Antenatal manifestations of mitochondrial respiratory chain deficiency
Objective To review the antenatal manifestations of disorders of oxidative phosphorylation. Study design A total of 300 cases of proven respiratory chain enzyme deficiency were retrospectively reviewed for fetal development, based on course and duration of pregnancy, antenatal ultrasonography and bi...
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| Veröffentlicht in: | The Journal of pediatrics 2003-08, Vol.143 (2), p.208-212 |
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| creator | von Kleist-Retzow, Jürgen-Christoph Cormier-Daire, Valérie Viot, Géraldine Goldenberg, Alice Mardach, Becky Amiel, Jeanne Saada, Philippe Dumez, Yves Brunelle, Francis Saudubray, Jean-Marie Chrétien, Dominique Rötig, Agnès Rustin, Pierre Munnich, Arnold De Lonlay, Pascale |
| description | Objective To review the antenatal manifestations of disorders of oxidative phosphorylation.
Study design A total of 300 cases of proven respiratory chain enzyme deficiency were retrospectively reviewed for fetal development, based on course and duration of pregnancy, antenatal ultrasonography and birth weight, length, and head circumference. Particular attention was given to fetal movements, oligo/hydramnios, fetal cardiac rhythm, fetal heart ultrasound, and ultrasonography/echo Doppler signs of brain, facial, trunk, limb, and organ anomalies.
Results Retrospective analyses detected low birth weight ( |
| doi_str_mv | 10.1067/S0022-3476(03)00130-6 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73650213</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0022347603001306</els_id><sourcerecordid>73650213</sourcerecordid><originalsourceid>FETCH-LOGICAL-c391t-61f7d97dba81e27e98201b12c95491a0f42e4e76268914bdae1e3ed737d1464f3</originalsourceid><addsrcrecordid>eNqFkMFuEzEQhi0EoqHwCKC9UMFhy4ztteMTqqoWkCpxKJwtxx6rRrt2sDdIeXu2SUSPnOYw3z_z62PsLcIlgtKf7gE474XU6gOIjwAooFfP2ArB6F6thXjOVv-QM_aqtV8AYCTAS3aG3GhQQq7Y7VWeKbvZjd3kcorUZjenkltXYjelufiHkkNNy75S26bq5lL3nX9wKXeBYvKJst-_Zi-iGxu9Oc1z9vP25sf11_7u-5dv11d3vRcG515h1MHosHFrJK7JrDngBrk3gzToIEpOkrTiam1QboIjJEFBCx1QKhnFObs43t3W8nu3lLVTap7G0WUqu2a1UANwFAs4HEFfS2uVot3WNLm6twj2UaA9CLSPdiwIexBo1ZJ7d3qw20wUnlInYwvw_gS45t0Yq8s-tSduQBBiGBbu85GjRcefRNW2gyoKqZKfbSjpP1X-Apg6jM8</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>73650213</pqid></control><display><type>article</type><title>Antenatal manifestations of mitochondrial respiratory chain deficiency</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>von Kleist-Retzow, Jürgen-Christoph ; Cormier-Daire, Valérie ; Viot, Géraldine ; Goldenberg, Alice ; Mardach, Becky ; Amiel, Jeanne ; Saada, Philippe ; Dumez, Yves ; Brunelle, Francis ; Saudubray, Jean-Marie ; Chrétien, Dominique ; Rötig, Agnès ; Rustin, Pierre ; Munnich, Arnold ; De Lonlay, Pascale</creator><creatorcontrib>von Kleist-Retzow, Jürgen-Christoph ; Cormier-Daire, Valérie ; Viot, Géraldine ; Goldenberg, Alice ; Mardach, Becky ; Amiel, Jeanne ; Saada, Philippe ; Dumez, Yves ; Brunelle, Francis ; Saudubray, Jean-Marie ; Chrétien, Dominique ; Rötig, Agnès ; Rustin, Pierre ; Munnich, Arnold ; De Lonlay, Pascale</creatorcontrib><description>Objective To review the antenatal manifestations of disorders of oxidative phosphorylation.
Study design A total of 300 cases of proven respiratory chain enzyme deficiency were retrospectively reviewed for fetal development, based on course and duration of pregnancy, antenatal ultrasonography and birth weight, length, and head circumference. Particular attention was given to fetal movements, oligo/hydramnios, fetal cardiac rhythm, fetal heart ultrasound, and ultrasonography/echo Doppler signs of brain, facial, trunk, limb, and organ anomalies.
