Referenced in: none

Automatically associated channels: Kir2.3

Title: Genetic and electrophysiological characteristics of recurrent acute pancreatitis.

Authors: Steven Werlin, Fred M Konikoff, Zamir Halpern, Olga Barkay, Baruch Yerushalmi, Efrat Broide, Erwin Santo, Raanan Shamir, Ron Shaoul, Eyal Shteyer, Yasmin Yaakov, Michael Cohen, Eitan Kerem, Philippe Ruszniewski, Emmanuelle Masson, Claude Ferec, Michael Wilschanski

Journal, date & volume: J. Pediatr. Gastroenterol. Nutr., 2015 May , 60, 675-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25383785

Abstract
The aim was to present the workup of patients with acute recurrent pancreatitis (ARP) for genetic analysis and electrophysiological testing.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.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 PRSS1 gene mutation (K23R(7), R122H(2), and D21A(1)). One patient had K172E/- (chymotrypsin C [CTRC]) mutation, 1 had I42M (serine protease inhibitor Kazal type 1 [SPINK1])/V235I (CTRC) together with ΔF508/5T, 1 patient had R67H (SPINK1)/V235I (CTRC), and 1 patient had V235I (CTRC)/-. Ten of 67 (15%) patients submitted for CFTR 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.One-third (34%) of patients with ARP carry mutations for hereditary pancreatitis including rare mutations (K23R), and 12.5% have evidence of cftr mutations and 10% had CFTR dysfunction underscoring the importance of genetic and functional workup of these patients.