New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?

<p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with ep...
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Autor*in:	Galli Elena [verfasserIn] Piciucchi Matteo [verfasserIn] D'Apice Maria R [verfasserIn] Gullotta Francesca [verfasserIn] Gambardella Stefano [verfasserIn] Corleto Vito D [verfasserIn] Lucidi Vincenzina [verfasserIn] Novelli Giuseppe [verfasserIn] Fave Gianfranco [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2010

Übergeordnetes Werk:	In: BMC Gastroenterology - BMC, 2003, 10(2010), 1, p 119
Übergeordnetes Werk:	volume:10 ; year:2010 ; number:1, p 119

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/1471-230X-10-119

Katalog-ID:	DOAJ024454281

Internformat


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520			\|a <p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p<
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allfields	10.1186/1471-230X-10-119 doi (DE-627)DOAJ024454281 (DE-599)DOAJ7524256c68c0491385e59c947136f603 DE-627 ger DE-627 rakwb eng RC799-869 Galli Elena verfasserin aut New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ? 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p< Diseases of the digestive system. Gastroenterology Piciucchi Matteo verfasserin aut D'Apice Maria R verfasserin aut Gullotta Francesca verfasserin aut Gambardella Stefano verfasserin aut Corleto Vito D verfasserin aut Lucidi Vincenzina verfasserin aut Novelli Giuseppe verfasserin aut Fave Gianfranco verfasserin aut In BMC Gastroenterology BMC, 2003 10(2010), 1, p 119 (DE-627)326643702 (DE-600)2041351-8 1471230X nnns volume:10 year:2010 number:1, p 119 https://doi.org/10.1186/1471-230X-10-119 kostenfrei https://doaj.org/article/7524256c68c0491385e59c947136f603 kostenfrei http://www.biomedcentral.com/1471-230X/10/119 kostenfrei https://doaj.org/toc/1471-230X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2010 1, p 119
spelling	10.1186/1471-230X-10-119 doi (DE-627)DOAJ024454281 (DE-599)DOAJ7524256c68c0491385e59c947136f603 DE-627 ger DE-627 rakwb eng RC799-869 Galli Elena verfasserin aut New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ? 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p< Diseases of the digestive system. Gastroenterology Piciucchi Matteo verfasserin aut D'Apice Maria R verfasserin aut Gullotta Francesca verfasserin aut Gambardella Stefano verfasserin aut Corleto Vito D verfasserin aut Lucidi Vincenzina verfasserin aut Novelli Giuseppe verfasserin aut Fave Gianfranco verfasserin aut In BMC Gastroenterology BMC, 2003 10(2010), 1, p 119 (DE-627)326643702 (DE-600)2041351-8 1471230X nnns volume:10 year:2010 number:1, p 119 https://doi.org/10.1186/1471-230X-10-119 kostenfrei https://doaj.org/article/7524256c68c0491385e59c947136f603 kostenfrei http://www.biomedcentral.com/1471-230X/10/119 kostenfrei https://doaj.org/toc/1471-230X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2010 1, p 119
allfields_unstemmed	10.1186/1471-230X-10-119 doi (DE-627)DOAJ024454281 (DE-599)DOAJ7524256c68c0491385e59c947136f603 DE-627 ger DE-627 rakwb eng RC799-869 Galli Elena verfasserin aut New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ? 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p< Diseases of the digestive system. Gastroenterology Piciucchi Matteo verfasserin aut D'Apice Maria R verfasserin aut Gullotta Francesca verfasserin aut Gambardella Stefano verfasserin aut Corleto Vito D verfasserin aut Lucidi Vincenzina verfasserin aut Novelli Giuseppe verfasserin aut Fave Gianfranco verfasserin aut In BMC Gastroenterology BMC, 2003 10(2010), 1, p 119 (DE-627)326643702 (DE-600)2041351-8 1471230X nnns volume:10 year:2010 number:1, p 119 https://doi.org/10.1186/1471-230X-10-119 kostenfrei https://doaj.org/article/7524256c68c0491385e59c947136f603 kostenfrei http://www.biomedcentral.com/1471-230X/10/119 kostenfrei https://doaj.org/toc/1471-230X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2010 1, p 119
allfieldsGer	10.1186/1471-230X-10-119 doi (DE-627)DOAJ024454281 (DE-599)DOAJ7524256c68c0491385e59c947136f603 DE-627 ger DE-627 rakwb eng RC799-869 Galli Elena verfasserin aut New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ? 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p< Diseases of the digestive system. Gastroenterology Piciucchi Matteo verfasserin aut D'Apice Maria R verfasserin aut Gullotta Francesca verfasserin aut Gambardella Stefano verfasserin aut Corleto Vito D verfasserin aut Lucidi Vincenzina verfasserin aut Novelli Giuseppe verfasserin aut Fave Gianfranco verfasserin aut In BMC Gastroenterology BMC, 2003 10(2010), 1, p 119 (DE-627)326643702 (DE-600)2041351-8 1471230X nnns volume:10 year:2010 number:1, p 119 https://doi.org/10.1186/1471-230X-10-119 kostenfrei https://doaj.org/article/7524256c68c0491385e59c947136f603 kostenfrei http://www.biomedcentral.com/1471-230X/10/119 kostenfrei https://doaj.org/toc/1471-230X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2010 1, p 119
