Significance of Molecular Testing for Congenital Chloride Diarrhea
Identifieur interne : 001A82 ( PascalFrancis/Corpus ); précédent : 001A81; suivant : 001A83Significance of Molecular Testing for Congenital Chloride Diarrhea
Auteurs : Silvia Lechner ; Frank M. Ruemmele ; Andreas Zankl ; Ekkehart Lausch ; Wolf-Dietrich Huber ; Walter Mihatsch ; Alan D. Phillips ; Peter Lewindon ; Uwe Querfeld ; Peter Heinz-Erian ; Thomas Müller ; Andreas R. JaneckeSource :
- Journal of pediatric gastroenterology and nutrition [ 0277-2116 ] ; 2011.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Objectives: Autosomal recessive, congenital chloride diarrhea (CLD) is a form of persistent secretory diarrhea, presenting with polyhydramnios and intractable diarrhea from birth. CLD is caused by mutations in the SLC26A3 gene, encoding a Na+-independent Cl-/HCO3- exchanger. The diagnosis is generally made on the basis of high fecal chloride concentration in patients with serum electrolyte homoeostasis corrected by salt substitution. We aimed to evaluate the role of diagnostic genetic testing in CLD. Patients and Methods: Clinical and laboratory data were collected from 8 unrelated children diagnosed as having or suspected to have CLD. The evaluation included physical examination, routine clinical chemistry, and SLC26A3 mutation analysis by direct sequencing of DNA extracted from buccal swabs or peripheral leukocytes. Results: CLD was initially diagnosed on high fecal chloride concentrations in 7 patients, and by mutation analysis in 1 patient. In 3 of these patients the correct diagnosis was made more than 6 months after birth. We identified SLC26A3 mutations on both alleles in all 8 patients with CLD, including 3 novel missense and 4 novel truncating mutations. We present a compilation of reported SLC26A3 mutations and polymorphisms. Conclusions: The diagnosis and therapy of CLD were considerably delayed in 3 of 8 patients from this series, highlighting the potential of misdiagnosing CLD. We add 7 novel mutations, including 3 missense changes of highly conserved residues to a total of 41 mutations in this gene. Molecular analysis is efficient and should be considered as a means of early diagnosis of CLD, especially if the clinical diagnosis remains uncertain.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
| pA |
|
|---|
Format Inist (serveur)
| NO : | PASCAL 11-0339545 INIST |
|---|---|
| ET : | Significance of Molecular Testing for Congenital Chloride Diarrhea |
| AU : | LECHNER (Silvia); RUEMMELE (Frank M.); ZANKL (Andreas); LAUSCH (Ekkehart); HUBER (Wolf-Dietrich); MIHATSCH (Walter); PHILLIPS (Alan D.); LEWINDON (Peter); QUERFELD (Uwe); HEINZ-ERIAN (Peter); MÜLLER (Thomas); JANECKE (Andreas R.) |
| AF : | Division of Human Genetics, Innsbruck Medical University/Innsbruck/Autriche (1 aut.); Université Paris Descartes, Faculté Necker, INSERM U989/Paris/France (2 aut.); Genetic Health Queensland, Royal Brisbane and Women's Hospital/Brisbane/Australie (3 aut.); Centre for Pediatric and Adolescent Medicine, Freiburg University Hospital/Freiburg/Allemagne (4 aut.); Department of Pediatrics, Medical University of Vienna/Vienna/Autriche (5 aut.); Deaconry Hospital/Schwaebisch Hall/Allemagne (6 aut.); Centre for Paediatric Gastroenterology, UCL Medical School, Royal Free Campus/London/Royaume-Uni (7 aut.); Royal Children's Hospital, Department of Gastroenterology/Herston/Australie (8 aut.); Department of Pediatric Nephrology, Charité/Berlin/Allemagne (9 aut.); Department of Pediatrics II, Innsbruck Medical University/Innsbruck/Autriche (10 aut., 11 aut., 12 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Journal of pediatric gastroenterology and nutrition; ISSN 0277-2116; Coden JPGND6; Etats-Unis; Da. 2011; Vol. 53; No. 1; Pp. 48-54; Bibl. 37 ref. |
| LA : | Anglais |
