic mutations in children with recurrent acute pancreatitis (RAP) or chronic pancreatitis (CP).
- To describe the clinical characteristics and outcomes of pediatric patients with genetic pancreatitis.
Main Methods:
- Retrospective chart review of children (≤18 years) diagnosed with RAP or CP between 2000-2009.
- Identification of patients with mutations in CFTR, PRSS1, or SPINK1 genes.
- Analysis of clinical presentation, family history, genetic findings, and patient outcomes.
Main Results:
- 23 out of 29 identified patients (79%) had mutations in at least one of the studied genes.
- Median age of symptom onset was 5 years; abdominal pain and vomiting were most common.
- CFTR mutations were found in 48%, SPINK1 in 27%, and PRSS1 in 24% of patients. CP was prevalent in patients with combined mutations.
Conclusions:
- Genetic mutations are highly prevalent in children diagnosed with pancreatitis, even in the absence of other known etiologies.
- Further investigation into genetic causes of pediatric pancreatitis is warranted.
- The relationship between single gene mutations (CFTR, PRSS1, SPINK1) and pancreatitis requires additional study.
Aims:
The causes of chronic (CP) and recurrent acute pancreatitis (RAP) in children include anatomic abnormalities and hereditary, metabolic, and autoimmune disorders, with a significant proportion of cases being labeled as idiopathic. Genetic pancreatitis (GP) is associated with mutations of cystic fibrosis transmembrane conductor regulator gene (CFTR), cationic trypsinogen (PRSS1) gene, and serine protease inhibitor Kazal type 1 (SPINK1). There literature is sparse regarding the clinical profile of GP in children. The aim of the present study was to estimate the prevalence and describe the clinical characteristics and outcome of genetic pancreatitis.
Methods:
We reviewed the charts of children ages 18 years or younger with RAP or CP diagnosed from 2000 to 2009 at the Children's Hospital of Wisconsin, Milwaukee. Twenty-nine patients with RAP or CP were identified, of whom 23 (79%) were positive for mutations in ≥1 of the above-mentioned genes, and were included for review.
Results:
The median age of symptom onset was 5 years (range 9 months-15 years) with diagnosis at 6.5 years (range 1-16 years). Twenty-one were white; 14 were girls. The most common presenting symptoms were abdominal pain and vomiting. Patients with RAP had 2 to 8 episodes of pancreatitis during 3.6-year average follow-up. Family history was positive in 5 of 29 of gene-tested patients. CFTR, SPINK1, or PRSS1 mutations were seen in 14 (48%), 8 (27%), and 7 (24%) patients, respectively. Two patients were homozygous for CFTR mutations, 6 heterozygote and 4 patients had 5 T variants. Two other patients had double heterozygous mutations in F508 del/2789 + 5G > A and F508 del/5T variant. Six patients with CP had a combination of CFTR and SPINK1 or PRSS1 mutations. Eleven of 29 (38%) patients met radiological criteria for CP. All of the heterozygote patients with a combination of CFTR and SPINK1 or PRSS1 mutations had CP. Eight patients developed a chronic pain syndrome and 2 developed exocrine pancreatic insufficiency during follow-up.
Conclusions:
We found a high prevalence of genetic mutations in patients without anatomic or metabolic abnormalities known to be associated with pancreatitis. Studies are needed to ascertain the genetic causes of RAP and CP and examine the relation between single CFTR mutations and single mutations in the PRSS1 and SPINK1 genes.
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