Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia
Identifieur interne : 002093 ( Ncbi/Merge ); précédent : 002092; suivant : 002094Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia
Auteurs : David A. Stevenson [États-Unis] ; Theodore J. Pysher [États-Unis] ; Robert M. Ward [États-Unis] ; John C. Carey [États-Unis]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2006.
Descripteurs français
- KwdFr :
- Adolescent, Chylothorax (), Chylothorax (génétique), Femelle, Grossesse, Gènes récessifs, Humains, Issue fatale, Lymphangiectasie (), Lymphangiectasie (génétique), Lymphoedème (), Lymphoedème (génétique), Maladies pulmonaires (), Maladies pulmonaires (génétique), Malformations multiples, Mâle, Nouveau-né, Oedème (), Oedème (génétique), Âge gestationnel, Épanchement pleural.
- MESH :
- génétique : Chylothorax, Lymphangiectasie, Lymphoedème, Maladies pulmonaires, Oedème.
- Adolescent, Chylothorax, Femelle, Grossesse, Gènes récessifs, Humains, Issue fatale, Lymphangiectasie, Lymphoedème, Maladies pulmonaires, Malformations multiples, Mâle, Nouveau-né, Oedème, Âge gestationnel, Épanchement pleural.
English descriptors
- KwdEn :
- Abnormalities, Multiple, Adolescent, Chylothorax (congenital), Chylothorax (genetics), Edema (congenital), Edema (genetics), Fatal Outcome, Female, Genes, Recessive, Gestational Age, Humans, Infant, Newborn, Lung Diseases (congenital), Lung Diseases (genetics), Lymphangiectasis (congenital), Lymphangiectasis (genetics), Lymphedema (congenital), Lymphedema (genetics), Male, Pleural Effusion, Pregnancy.
- MESH :
- congenital : Chylothorax, Edema, Lung Diseases, Lymphangiectasis, Lymphedema.
- genetics : Chylothorax, Edema, Lung Diseases, Lymphangiectasis, Lymphedema.
- Abnormalities, Multiple, Adolescent, Fatal Outcome, Female, Genes, Recessive, Gestational Age, Humans, Infant, Newborn, Male, Pleural Effusion, Pregnancy.
Abstract
Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectiasia (CPL) histologically in the first case.
Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in
Url:
DOI: 10.1002/ajmg.a.31093
PubMed: 16419129
PubMed Central: 2568883
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PMC:2568883Le document en format XML
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We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectiasia (CPL) histologically in the first case.</p><p id="P2">Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in <italic>VEGFR3</italic> in families with Milroy disease, mutations of <italic>FOXC2</italic> in the lymphedema-distichiasis syndrome, and fatal chylothorax in α9-deficient mice are potential candidate genes.</p></div></front></TEI><double pmid="16419129"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia</title><author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name><affiliation wicri:level="2"><nlm:aff id="A1">Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J." last="Pysher">Theodore J. Pysher</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Pathology, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Ward, Robert M" sort="Ward, Robert M" uniqKey="Ward R" first="Robert M." last="Ward">Robert M. Ward</name><affiliation wicri:level="2"><nlm:aff id="A3">Division of Neonatology, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation wicri:level="2"><nlm:aff id="A1">Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">16419129</idno><idno type="pmc">2568883</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2568883</idno><idno type="RBID">PMC:2568883</idno><idno type="doi">10.1002/ajmg.a.31093</idno><date when="2006">2006</date><idno type="wicri:Area/Pmc/Corpus">002818</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002818</idno><idno type="wicri:Area/Pmc/Curation">002817</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002817</idno><idno type="wicri:Area/Pmc/Checkpoint">003C76</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">003C76</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia</title><author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name><affiliation wicri:level="2"><nlm:aff id="A1">Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J." last="Pysher">Theodore J. Pysher</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Pathology, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Ward, Robert M" sort="Ward, Robert M" uniqKey="Ward R" first="Robert M." last="Ward">Robert M. Ward</name><affiliation wicri:level="2"><nlm:aff id="A3">Division of Neonatology, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation wicri:level="2"><nlm:aff id="A1">Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectiasia (CPL) histologically in the first case.