Alagille Syndrome in Adult Patients: It Is Never Too Late
Alagille syndrome (AGS; Online Mendelian Inheritance in Man no. 118450) is a multisystem autosomal dominant disorder with highly variable expression characterized by chronic cholestasis caused by a paucity of interlobular bile ducts, skeletal abnormalities, peculiar facies, ocular abnormalities, and...
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| Veröffentlicht in: | American journal of kidney diseases 2007-05, Vol.49 (5), p.705-709 |
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| creator | Jacquet, Antoine, MD Guiochon-Mantel, Anne, MD, PhD Noël, Laure-Hélène, MD Sqalli, Tarik, MD Bedossa, Pierre, MD, PhD Hadchouel, Michelle, MD Grünfeld, Jean-Pierre, MD Fakhouri, Fadi, MD |
| description | Alagille syndrome (AGS; Online Mendelian Inheritance in Man no. 118450) is a multisystem autosomal dominant disorder with highly variable expression characterized by chronic cholestasis caused by a paucity of interlobular bile ducts, skeletal abnormalities, peculiar facies, ocular abnormalities, and cardiovascular disorders. AGS is diagnosed almost exclusively in children in the setting of predominant liver manifestations or, more rarely, in their adult relatives. We report 2 patients in whom AGS was diagnosed in adulthood during the workup of renal disease in the absence of a well-defined familial history. Renal disease caused by AGS probably is underdiagnosed in adult patients. |
| doi_str_mv | 10.1053/j.ajkd.2007.02.262 |
| format | Article |
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AGS is diagnosed almost exclusively in children in the setting of predominant liver manifestations or, more rarely, in their adult relatives. We report 2 patients in whom AGS was diagnosed in adulthood during the workup of renal disease in the absence of a well-defined familial history. Renal disease caused by AGS probably is underdiagnosed in adult patients.</description><identifier>ISSN: 0272-6386</identifier><identifier>EISSN: 1523-6838</identifier><identifier>DOI: 10.1053/j.ajkd.2007.02.262</identifier><identifier>PMID: 17472854</identifier><language>eng</language><publisher>Orlando, FL: Elsevier Inc</publisher><subject>Adult ; Alagille Syndrome ; Alagille Syndrome - complications ; Alagille Syndrome - diagnosis ; Alagille Syndrome - surgery ; Biological and medical sciences ; Biotechnology ; Computer Science ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Humans ; Kidney Failure, Chronic ; Kidney Failure, Chronic - complications ; Kidney Failure, Chronic - diagnosis ; Kidney Failure, Chronic - surgery ; Life Sciences ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Medical sciences ; Nephrology ; Nephrology. Urinary tract diseases ; Nephropathies. Renovascular diseases. Renal failure ; Other diseases. Semiology ; Renal failure ; renovascular disease ; Time Factors</subject><ispartof>American journal of kidney diseases, 2007-05, Vol.49 (5), p.705-709</ispartof><rights>National Kidney Foundation, Inc.</rights><rights>2007 National Kidney Foundation, Inc.</rights><rights>2007 INIST-CNRS</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c476t-b5b0dba5dbf569976f877a7aefe6750593bd0256a14665814ff7e42e3f8937eb3</citedby><cites>FETCH-LOGICAL-c476t-b5b0dba5dbf569976f877a7aefe6750593bd0256a14665814ff7e42e3f8937eb3</cites><orcidid>0000-0003-1737-1409</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0272638607002569$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19143052$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17472854$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://inserm.hal.science/inserm-00178507$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Jacquet, Antoine, MD</creatorcontrib><creatorcontrib>Guiochon-Mantel, Anne, MD, PhD</creatorcontrib><creatorcontrib>Noël, Laure-Hélène, MD</creatorcontrib><creatorcontrib>Sqalli, Tarik, MD</creatorcontrib><creatorcontrib>Bedossa, Pierre, MD, PhD</creatorcontrib><creatorcontrib>Hadchouel, Michelle, MD</creatorcontrib><creatorcontrib>Grünfeld, Jean-Pierre, MD</creatorcontrib><creatorcontrib>Fakhouri, Fadi, MD</creatorcontrib><title>Alagille