Journal Article Ahead of print
PubMed: 41417682 DOI: 10.1097/MPA.0000000000002617
Genetic and Electrophysiological Characterization of Acute Recurrent Pancreatitis in Israeli Patients.
Pancreas
Authors: Maayan Tiosano, Liron Birimberg-Schwartz, Michael Wilschanski, Emmanuelle Masson, Jian-Min Chen, Philippe Ruszniewski, Vinciane Rebours, Manar Matar, Ron Shaoul, Baruch Yerushalmi, Batya Weiss, Oren Ledder, Michal Kori, Efrat Broide, Chani Topf-Olivestone, Michael Cohen, Ayelet Gamliel, Claude Férec
Affiliations
- Department of Pediatric Gastroenterology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
- Univ Brest, Inserm, EFS, UMR 1078, GGB; Service de Génétique Médicale et de Biologie de la Reproduction, CHU Brest, Brest, France.
- Faculty of Medicine, Université Paris Cité, France.
- Service de Pancréatologie et Oncologie Digestive, Hôpital Beaujon, AP-HP, Université Paris Cité, Clichy, France.
- Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center. Petach Tikva, Israel.
- Pediatric Gastroenterology and Nutrition Institute, Rambam Health Care Campus, Haifa, Israel.
- Pediatric Gastrointestinal Unit, Soroka University Medical Center, Beer-Sheva, Israel; Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
- Edmond and Lily Safra Children's Hospital, Tel Hashomer, Israel; Sackler Faculty of Medicine, University of Tel Aviv, Israel.
- Juliet Keiden Institute of Pediatric Gastroenterology and Nutrition, Shaare Zedek Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
- Pedatric Day Care Unit, Pediatric GI Kaplan Medical Center, Clalit Health Services, Israel.
- Shamir Medical Center, Assaf Harofeh, Department of Gastroenterology, Be'er Ya'akov, Israel.
- Pediatric Gastroenterology, Assuta Medical Center, Ashdod 7747629, Israel.
Abstract
OBJECTIVES
Genetics is significant contributor to acute recurrent pancreatitis. This study evaluates the prevalence of genetic variants and assesses electrophysiological characteristics in Israeli patients.
METHODS
Patients with ≥ two episodes of acute pancreatitis, no history of drug use, normal IgG4 levels, and normal cholangiopancreatographic findings were included. Genetic analysis targeted the PRSS1, SPINK1, CTRC, CFTR, CPA1 and TRPV6 genes, as well as the CEL-HYB1 allele. Sweat testing and nasal potential difference measurements were also performed.
RESULTS
Seventy-nine patients (median age 13 years; range 2-61) were referred between 2015 and 2021. 45 (57.0%) carried at least one genetic variant; 18 patients carried 2 or more variants. CFTR variants were the most common (35.4%), followed by PRSS1 (11.4%), SPINK1 (10.1%), and CTRC (10.1%). The rare PRSS1 p.Lys23Arg variant was prevalent among Jewish Georgian patients (n=8). Patients with genetic variants were younger than those without (P<0.0035). Of the 71 patients who underwent nasal potential difference testing, 2 (5.6%) had abnormal results. Sweat test in 66 patients showed a mean value of 36 ± 16 mmol/L, six had results above 60 mmol/L; two of these carried CFTR variants TG[11]T[5] and p.Leu997Phe but had normal nasal potential.
CONCLUSIONS
More than half of acute recurrent pancreatitis cases had a genetic basis, presenting at a younger age. CFTR variants were the most prevalent. The high prevalence of the PRSS1 p.Lys23Arg variant among Jewish Georgian individuals suggests a potential founder effect. These findings highlight the importance of genetic evaluation in the diagnosis and management of acute recurrent pancreatitis.
MeSH
Research Design, Pancreas, Pancreatitis, Prevalence