| EA : | Objectives: Autosomal recessive, congenital chloride diarrhea (CLD) is a form of persistent secretory diarrhea, presenting with polyhydramnios and intractable diarrhea from birth. CLD is caused by mutations in the SLC26A3 gene, encoding a Na+-independent Cl-/HCO3- exchanger. The diagnosis is generally made on the basis of high fecal chloride concentration in patients with serum electrolyte homoeostasis corrected by salt substitution. We aimed to evaluate the role of diagnostic genetic testing in CLD. Patients and Methods: Clinical and laboratory data were collected from 8 unrelated children diagnosed as having or suspected to have CLD. The evaluation included physical examination, routine clinical chemistry, and SLC26A3 mutation analysis by direct sequencing of DNA extracted from buccal swabs or peripheral leukocytes. Results: CLD was initially diagnosed on high fecal chloride concentrations in 7 patients, and by mutation analysis in 1 patient. In 3 of these patients the correct diagnosis was made more than 6 months after birth. We identified SLC26A3 mutations on both alleles in all 8 patients with CLD, including 3 novel missense and 4 novel truncating mutations. We present a compilation of reported SLC26A3 mutations and polymorphisms. Conclusions: The diagnosis and therapy of CLD were considerably delayed in 3 of 8 patients from this series, highlighting the potential of misdiagnosing CLD. We add 7 novel mutations, including 3 missense changes of highly conserved residues to a total of 41 mutations in this gene. Molecular analysis is efficient and should be considered as a means of early diagnosis of CLD, especially if the clinical diagnosis remains uncertain. |
| CC : | 002A16E |
| FD : | Diarrhée chlorée; Congénital; Chlorure; Hydrogénocarbonate; Intestin; Gastroentérologie; Maladie métabolique |
| FG : | Pathologie de l'appareil digestif; Maladie héréditaire |
| ED : | Familial chloride diarrhea; Congenital; Chlorides; Hydrogencarbonates; Gut; Gastroenterology; Metabolic diseases |
| EG : | Digestive diseases; Genetic disease |
| SD : | Diarrea clorada; Congénito; Cloruro; Hidrógenocarbonato; Intestino; Gastroenterología; Metabolismo patología |
| LO : | INIST-19156.354000190505180070 |
| ID : | 11-0339545 |
Links to Exploration step
Pascal:11-0339545Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Significance of Molecular Testing for Congenital Chloride Diarrhea</title><author><name sortKey="Lechner, Silvia" sort="Lechner, Silvia" uniqKey="Lechner S" first="Silvia" last="Lechner">Silvia Lechner</name><affiliation><inist:fA14 i1="01"><s1>Division of Human Genetics, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>1 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ruemmele, Frank M" sort="Ruemmele, Frank M" uniqKey="Ruemmele F" first="Frank M." last="Ruemmele">Frank M. Ruemmele</name><affiliation><inist:fA14 i1="02"><s1>Université Paris Descartes, Faculté Necker, INSERM U989</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><inist:fA14 i1="03"><s1>Genetic Health Queensland, Royal Brisbane and Women's Hospital</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>3 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lausch, Ekkehart" sort="Lausch, Ekkehart" uniqKey="Lausch E" first="Ekkehart" last="Lausch">Ekkehart Lausch</name><affiliation><inist:fA14 i1="04"><s1>Centre for Pediatric and Adolescent Medicine, Freiburg University Hospital</s1><s2>Freiburg</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Huber, Wolf Dietrich" sort="Huber, Wolf Dietrich" uniqKey="Huber W" first="Wolf-Dietrich" last="Huber">Wolf-Dietrich Huber</name><affiliation><inist:fA14 i1="05"><s1>Department of Pediatrics, Medical University of Vienna</s1><s2>Vienna</s2><s3>AUT</s3><sZ>5 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mihatsch, Walter" sort="Mihatsch, Walter" uniqKey="Mihatsch W" first="Walter" last="Mihatsch">Walter Mihatsch</name><affiliation><inist:fA14 i1="06"><s1>Deaconry Hospital</s1><s2>Schwaebisch Hall</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Phillips, Alan D" sort="Phillips, Alan D" uniqKey="Phillips A" first="Alan D." last="Phillips">Alan D. Phillips</name><affiliation><inist:fA14 i1="07"><s1>Centre for Paediatric Gastroenterology, UCL Medical School, Royal Free Campus</s1><s2>London</s2><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lewindon, Peter" sort="Lewindon, Peter" uniqKey="Lewindon P" first="Peter" last="Lewindon">Peter Lewindon</name><affiliation><inist:fA14 i1="08"><s1>Royal Children's Hospital, Department of Gastroenterology</s1><s2>Herston</s2><s3>AUS</s3><sZ>8 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Querfeld, Uwe" sort="Querfeld, Uwe" uniqKey="Querfeld U" first="Uwe" last="Querfeld">Uwe