Results Retrospective analyses detected low birth weight (<3rd percentile for gestational age) in 22.7% of cases (68/300,
P<.000001). Intrauterine growth retardation was either isolated (48/300, 16%) or associated with otherwise unexplained anomalies (20/300, 6.7%,
P<.0001). Antenatal anomalies were usually multiple and involved several organs sharing no common function or embryologic origin. They included polyhydramnios (6/20), oligoamnios (2/20), arthrogryposis (1/20), decreased fetal movements (1/20), ventricular septal defects (2/20), hypertrophic cardiomyopathy (4/20), cardiac rhythm anomalies (4/20), hydronephrosis (3/20), vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula/atresia, renal agenesis and dysplasia, and limb defects (VACTERL) association (2/20), and a complex gastrointestinal malformation (1/20).
Conclusions Although a number of metabolic diseases undergo a symptom-free period, respiratory chain deficiency may have an early antenatal expression, presumably related to the time course of the disease gene expression in the embryofetal period. The mechanism triggering malformations is unknown and may include decreased ATP formation and/or an alteration of apoptotic events controlled by the mitochondria.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1067/S0022-3476(03)00130-6</identifier><identifier>PMID: 12970634</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>Biological and medical sciences ; Birth Weight ; Congenital Abnormalities ; Diseases of mother, fetus and pregnancy ; Embryonic and Fetal Development - physiology ; Female ; Fetal Growth Retardation - complications ; Fetal Heart - physiopathology ; Fetal Movement - physiology ; Gynecology. Andrology. Obstetrics ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Medical sciences ; Mitochondrial Diseases - embryology ; Pregnancy ; Pregnancy. Fetus. Placenta ; Retrospective Studies ; Ultrasonography, Prenatal</subject><ispartof>The Journal of pediatrics, 2003-08, Vol.143 (2), p.208-212</ispartof><rights>2003 Mosby, Inc.</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c391t-61f7d97dba81e27e98201b12c95491a0f42e4e76268914bdae1e3ed737d1464f3</citedby><cites>FETCH-LOGICAL-c391t-61f7d97dba81e27e98201b12c95491a0f42e4e76268914bdae1e3ed737d1464f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1067/S0022-3476(03)00130-6$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,777,781,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15103355$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12970634$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>von Kleist-Retzow, Jürgen-Christoph</creatorcontrib><creatorcontrib>Cormier-Daire, Valérie</creatorcontrib><creatorcontrib>Viot, Géraldine</creatorcontrib><creatorcontrib>Goldenberg, Alice</creatorcontrib><creatorcontrib>Mardach, Becky</creatorcontrib><creatorcontrib>Amiel, Jeanne</creatorcontrib><creatorcontrib>Saada, Philippe</creatorcontrib><creatorcontrib>Dumez, Yves</creatorcontrib><creatorcontrib>Brunelle, Francis</creatorcontrib><creatorcontrib>Saudubray, Jean-Marie</creatorcontrib><creatorcontrib>Chrétien, Dominique</creatorcontrib><creatorcontrib>Rötig, Agnès</creatorcontrib><creatorcontrib>Rustin, Pierre</creatorcontrib><creatorcontrib>Munnich, Arnold</creatorcontrib><creatorcontrib>De Lonlay, Pascale</creatorcontrib><title>Antenatal manifestations of mitochondrial respiratory chain deficiency</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Objective To review the antenatal manifestations of disorders of oxidative phosphorylation.
Study design A total of 300 cases of proven respiratory chain enzyme deficiency were retrospectively reviewed for fetal development, based on course and duration of pregnancy, antenatal ultrasonography and birth weight, length, and head circumference. Particular attention was given to fetal movements, oligo/hydramnios, fetal cardiac rhythm, fetal heart ultrasound, and ultrasonography/echo Doppler signs of brain, facial, trunk, limb, and organ anomalies.
