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.
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: Joseph J Palermo; Tom K Lin; Lindsey Hornung; C Alexander Valencia; Abhinav Mathur; Kimberly Jackson; Lin Fei; Maisam Abu-El-Haija Journal: Pancreas Date: 2016-10 Impact factor: 3.327
Authors: Cheryl E Gariepy; Melvin B Heyman; Mark E Lowe; John F Pohl; Steven L Werlin; Michael Wilschanski; Bradley Barth; Douglas S Fishman; Steven D Freedman; Matthew J Giefer; Tanja Gonska; Ryan Himes; Sohail Z Husain; Veronique D Morinville; Chee Y Ooi; Sarah J Schwarzenberg; David M Troendle; Elizabeth Yen; Aliye Uc Journal: J Pediatr Gastroenterol Nutr Date: 2017-01 Impact factor: 2.839
Authors: George M Solomon; Inez Bronsveld; Kathryn Hayes; Michael Wilschanski; Paola Melotti; Steven M Rowe; Isabelle Sermet-Gaudelus Journal: J Vis Exp Date: 2018-09-13 Impact factor: 1.355
Authors: Soma Kumar; Chee Y Ooi; Steven Werlin; Maisam Abu-El-Haija; Bradley Barth; Melena D Bellin; Peter R Durie; Douglas S Fishman; Steven D Freedman; Cheryl Gariepy; Matthew J Giefer; Tanja Gonska; Melvin B Heyman; Ryan Himes; Sohail Z Husain; Tom K Lin; Mark E Lowe; Veronique Morinville; Joseph J Palermo; John F Pohl; Sarah Jane Schwarzenberg; David Troendle; Michael Wilschanski; M Bridget Zimmerman; Aliye Uc Journal: JAMA Pediatr Date: 2016-06-01 Impact factor: 16.193
Authors: Sharon L Wong; Nikhil T Awatade; Miro A Astore; Katelin M Allan; Michael J Carnell; Iveta Slapetova; Po-Chia Chen; Alexander Capraro; Laura K Fawcett; Renee M Whan; Renate Griffith; Chee Y Ooi; Serdar Kuyucak; Adam Jaffe; Shafagh A Waters Journal: iScience Date: 2021-12-31