Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia
Identifieur interne : 002817 ( Pmc/Curation ); précédent : 002816; suivant : 002818Familial 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.
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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Stevenson</name><affiliation wicri:level="1"><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></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="1"><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></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="1"><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></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="1"><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></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 article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235741</journal-id><journal-id journal-id-type="pubmed-jr-id">32200</journal-id><journal-id journal-id-type="nlm-ta">Am J Med Genet A</journal-id><journal-title>American journal of medical genetics. Part A</journal-title><issn pub-type="ppub">1552-4825</issn><issn pub-type="epub">1552-4833</issn></journal-meta><article-meta><article-id pub-id-type="pmid">16419129</article-id><article-id pub-id-type="pmc">2568883</article-id><article-id pub-id-type="doi">10.1002/ajmg.a.31093</article-id><article-id pub-id-type="manuscript">NIHMS68075</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Familial Congenital Nonimmune Hydrops, Chylothorax and Pulmonary Lymphangiectasia</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Stevenson</surname><given-names>David A.</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Pysher</surname><given-names>Theodore J.</given-names></name><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Ward</surname><given-names>Robert M.</given-names></name><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Carey</surname><given-names>John C.</given-names></name><xref rid="A1" ref-type="aff">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Division of Medical Genetics, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</aff><aff id="A2"><label>2</label>Department of Pathology, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</aff><aff id="A3"><label>3</label>Division of Neonatology, Dept. of Pediatrics, University of Utah, Salt Lake City, 50 N. Medical Dr., Salt Lake City, Utah, USA</aff><author-notes><corresp id="FN1">Corresponding author: David A. Stevenson, MD, University of Utah Health Sciences Center, Department of Pediatrics, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, Telephone: (801) 581-8943, Fax: (801) 585-7252, E-mail: <email>david.stevenson@hsc.utah.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>8</day><month>9</month><year>2008</year></pub-date><pub-date pub-type="ppub"><day>15</day><month>2</month><year>2006</year></pub-date><pub-date pub-type="pmc-release"><day>16</day><month>10</month><year>2008</year></pub-date><volume>140</volume><issue>4</issue><fpage>368</fpage><lpage>372</lpage><abstract><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></abstract><kwd-group><kwd>chylothorax</kwd><kwd>congenital pulmonary lymphangiectasia</kwd><kwd>familial</kwd><kwd>hydrops</kwd></kwd-group><contract-num rid="NS1">K23 NS052500-01
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