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 conduct...

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Veröffentlicht in:Journal of pediatric gastroenterology and nutrition 2015-05, Vol.60 (5), p.675-679
Hauptverfasser: 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
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container_end_page 679
container_issue 5
container_start_page 675
container_title Journal of pediatric gastroenterology and nutrition
container_volume 60
creator 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
description 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.
doi_str_mv 10.1097/MPG.0000000000000623
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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.</description><identifier>ISSN: 0277-2116</identifier><identifier>EISSN: 1536-4801</identifier><identifier>DOI: 10.1097/MPG.0000000000000623</identifier><identifier>PMID: 25383785</identifier><language>eng</language><publisher>United States: by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology</publisher><subject>Acute Disease ; acute recurrent pancreatitis ; Adolescent ; Adult ; Aged ; Arabs - genetics ; Carrier Proteins - genetics ; cftr ; Child ; Child, Preschool ; Chlorides - analysis ; Chymotrypsin - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator - metabolism ; Electrophysiological Phenomena ; Female ; Humans ; Infant ; Israel ; Jews - genetics ; Male ; Membrane Potentials ; Middle Aged ; nasal potential difference ; Nose - physiopathology ; Pancreatitis - ethnology ; Pancreatitis - genetics ; Pancreatitis - physiopathology ; Recurrence ; Respiratory Mucosa - physiopathology ; Sweat - chemistry ; Trypsin - genetics ; Trypsin Inhibitor, Kazal Pancreatic ; Young Adult</subject><ispartof>Journal of pediatric gastroenterology and nutrition, 2015-05, Vol.60 (5), p.675-679</ispartof><rights>2015 by European Society for European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition</rights><rights>2015 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c6623-49fcca3886180bbc53f8b203e760e3a87a5188098763687eeff05f8b6eea03933</citedby><cites>FETCH-LOGICAL-c6623-49fcca3886180bbc53f8b203e760e3a87a5188098763687eeff05f8b6eea03933</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1097%2FMPG.0000000000000623$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1097%2FMPG.0000000000000623$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25383785$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Werlin, Steven</creatorcontrib><creatorcontrib>Konikoff, Fred M.</creatorcontrib><creatorcontrib>Halpern, Zamir</creatorcontrib><creatorcontrib>Barkay, Olga</creatorcontrib><creatorcontrib>Yerushalmi, Baruch</creatorcontrib><creatorcontrib>Broide, Efrat</creatorcontrib><creatorcontrib>Santo, Erwin</creatorcontrib><creatorcontrib>Shamir, Raanan</creatorcontrib><creatorcontrib>Shaoul, Ron</creatorcontrib><creatorcontrib>Shteyer, Eyal</creatorcontrib><creatorcontrib>Yaakov, Yasmin</creatorcontrib><creatorcontrib>Cohen, Michael</creatorcontrib><creatorcontrib>Kerem, Eitan</creatorcontrib><creatorcontrib>Ruszniewski, Philippe</creatorcontrib><creatorcontrib>Masson, Emmanuelle</creatorcontrib><creatorcontrib>Ferec, Claude</creatorcontrib><creatorcontrib>Wilschanski, Michael</creatorcontrib><title>Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis</title><title>Journal of pediatric gastroenterology and nutrition</title><addtitle>J Pediatr Gastroenterol Nutr</addtitle><description>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.</description><subject>Acute Disease</subject><subject>acute recurrent pancreatitis</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Arabs - genetics</subject><subject>Carrier Proteins - genetics</subject><subject>cftr</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chlorides - analysis</subject><subject>Chymotrypsin - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - metabolism</subject><subject>Electrophysiological Phenomena</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Israel</subject><subject>Jews - genetics</subject><subject>Male</subject><subject>Membrane Potentials</subject><subject>Middle Aged</subject><subject>nasal potential difference</subject><subject>Nose - physiopathology</subject><subject>Pancreatitis - ethnology</subject><subject>Pancreatitis - genetics</subject><subject>Pancreatitis - physiopathology</subject><subject>Recurrence</subject><subject>Respiratory Mucosa - physiopathology</subject><subject>Sweat - chemistry</subject><subject>Trypsin - genetics</subject><subject>Trypsin Inhibitor, Kazal Pancreatic</subject><subject>Young Adult</subject><issn>0277-2116</issn><issn>1536-4801</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkE1PAjEQhhujUfz4B8bs0ctiu6Ufe_CABFCDSoyem1JnpVp2se3G8O-tAY3xonOZy_O-M3kQOia4S3Apzm6m4y7-ObygW6hDGOV5T2KyjTq4ECIvCOF7aD-El8SIHsO7aK9gVFIhWQdNx1BDtCbT9VM2dGCib5bzVbCNa56t0S4bzLXXJoK3IXEha6rsHkzrPdQx65s2QjbVtfGgo402HKKdSrsAR5t9gB5Hw4fBZT65G18N-pPc8PRo3isrYzSVkhOJZzPDaCVnBaYgOAaqpdCMSIlLKTjlUgBUFWYJ4QAa05LSA3S67l365q2FENXCBgPO6RqaNijCBZOCUcwT2lujxjcheKjU0tuF9itFsPp0qZJL9dtlip1sLrSzBTx9h77kJUCugffGJT_h1bXv4NUctIvzv7rPN1HrYPWvf9T19JZejLAoWEk_AMbzkYg</recordid><startdate>201505</startdate><enddate>201505</enddate><creator>Werlin, Steven</creator><creator>Konikoff, Fred M.