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case_report·gastroenterology, pediatrics, pulmonology, internal medicine·PMC10158408

CFTR:F508d/A613T Mutation Is Associated With Recurrent Episodes of Pancreatitis

JPGN reports · 2 authors, 2 centres

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TL;DR

This is a case report of a 17.5-year-old female with a 10-year history of acute recurrent pancreatitis who was ultimately diagnosed with cystic fibrosis due to a rare CFTR genotype. The report highlights the importance of screening for CFTR mutations in patients with unexplained recurrent pancreatitis.

Full summary

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This is a case report describing a 17.5-year-old female with acute recurrent pancreatitis and no overt respiratory symptoms. After a 10-year diagnostic delay, she was found to have elevated sweat chloride and was genetically diagnosed with cystic fibrosis (CF) with a compound heterozygous genotype of CFTR:F508d/A613T. Diagnostic workup included lab tests showing elevated amylase and lipase during episodes, normal fecal elastase, and imaging (ultrasound, MRCP) that ruled out other causes. The authors state this is the first reported case of acute recurrent pancreatitis with this specific genotype. They recommend including CFTR function testing in the evaluation of unexplained recurrent pancreatitis to enable earlier diagnosis and management.

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case_report

SPECIALTY

gastroenterology

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ORIGINAL PAPER

PMC10158408

CFTR:F508d/A613T Mutation Is Associated With Recurrent Episodes of Pancreatitis

JPGN reports

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ABSTRACT

Pancreatic insufficiency (PI) is found in 85% of individuals with cystic fibrosis (CF). Of the remaining who are pancreatic sufficient (PS), there is potential for developing pancreatitis, and is described in ~20% of PS individuals. We report a case of a 17.5-year-old female presenting with acute recurrent pancreatitis (ARP) and PS, later diagnosed with CF. This is the first reported case of ARP in an individual with a F508d/A613T genotype. To date, there are only 6 other individuals with this genotype, and the mechanisms of it causing ARP and no overt respiratory symptoms of CF are unclear. Her diagnosis occurred 10 years after her initial presentation of pancreatitis, highlighting the importance of screening for CFTR mutations in the workup for ARP with no clear etiology.

CITATION EXPORT

Cindy Lin, Jessica P. Woolfson. CFTR:F508d/A613T Mutation Is Associated With Recurrent Episodes of Pancreatitis. JPGN reports. (2022). https://doi.org/10.1097/PG9.0000000000000142

AUTHORS

2 · 2 CENTRES

Cindy Lin, Jessica P. Woolfson

From *The University of Western Ontario, Schulich School of Medicine and Dentistry, London, ON, Canada
†Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children’s Hospital at London Health Sciences Centre, London, ON, Canada.