Faculty Collaboration Database

Genetic and electrophysiological characteristics of recurrent acute pancreatitis. J Pediatr Gastroenterol Nutr 2015 May;60(5):675-9

Date

11/11/2014

Pubmed ID

25383785

DOI

10.1097/MPG.0000000000000623

Scopus ID

2-s2.0-85027923772 (requires institutional sign-in at Scopus site)   28 Citations

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.

Author List

Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M

Author

Steven L. Werlin MD Emeritus Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Acute Disease
Adolescent
Adult
Aged
Arabs
Carrier Proteins
Child
Child, Preschool
Chlorides
Chymotrypsin
Cystic Fibrosis Transmembrane Conductance Regulator
Electrophysiological Phenomena
Female
Humans
Infant
Israel
Jews
Male
Membrane Potentials
Middle Aged
Nose
Pancreatitis
Recurrence
Respiratory Mucosa
Sweat
Trypsin
Trypsin Inhibitor, Kazal Pancreatic
Young Adult