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.
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Pour connaître la documentation sur le format Inist Standard.
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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 |
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<series><title level="j" type="main">Journal of pediatric gastroenterology and nutrition</title>
<title level="j" type="abbreviated">J. pediatr. gastroenterol. nutr.</title>
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<imprint><date when="2011">2011</date>
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<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>
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<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>
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<fA14 i1="01"><s1>Division of Human Genetics, Innsbruck Medical University</s1>
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</fA14>
<fA14 i1="03"><s1>Genetic Health Queensland, Royal Brisbane and Women's Hospital</s1>
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<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>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<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>
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