Querfeld</name><affiliation><inist:fA14 i1="09"><s1>Department of Pediatric Nephrology, Charité</s1><s2>Berlin</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Heinz Erian, Peter" sort="Heinz Erian, Peter" uniqKey="Heinz Erian P" first="Peter" last="Heinz-Erian">Peter Heinz-Erian</name><affiliation><inist:fA14 i1="10"><s1>Department of Pediatrics II, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name><affiliation><inist:fA14 i1="10"><s1>Department of Pediatrics II, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name><affiliation><inist:fA14 i1="10"><s1>Department of Pediatrics II, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0339545</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0339545 INIST</idno><idno type="RBID">Pascal:11-0339545</idno><idno type="wicri:Area/PascalFrancis/Corpus">001A82</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Significance of Molecular Testing for Congenital Chloride Diarrhea</title><author><name sortKey="Lechner, Silvia" sort="Lechner, Silvia" uniqKey="Lechner S" first="Silvia" last="Lechner">Silvia Lechner</name><affiliation><inist:fA14 i1="01"><s1>Division of Human Genetics, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>1 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Ruemmele, Frank M" sort="Ruemmele, Frank M" uniqKey="Ruemmele F" first="Frank M." last="Ruemmele">Frank M. Ruemmele</name><affiliation><inist:fA14 i1="02"><s1>Université Paris Descartes, Faculté Necker, INSERM U989</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><inist:fA14 i1="03"><s1>Genetic Health Queensland, Royal Brisbane and Women's Hospital</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>3 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lausch, Ekkehart" sort="Lausch, Ekkehart" uniqKey="Lausch E" first="Ekkehart" last="Lausch">Ekkehart Lausch</name><affiliation><inist:fA14 i1="04"><s1>Centre for Pediatric and Adolescent Medicine, Freiburg University Hospital</s1><s2>Freiburg</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Huber, Wolf Dietrich" sort="Huber, Wolf Dietrich" uniqKey="Huber W" first="Wolf-Dietrich" last="Huber">Wolf-Dietrich Huber</name><affiliation><inist:fA14 i1="05"><s1>Department of Pediatrics, Medical University of Vienna</s1><s2>Vienna</s2><s3>AUT</s3><sZ>5 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mihatsch, Walter" sort="Mihatsch, Walter" uniqKey="Mihatsch W" first="Walter" last="Mihatsch">Walter Mihatsch</name><affiliation><inist:fA14 i1="06"><s1>Deaconry Hospital</s1><s2>Schwaebisch Hall</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Phillips, Alan D" sort="Phillips, Alan D" uniqKey="Phillips A" first="Alan D." last="Phillips">Alan D. Phillips</name><affiliation><inist:fA14 i1="07"><s1>Centre for Paediatric Gastroenterology, UCL Medical School, Royal Free Campus</s1><s2>London</s2><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lewindon, Peter" sort="Lewindon, Peter" uniqKey="Lewindon P" first="Peter" last="Lewindon">Peter Lewindon</name><affiliation><inist:fA14 i1="08"><s1>Royal Children's Hospital, Department of Gastroenterology</s1><s2>Herston</s2><s3>AUS</s3><sZ>8 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Querfeld, Uwe" sort="Querfeld, Uwe" uniqKey="Querfeld U" first="Uwe" last="Querfeld">Uwe Querfeld</name><affiliation><inist:fA14 i1="09"><s1>Department of Pediatric Nephrology, Charité</s1><s2>Berlin</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Heinz Erian, Peter" sort="Heinz Erian, Peter" uniqKey="Heinz Erian P" first="Peter" last="Heinz-Erian">Peter Heinz-Erian</name><affiliation><inist:fA14 i1="10"><s1>Department of Pediatrics II, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name><affiliation><inist:fA14 i1="10"><s1>Department of Pediatrics II, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name><affiliation><inist:fA14 i1="10"><s1>Department of Pediatrics II, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author></analytic><series><title level="j" type="main">Journal of pediatric gastroenterology and nutrition</title><title level="j" type="abbreviated">J. pediatr. gastroenterol. nutr.</title><idno type="ISSN">0277-2116</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Journal of pediatric gastroenterology and nutrition</title><title level="j" type="abbreviated">J. pediatr. gastroenterol. nutr.