Details

Autor(en) / Beteiligte

• 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

Titel

Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis

Ist Teil von

• Journal of pediatric gastroenterology and nutrition, 2015-05, Vol.60 (5), p.675-679

Ort / Verlag

United States: by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology

Erscheinungsjahr

2015

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• 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.