Results Retrospective analyses detected low birth weight (<3rd percentile for gestational age) in 22.7% of cases (68/300,
P<.000001). Intrauterine growth retardation was either isolated (48/300, 16%) or associated with otherwise unexplained anomalies (20/300, 6.7%,
P<.0001). Antenatal anomalies were usually multiple and involved several organs sharing no common function or embryologic origin. They included polyhydramnios (6/20), oligoamnios (2/20), arthrogryposis (1/20), decreased fetal movements (1/20), ventricular septal defects (2/20), hypertrophic cardiomyopathy (4/20), cardiac rhythm anomalies (4/20), hydronephrosis (3/20), vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula/atresia, renal agenesis and dysplasia, and limb defects (VACTERL) association (2/20), and a complex gastrointestinal malformation (1/20).
Conclusions Although a number of metabolic diseases undergo a symptom-free period, respiratory chain deficiency may have an early antenatal expression, presumably related to the time course of the disease gene expression in the embryofetal period. The mechanism triggering malformations is unknown and may include decreased ATP formation and/or an alteration of apoptotic events controlled by the mitochondria.</description><subject>Biological and medical sciences</subject><subject>Birth Weight</subject><subject>Congenital Abnormalities</subject><subject>Diseases of mother, fetus and pregnancy</subject><subject>Embryonic and Fetal Development - physiology</subject><subject>Female</subject><subject>Fetal Growth Retardation - complications</subject><subject>Fetal Heart - physiopathology</subject><subject>Fetal Movement - physiology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Infant, Low Birth Weight</subject><subject>Infant, Newborn</subject><subject>Medical sciences</subject><subject>Mitochondrial Diseases - embryology</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Retrospective Studies</subject><subject>Ultrasonography, Prenatal</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMFuEzEQhi0EoqHwCKC9UMFhy4ztteMTqqoWkCpxKJwtxx6rRrt2sDdIeXu2SUSPnOYw3z_z62PsLcIlgtKf7gE474XU6gOIjwAooFfP2ArB6F6thXjOVv-QM_aqtV8AYCTAS3aG3GhQQq7Y7VWeKbvZjd3kcorUZjenkltXYjelufiHkkNNy75S26bq5lL3nX9wKXeBYvKJst-_Zi-iGxu9Oc1z9vP25sf11_7u-5dv11d3vRcG515h1MHosHFrJK7JrDngBrk3gzToIEpOkrTiam1QboIjJEFBCx1QKhnFObs43t3W8nu3lLVTap7G0WUqu2a1UANwFAs4HEFfS2uVot3WNLm6twj2UaA9CLSPdiwIexBo1ZJ7d3qw20wUnlInYwvw_gS45t0Yq8s-tSduQBBiGBbu85GjRcefRNW2gyoKqZKfbSjpP1X-Apg6jM8</recordid><startdate>20030801</startdate><enddate>20030801</enddate><creator>von Kleist-Retzow, Jürgen-Christoph</creator><creator>Cormier-Daire, Valérie</creator><creator>Viot, Géraldine</creator><creator>Goldenberg, Alice</creator><creator>Mardach, Becky</creator><creator>Amiel, Jeanne</creator><creator>Saada, Philippe</creator><creator>Dumez, Yves</creator><creator>Brunelle, Francis</creator><creator>Saudubray, Jean-Marie</creator><creator>Chrétien, Dominique</creator><creator>Rötig, Agnès</creator><creator>Rustin, Pierre</creator><creator>Munnich, Arnold</creator><creator>De Lonlay, Pascale</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20030801</creationdate><title>Antenatal manifestations of mitochondrial respiratory chain deficiency</title><author>von Kleist-Retzow, Jürgen-Christoph ; Cormier-Daire, Valérie ; Viot, Géraldine ; Goldenberg, Alice ; Mardach, Becky ; Amiel, Jeanne ; Saada, Philippe ; Dumez, Yves ; Brunelle, Francis ; Saudubray, Jean-Marie ; Chrétien, Dominique ; Rötig, Agnès ; Rustin, Pierre ; Munnich, Arnold ; De Lonlay, Pascale</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c391t-61f7d97dba81e27e98201b12c95491a0f42e4e76268914bdae1e3ed737d1464f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Biological and medical sciences</topic><topic>Birth Weight</topic><topic>Congenital Abnormalities</topic><topic>Diseases of mother, fetus and pregnancy</topic><topic>Embryonic and Fetal Development - physiology</topic><topic>Female</topic><topic>Fetal Growth Retardation - complications</topic><topic>Fetal Heart - physiopathology</topic><topic>Fetal Movement - physiology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Infant, Low Birth Weight</topic><topic>Infant, Newborn</topic><topic>Medical sciences</topic><topic>Mitochondrial Diseases - embryology</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Retrospective Studies</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>von Kleist-Retzow, Jürgen-Christoph</creatorcontrib><creatorcontrib>Cormier-Daire, Valérie</creatorcontrib><creatorcontrib>Viot, Géraldine</creatorcontrib><creatorcontrib>Goldenberg, Alice</creatorcontrib><creatorcontrib>Mardach, Becky</creatorcontrib><creatorcontrib>Amiel, Jeanne</creatorcontrib><creatorcontrib>Saada, Philippe</creatorcontrib><creatorcontrib>Dumez, Yves</creatorcontrib><creatorcontrib>Brunelle, Francis</creatorcontrib><creatorcontrib>Saudubray, Jean-Marie</creatorcontrib><creatorcontrib>Chrétien, Dominique</creatorcontrib><creatorcontrib>Rötig, Agnès</creatorcontrib><creatorcontrib>Rustin, Pierre</creatorcontrib><creatorcontrib>Munnich, Arnold</creatorcontrib><creatorcontrib>De Lonlay, Pascale</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>von Kleist-Retzow, Jürgen-Christoph</au><au>Cormier-Daire, Valérie</au><au>Viot, Géraldine</au><au>Goldenberg, Alice</au><au>Mardach, Becky</au><au>Amiel, Jeanne</au><au>Saada, Philippe</au><au>Dumez, Yves</au><au>Brunelle, Francis</au><au>Saudubray, Jean-Marie</au><au>Chrétien, Dominique</au><au>Rötig, Agnès</au><au>Rustin, Pierre</au><au>Munnich, Arnold</au><au>De Lonlay, Pascale</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Antenatal manifestations of mitochondrial respiratory chain deficiency</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2003-08-01</date><risdate>2003</risdate><volume>143</volume><issue>2</issue><spage>208</spage><epage>212</epage><pages>208-212</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><abstract>Objective To review the antenatal manifestations of disorders of oxidative phosphorylation.
Study design A total of 300 cases of proven respiratory chain enzyme deficiency were retrospectively reviewed for fetal development, based on course and duration of pregnancy, antenatal ultrasonography and birth weight, length, and head circumference. Particular attention was given to fetal movements, oligo/hydramnios, fetal cardiac rhythm, fetal heart ultrasound, and ultrasonography/echo Doppler signs of brain, facial, trunk, limb, and organ anomalies.
Results Retrospective analyses detected low birth weight (<3rd percentile for gestational age) in 22.7% of cases (68/300,
P<.000001). Intrauterine growth retardation was either isolated (48/300, 16%) or associated with otherwise unexplained anomalies (20/300, 6.7%,
P<.0001). Antenatal anomalies were usually multiple and involved several organs sharing no common function or embryologic origin. They included polyhydramnios (6/20), oligoamnios (2/20), arthrogryposis (1/20), decreased fetal movements (1/20), ventricular septal defects (2/20), hypertrophic cardiomyopathy (4/20), cardiac rhythm anomalies (4/20), hydronephrosis (3/20), vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula/atresia, renal agenesis and dysplasia, and limb defects (VACTERL) association (2/20), and a complex gastrointestinal malformation (1/20).
Conclusions Although a number of metabolic diseases undergo a symptom-free period, respiratory chain deficiency may have an early antenatal expression, presumably related to the time course of the disease gene expression in the embryofetal period. The mechanism triggering malformations is unknown and may include decreased ATP formation and/or an alteration of apoptotic events controlled by the mitochondria.</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>12970634</pmid><doi>10.1067/S0022-3476(03)00130-6</doi><tpages>5</tpages></addata></record> |
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| subjects | Biological and medical sciences Birth Weight Congenital Abnormalities Diseases of mother, fetus and pregnancy Embryonic and Fetal Development - physiology Female Fetal Growth Retardation - complications Fetal Heart - physiopathology Fetal Movement - physiology Gynecology. Andrology. Obstetrics Humans Infant, Low Birth Weight Infant, Newborn Medical sciences Mitochondrial Diseases - embryology Pregnancy Pregnancy. Fetus. Placenta Retrospective Studies Ultrasonography, Prenatal |
| title | Antenatal manifestations of mitochondrial respiratory chain deficiency |
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