Syndrome in Adult Patients: It Is Never Too Late</title><title>American journal of kidney diseases</title><addtitle>Am J Kidney Dis</addtitle><description>Alagille syndrome (AGS; Online Mendelian Inheritance in Man no. 118450) is a multisystem autosomal dominant disorder with highly variable expression characterized by chronic cholestasis caused by a paucity of interlobular bile ducts, skeletal abnormalities, peculiar facies, ocular abnormalities, and cardiovascular disorders. AGS is diagnosed almost exclusively in children in the setting of predominant liver manifestations or, more rarely, in their adult relatives. We report 2 patients in whom AGS was diagnosed in adulthood during the workup of renal disease in the absence of a well-defined familial history. Renal disease caused by AGS probably is underdiagnosed in adult patients.</description><subject>Adult</subject><subject>Alagille Syndrome</subject><subject>Alagille Syndrome - complications</subject><subject>Alagille Syndrome - diagnosis</subject><subject>Alagille Syndrome - surgery</subject><subject>Biological and medical sciences</subject><subject>Biotechnology</subject><subject>Computer Science</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Humans</subject><subject>Kidney Failure, Chronic</subject><subject>Kidney Failure, Chronic - complications</subject><subject>Kidney Failure, Chronic - diagnosis</subject><subject>Kidney Failure, Chronic - surgery</subject><subject>Life Sciences</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Medical sciences</subject><subject>Nephrology</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Nephropathies. Renovascular diseases. Renal failure</subject><subject>Other diseases. Semiology</subject><subject>Renal failure</subject><subject>renovascular disease</subject><subject>Time Factors</subject><issn>0272-6386</issn><issn>1523-6838</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kkGL1DAUx4Mo7rj6BTxIL3qy9SVpkkZEGBZ1BwYVdj2HtH3VdNNmTdqB-fa2zOCCB0_v8vv_8_jlEfKSQkFB8Hd9Yfu7tmAAqgBWMMkekQ0VjOey4tVjsgGmWC55JS_Is5R6ANBcyqfkgqpSsUqUG6K33v503mN2cxzbGAbM3Jht29lP2Xc7ORyn9D7bTdkuZV_xgDG7DSHb2wmfkyed9QlfnOcl-fH50-3Vdb7_9mV3td3nTanklNeihra2oq07IbVWsquUsspih1IJEJrXLTAhLS2lFBUtu05hyZB3leYKa35J3p56f1lv7qMbbDyaYJ253u6NGxPGwQBQVQlQB7rgb074fQy_Z0yTGVxq0Hs7YpiTUVCWWku9gOwENjGkFLH7W07BrH5Nb1a_ZvVrgJnF7xJ6dW6f6wHbh8hZ6AK8PgM2NdZ30Y6NSw-cpiUHsRZ9OHG4qDs4jCY1i-wGWxexmUwb3P_3-PhPvPFudMuLd3jE1Ic5jsunGGoSM2Bu1ktYDwEUrLI1_wPoxaq6</recordid><startdate>20070501</startdate><enddate>20070501</enddate><creator>Jacquet, Antoine, MD</creator><creator>Guiochon-Mantel, Anne, MD, PhD</creator><creator>Noël, Laure-Hélène, MD</creator><creator>Sqalli, Tarik, MD</creator><creator>Bedossa, Pierre, MD, PhD</creator><creator>Hadchouel, Michelle, MD</creator><creator>Grünfeld, Jean-Pierre, MD</creator><creator>Fakhouri, Fadi, MD</creator><general>Elsevier 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><scope>1XC</scope><orcidid>https://orcid.org/0000-0003-1737-1409</orcidid></search><sort><creationdate>20070501</creationdate><title>Alagille Syndrome in Adult Patients: It Is Never Too Late</title><author>Jacquet, Antoine, MD ; Guiochon-Mantel, Anne, MD, PhD ; Noël, Laure-Hélène, MD ; Sqalli, Tarik, MD ; Bedossa, Pierre, MD, PhD ; Hadchouel, Michelle, MD ; Grünfeld, Jean-Pierre, MD ; Fakhouri, Fadi, MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c476t-b5b0dba5dbf569976f877a7aefe6750593bd0256a14665814ff7e42e3f8937eb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Alagille Syndrome</topic><topic>Alagille Syndrome - complications</topic><topic>Alagille Syndrome - diagnosis</topic><topic>Alagille Syndrome - surgery</topic><topic>Biological and medical sciences</topic><topic>Biotechnology</topic><topic>Computer Science</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Humans</topic><topic>Kidney Failure, Chronic</topic><topic>Kidney Failure, Chronic - complications</topic><topic>Kidney Failure, Chronic - diagnosis</topic><topic>Kidney Failure, Chronic - surgery</topic><topic>Life Sciences</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Medical sciences</topic><topic>Nephrology</topic><topic>Nephrology. Urinary tract diseases</topic><topic>Nephropathies. Renovascular diseases. Renal failure</topic><topic>Other diseases. Semiology</topic><topic>Renal failure</topic><topic>renovascular disease</topic><topic>Time Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jacquet, Antoine, MD</creatorcontrib><creatorcontrib>Guiochon-Mantel, Anne, MD, PhD</creatorcontrib><creatorcontrib>Noël, Laure-Hélène, MD</creatorcontrib><creatorcontrib>Sqalli, Tarik, MD</creatorcontrib><creatorcontrib>Bedossa, Pierre, MD, PhD</creatorcontrib><creatorcontrib>Hadchouel, Michelle, MD</creatorcontrib><creatorcontrib>Grünfeld, Jean-Pierre, MD</creatorcontrib><creatorcontrib>Fakhouri, Fadi, MD</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><collection>Hyper Article en Ligne (HAL)</collection><jtitle>American journal of kidney diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jacquet, Antoine, MD</au><au>Guiochon-Mantel, Anne, MD, PhD</au><au>Noël, Laure-Hélène, MD</au><au>Sqalli, Tarik, MD</au><au>Bedossa, Pierre, MD, PhD</au><au>Hadchouel, Michelle, MD</au><au>Grünfeld, Jean-Pierre, MD</au><au>Fakhouri, Fadi, MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Alagille Syndrome in Adult Patients: It Is Never Too Late</atitle><jtitle>American journal of kidney diseases</jtitle><addtitle>Am J Kidney Dis</addtitle><date>2007-05-01</date><risdate>2007</risdate><volume>49</volume><issue>5</issue><spage>705</spage><epage>709</epage><pages>705-709</pages><issn>0272-6386</issn><eissn>1523-6838</eissn><abstract>Alagille syndrome (AGS; Online Mendelian Inheritance in Man no. 118450) is a multisystem autosomal dominant disorder with highly variable expression characterized by chronic cholestasis caused by a paucity of interlobular bile ducts, skeletal abnormalities, peculiar facies, ocular abnormalities, and cardiovascular disorders. 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| identifier | ISSN: 0272-6386 |
| ispartof | American journal of kidney diseases, 2007-05, Vol.49 (5), p.705-709 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adult Alagille Syndrome Alagille Syndrome - complications Alagille Syndrome - diagnosis Alagille Syndrome - surgery Biological and medical sciences Biotechnology Computer Science Female Gastroenterology. Liver. Pancreas. Abdomen Humans Kidney Failure, Chronic Kidney Failure, Chronic - complications Kidney Failure, Chronic - diagnosis Kidney Failure, Chronic - surgery Life Sciences Liver. Biliary tract. Portal circulation. Exocrine pancreas Medical sciences Nephrology Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Other diseases. Semiology Renal failure renovascular disease Time Factors |
| title | Alagille Syndrome in Adult Patients: It Is Never Too Late |
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