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.

• 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: Journal of pediatric gastroenterology and nutrition (J Pediatr Gastroenterol Nutr) Vol. 60 Issue 5 Pg. 675-9 (May 2015) ISSN: 1536-4801 [Electronic] United States
• PMID: 25383785 (Publication Type: Journal Article)

Chemical References

• Carrier Proteins
• Chlorides
• SPINK1 protein, human
• Cystic Fibrosis Transmembrane Conductance Regulator
• Trypsin Inhibitor, Kazal Pancreatic
• Chymotrypsin
• chymotrypsin C
• PRSS1 protein, human
• Trypsin

Topics

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