Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis

ABSTRACT Objectives: The aim was to present the workup of patients with acute recurrent pancreatitis (ARP) for genetic analysis and electrophysiological testing. Methods: 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. Results: 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. Conclusions: 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.