</p><p id="P2">Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in <italic>VEGFR3</italic> in families with Milroy disease, mutations of <italic>FOXC2</italic> in the lymphedema-distichiasis syndrome, and fatal chylothorax in α9-deficient mice are potential candidate genes.</p></div></front></TEI></pmc><pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.</title><author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A" last="Stevenson">David A. Stevenson</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA. david.stevenson@hsc.utah.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132</wicri:regionArea><wicri:noRegion>Utah 84132</wicri:noRegion></affiliation></author><author><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J" last="Pysher">Theodore J. Pysher</name></author><author><name sortKey="Ward, Robert M" sort="Ward, Robert M" uniqKey="Ward R" first="Robert M" last="Ward">Robert M. Ward</name></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C" last="Carey">John C. Carey</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="RBID">pubmed:16419129</idno><idno type="pmid">16419129</idno><idno type="doi">10.1002/ajmg.a.31093</idno><idno type="wicri:Area/PubMed/Corpus">003B07</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003B07</idno><idno type="wicri:Area/PubMed/Curation">003B07</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003B07</idno><idno type="wicri:Area/PubMed/Checkpoint">003B07</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003B07</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.</title><author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A" last="Stevenson">David A. Stevenson</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA. david.stevenson@hsc.utah.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132</wicri:regionArea><wicri:noRegion>Utah 84132</wicri:noRegion></affiliation></author><author><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J" last="Pysher">Theodore J. Pysher</name></author><author><name sortKey="Ward, Robert M" sort="Ward, Robert M" uniqKey="Ward R" first="Robert M" last="Ward">Robert M. Ward</name></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C" last="Carey">John C. Carey</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple</term><term>Adolescent</term><term>Chylothorax (congenital)</term><term>Chylothorax (genetics)</term><term>Edema (congenital)</term><term>Edema (genetics)</term><term>Fatal Outcome</term><term>Female</term><term>Genes, Recessive</term><term>Gestational Age</term><term>Humans</term><term>Infant, Newborn</term><term>Lung Diseases (congenital)</term><term>Lung Diseases (genetics)</term><term>Lymphangiectasis (congenital)</term><term>Lymphangiectasis (genetics)</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Pleural Effusion</term><term>Pregnancy</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Chylothorax ()</term><term>Chylothorax (génétique)</term><term>Femelle</term><term>Grossesse</term><term>Gènes récessifs</term><term>Humains</term><term>Issue fatale</term><term>Lymphangiectasie ()</term><term>Lymphangiectasie (génétique)</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Maladies pulmonaires ()</term><term>Maladies pulmonaires (génétique)</term><term>Malformations multiples</term><term>Mâle</term><term>Nouveau-né</term><term>Oedème ()</term><term>Oedème (génétique)</term><term>Âge gestationnel</term><term>Épanchement pleural</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Chylothorax</term><term>Edema</term><term>Lung Diseases</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chylothorax</term><term>Edema</term><term>Lung Diseases</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chylothorax</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Maladies pulmonaires</term><term>Oedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Abnormalities, Multiple</term><term>Adolescent</term><term>Fatal Outcome</term><term>Female</term><term>Genes, Recessive</term><term>Gestational Age</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Pleural Effusion</term><term>Pregnancy</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Chylothorax</term><term>Femelle</term><term>Grossesse</term><term>Gènes récessifs</term><term>Humains</term><term>Issue fatale</term><term>Lymphangiectasie</term><term>Lymphoedème</term><term>Maladies pulmonaires</term><term>Malformations multiples</term><term>Mâle</term><term>Nouveau-né</term><term>Oedème</term><term>Âge gestationnel</term><term>Épanchement pleural</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.</div></front></TEI></pubmed></double></record>Pour manipuler ce document sous Unix (Dilib)
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