</creator><creator>Halpern, Zamir</creator><creator>Barkay, Olga</creator><creator>Yerushalmi, Baruch</creator><creator>Broide, Efrat</creator><creator>Santo, Erwin</creator><creator>Shamir, Raanan</creator><creator>Shaoul, Ron</creator><creator>Shteyer, Eyal</creator><creator>Yaakov, Yasmin</creator><creator>Cohen, Michael</creator><creator>Kerem, Eitan</creator><creator>Ruszniewski, Philippe</creator><creator>Masson, Emmanuelle</creator><creator>Ferec, Claude</creator><creator>Wilschanski, Michael</creator><general>by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201505</creationdate><title>Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c6623-49fcca3886180bbc53f8b203e760e3a87a5188098763687eeff05f8b6eea03933</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Acute Disease</topic><topic>acute recurrent pancreatitis</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Arabs - genetics</topic><topic>Carrier Proteins - genetics</topic><topic>cftr</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chlorides - analysis</topic><topic>Chymotrypsin - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - metabolism</topic><topic>Electrophysiological Phenomena</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Israel</topic><topic>Jews - genetics</topic><topic>Male</topic><topic>Membrane Potentials</topic><topic>Middle Aged</topic><topic>nasal potential difference</topic><topic>Nose - physiopathology</topic><topic>Pancreatitis - ethnology</topic><topic>Pancreatitis - genetics</topic><topic>Pancreatitis - physiopathology</topic><topic>Recurrence</topic><topic>Respiratory Mucosa - physiopathology</topic><topic>Sweat - chemistry</topic><topic>Trypsin - genetics</topic><topic>Trypsin Inhibitor, Kazal Pancreatic</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Werlin, Steven</creatorcontrib><creatorcontrib>Konikoff, Fred M.</creatorcontrib><creatorcontrib>Halpern, Zamir</creatorcontrib><creatorcontrib>Barkay, Olga</creatorcontrib><creatorcontrib>Yerushalmi, Baruch</creatorcontrib><creatorcontrib>Broide, Efrat</creatorcontrib><creatorcontrib>Santo, Erwin</creatorcontrib><creatorcontrib>Shamir, Raanan</creatorcontrib><creatorcontrib>Shaoul, Ron</creatorcontrib><creatorcontrib>Shteyer, Eyal</creatorcontrib><creatorcontrib>Yaakov, Yasmin</creatorcontrib><creatorcontrib>Cohen, Michael</creatorcontrib><creatorcontrib>Kerem, Eitan</creatorcontrib><creatorcontrib>Ruszniewski, Philippe</creatorcontrib><creatorcontrib>Masson, Emmanuelle</creatorcontrib><creatorcontrib>Ferec, Claude</creatorcontrib><creatorcontrib>Wilschanski, Michael</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of pediatric gastroenterology and nutrition</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Werlin, Steven</au><au>Konikoff, Fred M.</au><au>Halpern, Zamir</au><au>Barkay, Olga</au><au>Yerushalmi, Baruch</au><au>Broide, Efrat</au><au>Santo, Erwin</au><au>Shamir, Raanan</au><au>Shaoul, Ron</au><au>Shteyer, Eyal</au><au>Yaakov, Yasmin</au><au>Cohen, Michael</au><au>Kerem, Eitan</au><au>Ruszniewski, Philippe</au><au>Masson, Emmanuelle</au><au>Ferec, Claude</au><au>Wilschanski, Michael</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis</atitle><jtitle>Journal of pediatric gastroenterology and nutrition</jtitle><addtitle>J Pediatr Gastroenterol Nutr</addtitle><date>2015-05</date><risdate>2015</risdate><volume>60</volume><issue>5</issue><spage>675</spage><epage>679</epage><pages>675-679</pages><issn>0277-2116</issn><eissn>1536-4801</eissn><abstract>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.</abstract><cop>United States</cop><pub>by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology</pub><pmid>25383785</pmid><doi>10.1097/MPG.0000000000000623</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record>
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subjects Acute Disease
acute recurrent pancreatitis
Adolescent
Adult
Aged
Arabs - genetics
Carrier Proteins - genetics
cftr
Child
Child, Preschool
Chlorides - analysis
Chymotrypsin - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - metabolism
Electrophysiological Phenomena
Female
Humans
Infant
Israel
Jews - genetics
Male
Membrane Potentials
Middle Aged
nasal potential difference
Nose - physiopathology
Pancreatitis - ethnology
Pancreatitis - genetics
Pancreatitis - physiopathology
Recurrence
Respiratory Mucosa - physiopathology
Sweat - chemistry
Trypsin - genetics
Trypsin Inhibitor, Kazal Pancreatic
Young Adult
title Genetic and Electrophysiological Characteristics of Recurrent Acute Pancreatitis
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