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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| Published in | JPGN reports Vol. 3; no. 1; p. e142 |
|---|---|
| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Lippincott Williams & Wilkins, Inc
01.02.2022
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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
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. |
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| AbstractList | 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. 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. |
| Author | Woolfson, Jessica P Lin, Cindy |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37168745$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.jpeds.2016.09.064 10.1097/MPA.0000000000001350 10.1097/MPG.0000000000001788 10.1053/gast.2002.37042 10.1093/hmg/7.11.1761 10.1053/j.gastro.2010.09.046 |
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| Copyright | Copyright © 2021 The Author(s). Published by Wolters Kluwer on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. Copyright © 2021 The Author(s). Published by Wolters Kluwer on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. 2021 |
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| Keywords | delayed presentation pancreatic sufficiency cystic fibrosis acute recurrent pancreatitis |
| Language | English |
| License | Copyright © 2021 The Author(s). Published by Wolters Kluwer on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
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| References | Durno (R2-20231104) 2002; 123 Vankeerberghen (R5-20231104) 1998; 7 Ooi (R7-20231104) 2011; 140 Farrell (R8-20231104) 2017; 181S Carrion (R4-20231104) 2018; 66 R6-20231104 Baldwin (R3-20231104) 2019; 48 |
| References_xml | – volume: 181S start-page: S4 year: 2017 ident: R8-20231104 article-title: Diagnosis of cystic fibrosis: consensus guidelines from the cystic fibrosis foundation. publication-title: J Pediatr doi: 10.1016/j.jpeds.2016.09.064 contributor: fullname: Farrell – volume: 48 start-page: 888 year: 2019 ident: R3-20231104 article-title: Acute recurrent and chronic pancreatitis as initial manifestations of cystic fibrosis and cystic fibrosis transmembrane conductance regulator-related disorders. publication-title: Pancreas doi: 10.1097/MPA.0000000000001350 contributor: fullname: Baldwin – volume: 66 start-page: 451 year: 2018 ident: R4-20231104 article-title: Reduction of recurrence risk of pancreatitis in cystic fibrosis with ivacaftor: case series. publication-title: J Pediatr Gastroenterol Nutr doi: 10.1097/MPG.0000000000001788 contributor: fullname: Carrion – ident: R6-20231104 article-title: The Clinical and Functional TRanslation of CFTR (CFTR2). – volume: 123 start-page: 1857 year: 2002 ident: R2-20231104 article-title: Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. publication-title: Gastroenterology doi: 10.1053/gast.2002.37042 contributor: fullname: Durno – volume: 7 start-page: 1761 year: 1998 ident: R5-20231104 article-title: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. publication-title: Hum Mol Genet doi: 10.1093/hmg/7.11.1761 contributor: fullname: Vankeerberghen – volume: 140 start-page: 153 year: 2011 ident: R7-20231104 article-title: Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. publication-title: Gastroenterology doi: 10.1053/j.gastro.2010.09.046 contributor: fullname: Ooi |
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| Title | CFTR:F508d/A613T Mutation Is Associated With Recurrent Episodes of Pancreatitis |
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