Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis. Issue 5 (May 2015)

• Record Type: Journal Article
• Authors: Werlin, Steven; Konikoff, Fred M.; Halpern, Zamir; Barkay, Olga; Yerushalmi, Baruch; Broide, Efrat; Santo, Erwin; Shamir, Raanan; Shaoul, Ron; Shteyer, Eyal; Yaakov, Yasmin; Cohen, Michael; Kerem, Eitan; Ruszniewski, Philippe; Masson, Emmanuelle; Ferec, Claude; Wilschanski, Michael
• Is Part Of: Journal of pediatric gastroenterology and nutrition. Volume 60:Issue 5(2015)
• Publication Date: 2015-05
• Subjects: Children -- Nutrition -- Periodicals; Pediatric gastroenterology -- Periodicals; Infants -- Nutrition -- Periodicals; Nutrition disorders in children -- Periodicals; Child Nutrition -- Periodicals; Digestive System -- growth & development -- Periodicals; Gastrointestinal Diseases -- Periodicals; Infant Nutrition -- Periodicals; Nutrition Disorders -- Periodicals; Child; 618.923
• DOI: 10.1097/MPG.0000000000000623
• Languages: English
• ISSNs: 0277-2116

Abstract

<abstract> <title>ABSTRACT</title> <sec> <title>Objectives:</title> <p>The aim was to present the workup of patients with acute recurrent pancreatitis (ARP) for genetic analysis and electrophysiological testing.</p> </sec> <sec> <title>Methods:</title> <p>Patients with ARP with unknown etiology were referred for genetic testing and evaluation of cystic fibrosis transmembrane conductor regulator (CFTR) function by nasal potential difference (NPD) testing.</p> </sec> <sec> <title>Results:</title> <p>A total of 67 patients were evaluated. The mean age was 23 ± 17 years (median 17.0 years, range 1.5–72 years); 90% were Jewish and 10% Arab. Ten (15%) patients carried <italic>PRSS1</italic> gene mutation (K23R(7), R122H(2), and D21A(1)). One patient had K172E/− (chymotrypsin C [<italic>CTRC</italic>]) mutation, 1 had I42M (serine protease inhibitor Kazal type 1 [<italic>SPINK1</italic>])/V235I (<italic>CTRC</italic>) together with ΔF508/5T, 1 patient had R67H (<italic>SPINK1</italic>)/V235I (<italic>CTRC</italic>), and 1 patient had V235I (<italic>CTRC</italic>)/−. Ten of 67 (15%) patients submitted for <italic>CFTR</italic> gene testing carried mutations (ΔF508/L997F, ΔF508/5T(11TG), W1282/5T(12TG), W1282X/Y1014C, ΔF508/R31C, R117H/−, R117H/Y1014C, D1152H/−, 5T(11TG)/−, and L997F/−). Fifty-four (80%) patients underwent sweat testing. Of these, 5 had sweat chloride ≥60 mEq/L, and 22 patients had sweat chloride from 40 to 60 mEq/L. Of the 56 (83%) patients had nasal potential difference testing, 4 (6%) with abnormal results.</p> </sec> <sec> <title>Conclusions:</title> <p>One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of <italic>cftr</italic> mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.</p> </sec> </abstract>