</title><idno type="ISSN">0277-2116</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chlorides</term><term>Congenital</term><term>Familial chloride diarrhea</term><term>Gastroenterology</term><term>Gut</term><term>Hydrogencarbonates</term><term>Metabolic diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Diarrhée chlorée</term><term>Congénital</term><term>Chlorure</term><term>Hydrogénocarbonate</term><term>Intestin</term><term>Gastroentérologie</term><term>Maladie métabolique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objectives: Autosomal recessive, congenital chloride diarrhea (CLD) is a form of persistent secretory diarrhea, presenting with polyhydramnios and intractable diarrhea from birth. CLD is caused by mutations in the SLC26A3 gene, encoding a Na<sup>+</sup>-independent Cl<sup>-</sup>/HCO<sub>3</sub>- exchanger. The diagnosis is generally made on the basis of high fecal chloride concentration in patients with serum electrolyte homoeostasis corrected by salt substitution. We aimed to evaluate the role of diagnostic genetic testing in CLD. Patients and Methods: Clinical and laboratory data were collected from 8 unrelated children diagnosed as having or suspected to have CLD. The evaluation included physical examination, routine clinical chemistry, and SLC26A3 mutation analysis by direct sequencing of DNA extracted from buccal swabs or peripheral leukocytes. Results: CLD was initially diagnosed on high fecal chloride concentrations in 7 patients, and by mutation analysis in 1 patient. In 3 of these patients the correct diagnosis was made more than 6 months after birth. We identified SLC26A3 mutations on both alleles in all 8 patients with CLD, including 3 novel missense and 4 novel truncating mutations. We present a compilation of reported SLC26A3 mutations and polymorphisms. Conclusions: The diagnosis and therapy of CLD were considerably delayed in 3 of 8 patients from this series, highlighting the potential of misdiagnosing CLD. We add 7 novel mutations, including 3 missense changes of highly conserved residues to a total of 41 mutations in this gene. Molecular analysis is efficient and should be considered as a means of early diagnosis of CLD, especially if the clinical diagnosis remains uncertain.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0277-2116</s0></fA01><fA02 i1="01"><s0>JPGND6</s0></fA02><fA03 i2="1"><s0>J. pediatr. gastroenterol. nutr.</s0></fA03><fA05><s2>53</s2></fA05><fA06><s2>1</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Significance of Molecular Testing for Congenital Chloride Diarrhea</s1></fA08><fA11 i1="01" i2="1"><s1>LECHNER (Silvia)</s1></fA11><fA11 i1="02" i2="1"><s1>RUEMMELE (Frank M.)</s1></fA11><fA11 i1="03" i2="1"><s1>ZANKL (Andreas)</s1></fA11><fA11 i1="04" i2="1"><s1>LAUSCH (Ekkehart)</s1></fA11><fA11 i1="05" i2="1"><s1>HUBER (Wolf-Dietrich)</s1></fA11><fA11 i1="06" i2="1"><s1>MIHATSCH (Walter)</s1></fA11><fA11 i1="07" i2="1"><s1>PHILLIPS (Alan D.)</s1></fA11><fA11 i1="08" i2="1"><s1>LEWINDON (Peter)</s1></fA11><fA11 i1="09" i2="1"><s1>QUERFELD (Uwe)</s1></fA11><fA11 i1="10" i2="1"><s1>HEINZ-ERIAN (Peter)</s1></fA11><fA11 i1="11" i2="1"><s1>MÜLLER (Thomas)</s1></fA11><fA11 i1="12" i2="1"><s1>JANECKE (Andreas R.)</s1></fA11><fA14 i1="01"><s1>Division of Human Genetics, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Université Paris Descartes, Faculté Necker, INSERM U989</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>Genetic Health Queensland, Royal Brisbane and Women's Hospital</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>Centre for Pediatric and Adolescent Medicine, Freiburg University Hospital</s1><s2>Freiburg</s2><s3>DEU</s3><sZ>4 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Pediatrics, Medical University of Vienna</s1><s2>Vienna</s2><s3>AUT</s3><sZ>5 aut.</sZ></fA14><fA14 i1="06"><s1>Deaconry Hospital</s1><s2>Schwaebisch Hall</s2><s3>DEU</s3><sZ>6 aut.</sZ></fA14><fA14 i1="07"><s1>Centre for Paediatric Gastroenterology, UCL Medical School, Royal Free Campus</s1><s2>London</s2><s3>GBR</s3><sZ>7 aut.