allfieldsSound	10.1186/1471-230X-10-119 doi (DE-627)DOAJ024454281 (DE-599)DOAJ7524256c68c0491385e59c947136f603 DE-627 ger DE-627 rakwb eng RC799-869 Galli Elena verfasserin aut New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ? 2010 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p< Diseases of the digestive system. Gastroenterology Piciucchi Matteo verfasserin aut D'Apice Maria R verfasserin aut Gullotta Francesca verfasserin aut Gambardella Stefano verfasserin aut Corleto Vito D verfasserin aut Lucidi Vincenzina verfasserin aut Novelli Giuseppe verfasserin aut Fave Gianfranco verfasserin aut In BMC Gastroenterology BMC, 2003 10(2010), 1, p 119 (DE-627)326643702 (DE-600)2041351-8 1471230X nnns volume:10 year:2010 number:1, p 119 https://doi.org/10.1186/1471-230X-10-119 kostenfrei https://doaj.org/article/7524256c68c0491385e59c947136f603 kostenfrei http://www.biomedcentral.com/1471-230X/10/119 kostenfrei https://doaj.org/toc/1471-230X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2010 1, p 119
language	English
source	In BMC Gastroenterology 10(2010), 1, p 119 volume:10 year:2010 number:1, p 119
sourceStr	In BMC Gastroenterology 10(2010), 1, p 119 volume:10 year:2010 number:1, p 119
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Diseases of the digestive system. Gastroenterology
isfreeaccess_bool	true
container_title	BMC Gastroenterology
authorswithroles_txt_mv	Galli Elena @@aut@@ Piciucchi Matteo @@aut@@ D'Apice Maria R @@aut@@ Gullotta Francesca @@aut@@ Gambardella Stefano @@aut@@ Corleto Vito D @@aut@@ Lucidi Vincenzina @@aut@@ Novelli Giuseppe @@aut@@ Fave Gianfranco @@aut@@
publishDateDaySort_date	2010-01-01T00:00:00Z
hierarchy_top_id	326643702
id	DOAJ024454281
language_de	englisch
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Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. 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author	Galli Elena
spellingShingle	Galli Elena misc RC799-869 misc Diseases of the digestive system. Gastroenterology New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
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topic_title	RC799-869 New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
topic	misc RC799-869 misc Diseases of the digestive system. Gastroenterology
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title	New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
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title_full	New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
author_sort	Galli Elena
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author_browse	Galli Elena Piciucchi Matteo D'Apice Maria R Gullotta Francesca Gambardella Stefano Corleto Vito D Lucidi Vincenzina Novelli Giuseppe Fave Gianfranco
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doi_str_mv	10.1186/1471-230X-10-119
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title_sort	new prss1 and common cftr mutations in a child with acute recurrent pancreatitis, could be considered an "hereditary" form of pancreatitis ?
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title_auth	New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
abstract	<p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p<
abstractGer	<p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p<
abstract_unstemmed	<p<Abstract</p< <p<Background</p< <p<acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.</p< <p<Case Presentation</p< <p<a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of <it<PRSS1, SPINK1, CFTR </it<and the new hereditary pancreatitis-associated chymotrypsin C (<it<CTRC</it<) genes showed a novel variation, c.541A < G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the <it<CFTR. </it<Both mutations were present in his clinically normal mother and absent in the patient's father.</p< <p<Conclusions</p< <p<this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.</p<
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title_short	New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
url	https://doi.org/10.1186/1471-230X-10-119 https://doaj.org/article/7524256c68c0491385e59c947136f603 http://www.biomedcentral.com/1471-230X/10/119 https://doaj.org/toc/1471-230X
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New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?

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