Pulmonary hypertension—A new manifestation of mitochondrial disease
Summary Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2005-12, Vol.28 (6), p.1081-1089 |
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| container_issue | 6 |
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| container_title | Journal of inherited metabolic disease |
| container_volume | 28 |
| creator | Barclay, A. R. Sholler, G. Christodolou, J. Shun, A. Arbuckle, S. Dorney, S. Stormon, M. O. |
| description | Summary
Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease. |
| doi_str_mv | 10.1007/s10545-005-4484-x |
| format | Article |
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Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-005-4484-x</identifier><identifier>PMID: 16435201</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Adenosine Triphosphate - metabolism ; Biological and medical sciences ; Electron Transport ; Errors of metabolism ; Fatal Outcome ; Fibroblasts - metabolism ; Humans ; Hypertension, Pulmonary - diagnosis ; Hypertension, Pulmonary - mortality ; Hypertension, Pulmonary - pathology ; Infant ; Infant, Newborn ; Liver - metabolism ; Liver Diseases - metabolism ; Liver Failure ; Liver Transplantation ; Male ; Medical genetics ; Medical sciences ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Mitochondria - metabolism ; Mitochondrial Diseases - diagnosis ; Mitochondrial Diseases - mortality ; Mitochondrial Diseases - pathology ; Pneumology ; Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases ; Skin - metabolism ; Time Factors</subject><ispartof>Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1081-1089</ispartof><rights>2005 SSIEM</rights><rights>2006 INIST-CNRS</rights><rights>SSIEM and Springer 2005</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4041-ef13b5a3ac01877e5a3e321afab36ee497b4ae3ec4d5a97a7d1b4e22cabaf9e83</citedby><cites>FETCH-LOGICAL-c4041-ef13b5a3ac01877e5a3e321afab36ee497b4ae3ec4d5a97a7d1b4e22cabaf9e83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1007%2Fs10545-005-4484-x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1007%2Fs10545-005-4484-x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17465108$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16435201$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Barclay, A. R.</creatorcontrib><creatorcontrib>Sholler, G.</creatorcontrib><creatorcontrib>Christodolou, J.</creatorcontrib><creatorcontrib>Shun, A.</creatorcontrib><creatorcontrib>Arbuckle, S.</creatorcontrib><creatorcontrib>Dorney, S.</creatorcontrib><creatorcontrib>Stormon, M. O.</creatorcontrib><title>Pulmonary hypertension—A new manifestation of mitochondrial disease</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Summary
Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease.</description><subject>Adenosine Triphosphate - metabolism</subject><subject>Biological and medical sciences</subject><subject>Electron Transport</subject><subject>Errors of metabolism</subject><subject>Fatal Outcome</subject><subject>Fibroblasts - metabolism</subject><subject>Humans</subject><subject>Hypertension, Pulmonary - diagnosis</subject><subject>Hypertension, Pulmonary - mortality</subject><subject>Hypertension, Pulmonary - pathology</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Liver - metabolism</subject><subject>Liver Diseases - metabolism</subject><subject>Liver Failure</subject><subject>Liver Transplantation</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Mitochondria - metabolism</subject><subject>Mitochondrial Diseases - diagnosis</subject><subject>Mitochondrial Diseases - mortality</subject><subject>Mitochondrial Diseases - pathology</subject><subject>Pneumology</subject><subject>Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases</subject><subject>Skin - metabolism</subject><subject>Time Factors</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkM1O3DAURq0KVKa0D9BNFSHBLsU3tuNkifhpqUDtol1bN86NMErsqT0RzI6H4Al5EjyakZC66cqWdb7r7x7GPgP_Cpzr0wRcSVVyrkopG1k-vmMLUFqUVV2rPbbgIKFsWqUO2IeU7jnnbaPUe3YAtRSq4rBgl7_mcQoe47q4Wy8prsgnF_zL0_NZ4emhmNC7gdIKV_m1CEMxuVWwd8H30eFY9C4RJvrI9gccE33anYfsz9Xl7_Pv5c3Pb9fnZzellTxXoQFEp1Cg5dBoTflKogIcsBM1kWx1J5EEWdkrbDXqHjpJVWWxw6GlRhyyk-3cZQx_51zLTC5ZGkf0FOZk6pY3AHWdwaN_wPswR5-7mQqaBrSUKkOwhWwMKUUazDK6KaswwM1GsNkKNlmw2Qg2jznzZTd47ibq3xI7oxk43gGYLI5DRG9deuO0rBXwzSp6yz24kdb__9n8uL69yEEQr8t9lfw</recordid><startdate>200512</startdate><enddate>200512</enddate><creator>Barclay, A. 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O.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4041-ef13b5a3ac01877e5a3e321afab36ee497b4ae3ec4d5a97a7d1b4e22cabaf9e83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adenosine Triphosphate - metabolism</topic><topic>Biological and medical sciences</topic><topic>Electron Transport</topic><topic>Errors of metabolism</topic><topic>Fatal Outcome</topic><topic>Fibroblasts - metabolism</topic><topic>Humans</topic><topic>Hypertension, Pulmonary - diagnosis</topic><topic>Hypertension, Pulmonary - mortality</topic><topic>Hypertension, Pulmonary - pathology</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Liver - metabolism</topic><topic>Liver Diseases - metabolism</topic><topic>Liver Failure</topic><topic>Liver Transplantation</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Mitochondria - metabolism</topic><topic>Mitochondrial Diseases - diagnosis</topic><topic>Mitochondrial Diseases - mortality</topic><topic>Mitochondrial Diseases - pathology</topic><topic>Pneumology</topic><topic>Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases</topic><topic>Skin - metabolism</topic><topic>Time Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Barclay, A. R.</creatorcontrib><creatorcontrib>Sholler, G.</creatorcontrib><creatorcontrib>Christodolou, J.</creatorcontrib><creatorcontrib>Shun, A.</creatorcontrib><creatorcontrib>Arbuckle, S.</creatorcontrib><creatorcontrib>Dorney, S.</creatorcontrib><creatorcontrib>Stormon, M. 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R.</au><au>Sholler, G.</au><au>Christodolou, J.</au><au>Shun, A.</au><au>Arbuckle, S.</au><au>Dorney, S.</au><au>Stormon, M. O.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pulmonary hypertension—A new manifestation of mitochondrial disease</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2005-12</date><risdate>2005</risdate><volume>28</volume><issue>6</issue><spage>1081</spage><epage>1089</epage><pages>1081-1089</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Summary
Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>16435201</pmid><doi>10.1007/s10545-005-4484-x</doi><tpages>9</tpages></addata></record> |
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| ispartof | Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1081-1089 |
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| subjects | Adenosine Triphosphate - metabolism Biological and medical sciences Electron Transport Errors of metabolism Fatal Outcome Fibroblasts - metabolism Humans Hypertension, Pulmonary - diagnosis Hypertension, Pulmonary - mortality Hypertension, Pulmonary - pathology Infant Infant, Newborn Liver - metabolism Liver Diseases - metabolism Liver Failure Liver Transplantation Male Medical genetics Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Mitochondria - metabolism Mitochondrial Diseases - diagnosis Mitochondrial Diseases - mortality Mitochondrial Diseases - pathology Pneumology Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases Skin - metabolism Time Factors |
| title | Pulmonary hypertension—A new manifestation of mitochondrial disease |
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