</sZ></fA14><fA14 i1="08"><s1>Royal Children's Hospital, Department of Gastroenterology</s1><s2>Herston</s2><s3>AUS</s3><sZ>8 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Pediatric Nephrology, Charité</s1><s2>Berlin</s2><s3>DEU</s3><sZ>9 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Pediatrics II, Innsbruck Medical University</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ></fA14><fA20><s1>48-54</s1></fA20><fA21><s1>2011</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>19156</s2><s5>354000190505180070</s5></fA43><fA44><s0>0000</s0><s1>© 2011 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>37 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>11-0339545</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Journal of pediatric gastroenterology and nutrition</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Objectives: Autosomal recessive, congenital chloride diarrhea (CLD) is a form of persistent secretory diarrhea, presenting with polyhydramnios and intractable diarrhea from birth. CLD is caused by mutations in the SLC26A3 gene, encoding a Na<sup>+</sup>-independent Cl<sup>-</sup>/HCO<sub>3</sub>- exchanger. The diagnosis is generally made on the basis of high fecal chloride concentration in patients with serum electrolyte homoeostasis corrected by salt substitution. We aimed to evaluate the role of diagnostic genetic testing in CLD. Patients and Methods: Clinical and laboratory data were collected from 8 unrelated children diagnosed as having or suspected to have CLD. The evaluation included physical examination, routine clinical chemistry, and SLC26A3 mutation analysis by direct sequencing of DNA extracted from buccal swabs or peripheral leukocytes. Results: CLD was initially diagnosed on high fecal chloride concentrations in 7 patients, and by mutation analysis in 1 patient. In 3 of these patients the correct diagnosis was made more than 6 months after birth. We identified SLC26A3 mutations on both alleles in all 8 patients with CLD, including 3 novel missense and 4 novel truncating mutations. We present a compilation of reported SLC26A3 mutations and polymorphisms. Conclusions: The diagnosis and therapy of CLD were considerably delayed in 3 of 8 patients from this series, highlighting the potential of misdiagnosing CLD. We add 7 novel mutations, including 3 missense changes of highly conserved residues to a total of 41 mutations in this gene. Molecular analysis is efficient and should be considered as a means of early diagnosis of CLD, especially if the clinical diagnosis remains uncertain.</s0></fC01><fC02 i1="01" i2="X"><s0>002A16E</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Diarrhée chlorée</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Familial chloride diarrhea</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Diarrea clorada</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Congénital</s0><s5>07</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Congenital</s0><s5>07</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Congénito</s0><s5>07</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Chlorure</s0><s2>NA</s2><s5>08</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Chlorides</s0><s2>NA</s2><s5>08</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Cloruro</s0><s2>NA</s2><s5>08</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Hydrogénocarbonate</s0><s2>NA</s2><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Hydrogencarbonates</s0><s2>NA</s2><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Hidrógenocarbonato</s0><s2>NA</s2><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Intestin</s0><s5>13</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Gut</s0><s5>13</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Intestino</s0><s5>13</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Gastroentérologie</s0><s5>14</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Gastroenterology</s0><s5>14</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Gastroenterología</s0><s5>14</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Maladie métabolique</s0><s5>15</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Metabolic diseases</s0><s5>15</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Metabolismo patología</s0><s5>15</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'appareil digestif</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Digestive diseases</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Aparato digestivo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>38</s5></fC07><fN21><s1>234</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 11-0339545 INIST</NO><ET>Significance of Molecular Testing for Congenital Chloride Diarrhea</ET><AU>LECHNER (Silvia); RUEMMELE (Frank M.); ZANKL (Andreas); LAUSCH (Ekkehart); HUBER (Wolf-Dietrich); MIHATSCH (Walter); PHILLIPS (Alan D.); LEWINDON (Peter); QUERFELD (Uwe); HEINZ-ERIAN (Peter); MÜLLER (Thomas); JANECKE (Andreas R.)