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

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 re...

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Bibliographic Details
Published inJPGN reports Vol. 3; no. 1; p. e142
Main Authors Lin, Cindy, Woolfson, Jessica P
Format Journal Article
LanguageEnglish
Published United States Lippincott Williams & Wilkins, Inc 01.02.2022
Subjects
Case Report
Gastroenterology
delayed presentation
pancreatic sufficiency
cystic fibrosis
acute recurrent pancreatitis
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Summary: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 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.
ISSN:2691-171X
2691-171X
DOI:10.1097/PG9.0000000000000142