</AU><AF>Division of Human Genetics, Innsbruck Medical University/Innsbruck/Autriche (1 aut.); Université Paris Descartes, Faculté Necker, INSERM U989/Paris/France (2 aut.); Genetic Health Queensland, Royal Brisbane and Women's Hospital/Brisbane/Australie (3 aut.); Centre for Pediatric and Adolescent Medicine, Freiburg University Hospital/Freiburg/Allemagne (4 aut.); Department of Pediatrics, Medical University of Vienna/Vienna/Autriche (5 aut.); Deaconry Hospital/Schwaebisch Hall/Allemagne (6 aut.); Centre for Paediatric Gastroenterology, UCL Medical School, Royal Free Campus/London/Royaume-Uni (7 aut.); Royal Children's Hospital, Department of Gastroenterology/Herston/Australie (8 aut.); Department of Pediatric Nephrology, Charité/Berlin/Allemagne (9 aut.); Department of Pediatrics II, Innsbruck Medical University/Innsbruck/Autriche (10 aut., 11 aut., 12 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Journal of pediatric gastroenterology and nutrition; ISSN 0277-2116; Coden JPGND6; Etats-Unis; Da. 2011; Vol. 53; No. 1; Pp. 48-54; Bibl. 37 ref.</SO><LA>Anglais</LA><EA>Objectives: Autosomal recessive, congenital chloride diarrhea (CLD) is a form of persistent secretory diarrhea, presenting with polyhydramnios and intractable diarrhea from birth. CLD is caused by mutations in the SLC26A3 gene, encoding a Na<sup>+</sup>-independent Cl<sup>-</sup>/HCO<sub>3</sub>- exchanger. The diagnosis is generally made on the basis of high fecal chloride concentration in patients with serum electrolyte homoeostasis corrected by salt substitution. We aimed to evaluate the role of diagnostic genetic testing in CLD. Patients and Methods: Clinical and laboratory data were collected from 8 unrelated children diagnosed as having or suspected to have CLD. The evaluation included physical examination, routine clinical chemistry, and SLC26A3 mutation analysis by direct sequencing of DNA extracted from buccal swabs or peripheral leukocytes. Results: CLD was initially diagnosed on high fecal chloride concentrations in 7 patients, and by mutation analysis in 1 patient. In 3 of these patients the correct diagnosis was made more than 6 months after birth. We identified SLC26A3 mutations on both alleles in all 8 patients with CLD, including 3 novel missense and 4 novel truncating mutations. We present a compilation of reported SLC26A3 mutations and polymorphisms. Conclusions: The diagnosis and therapy of CLD were considerably delayed in 3 of 8 patients from this series, highlighting the potential of misdiagnosing CLD. We add 7 novel mutations, including 3 missense changes of highly conserved residues to a total of 41 mutations in this gene. Molecular analysis is efficient and should be considered as a means of early diagnosis of CLD, especially if the clinical diagnosis remains uncertain.</EA><CC>002A16E</CC><FD>Diarrhée chlorée; Congénital; Chlorure; Hydrogénocarbonate; Intestin; Gastroentérologie; Maladie métabolique</FD><FG>Pathologie de l'appareil digestif; Maladie héréditaire</FG><ED>Familial chloride diarrhea; Congenital; Chlorides; Hydrogencarbonates; Gut; Gastroenterology; Metabolic diseases</ED><EG>Digestive diseases; Genetic disease</EG><SD>Diarrea clorada; Congénito; Cloruro; Hidrógenocarbonato; Intestino; Gastroenterología; Metabolismo patología</SD><LO>INIST-19156.354000190505180070</LO><ID>11-0339545</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PascalFrancis/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001A82 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 001A82 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= PascalFrancis
|étape= Corpus
|type= RBID
|clé= Pascal:11-0339545
|texte= Significance of Molecular Testing for Congenital Chloride Diarrhea
}}
| This area was generated with Dilib version V0.6.33. |  |