Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1 , ABCB11 and ABCB4 , respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile. Mutations in ABCB4 can result in progressive choles...
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| Veröffentlicht in: | Baillière's best practice & research. Clinical gastroenterology 2010-10, Vol.24 (5), p.541-553 |
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| creator | van der Woerd, Wendy L., MD van Mil, Saskia W.C., PhD Stapelbroek, Janneke M., MD, PhD Klomp, Leo W.J., PhD van de Graaf, Stan F.J., PhD Houwen, Roderick H.J., MD, PhD |
| description | Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1 , ABCB11 and ABCB4 , respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile. Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease. This suggests a clinical continuum and these diseases are therefore preferably referred to as ATP8B1 deficiency and ABCB11 deficiency. Similarly PFIC type 3 is designated as ABCB4 deficiency. Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis of pregnancy. This review summarizes the pathophysiology, clinical features and current as well as future therapeutic options for progressive familial- and benign recurrent intrahepatic cholestasis as well as intrahepatic cholestasis of pregnancy. |
| doi_str_mv | 10.1016/j.bpg.2010.07.010 |
| format | Article |
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Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile. Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease. This suggests a clinical continuum and these diseases are therefore preferably referred to as ATP8B1 deficiency and ABCB11 deficiency. Similarly PFIC type 3 is designated as ABCB4 deficiency. Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis of pregnancy. This review summarizes the pathophysiology, clinical features and current as well as future therapeutic options for progressive familial- and benign recurrent intrahepatic cholestasis as well as intrahepatic cholestasis of pregnancy.</description><identifier>ISSN: 1521-6918</identifier><identifier>EISSN: 1532-1916</identifier><identifier>DOI: 10.1016/j.bpg.2010.07.010</identifier><identifier>PMID: 20955958</identifier><identifier>CODEN: BPRCB6</identifier><language>eng</language><publisher>Netherlands: Elsevier Ltd</publisher><subject>ABCB11 ; ABCB4 ; Adenosine Triphosphatases - genetics ; ATP Binding Cassette Subfamily B Member 11 ; ATP Binding Cassette Transporter, Sub-Family B - genetics ; ATP-Binding Cassette Transporters - genetics ; ATP8B1 ; Benign recurrent intrahepatic cholestasis ; Bile Acids and Salts - analysis ; BRIC ; Cholestasis, Intrahepatic - classification ; Cholestasis, Intrahepatic - diagnosis ; Cholestasis, Intrahepatic - etiology ; Cholestasis, Intrahepatic - genetics ; Cholestasis, Intrahepatic - physiopathology ; Cholestasis, Intrahepatic - therapy ; Disease Progression ; Female ; Gastroenterology and Hepatology ; Humans ; ICP ; Intrahepatic cholestasis of pregnancy ; Mutation ; PFIC ; Pregnancy ; Pregnancy Complications - etiology ; Pregnancy Complications - genetics ; Pregnancy Complications - therapy ; Progressive familial intrahepatic cholestasis ; Recurrence ; Ursodeoxycholic Acid - therapeutic use</subject><ispartof>Baillière's best practice & research. Clinical gastroenterology, 2010-10, Vol.24 (5), p.541-553</ispartof><rights>Elsevier Ltd</rights><rights>2010 Elsevier Ltd</rights><rights>Copyright © 2010 Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c501t-db3d6b8b4c2c5141df9e90b12e85961ccb04ceca6e89c36b790cfdc2570d19033</citedby><cites>FETCH-LOGICAL-c501t-db3d6b8b4c2c5141df9e90b12e85961ccb04ceca6e89c36b790cfdc2570d19033</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1521691810000892$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20955958$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>van der Woerd, Wendy L., MD</creatorcontrib><creatorcontrib>van Mil, Saskia W.C., PhD</creatorcontrib><creatorcontrib>Stapelbroek, Janneke M., MD, PhD</creatorcontrib><creatorcontrib>Klomp, Leo W.J., PhD</creatorcontrib><creatorcontrib>van de Graaf, Stan F.J., PhD</creatorcontrib><creatorcontrib>Houwen, Roderick H.J., MD, PhD</creatorcontrib><title>Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy</title><title>Baillière's best practice & research. Clinical gastroenterology</title><addtitle>Best Pract Res Clin Gastroenterol</addtitle><description>Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1 , ABCB11 and ABCB4 , respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile. Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease. This suggests a clinical continuum and these diseases are therefore preferably referred to as ATP8B1 deficiency and ABCB11 deficiency. Similarly PFIC type 3 is designated as ABCB4 deficiency. Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis of pregnancy. This review summarizes the pathophysiology, clinical features and current as well as future therapeutic options for progressive familial- and benign recurrent intrahepatic cholestasis as well as intrahepatic cholestasis of pregnancy.</description><subject>ABCB11</subject><subject>ABCB4</subject><subject>Adenosine Triphosphatases - genetics</subject><subject>ATP Binding Cassette Subfamily B Member 11</subject><subject>ATP Binding Cassette Transporter, Sub-Family B - genetics</subject><subject>ATP-Binding Cassette Transporters - genetics</subject><subject>ATP8B1</subject><subject>Benign recurrent intrahepatic cholestasis</subject><subject>Bile Acids and Salts - analysis</subject><subject>BRIC</subject><subject>Cholestasis, Intrahepatic - classification</subject><subject>Cholestasis, Intrahepatic - diagnosis</subject><subject>Cholestasis, Intrahepatic - etiology</subject><subject>Cholestasis, Intrahepatic - genetics</subject><subject>Cholestasis, Intrahepatic - physiopathology</subject><subject>Cholestasis, Intrahepatic - therapy</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Gastroenterology and Hepatology</subject><subject>Humans</subject><subject>ICP</subject><subject>Intrahepatic cholestasis of pregnancy</subject><subject>Mutation</subject><subject>PFIC</subject><subject>Pregnancy</subject><subject>Pregnancy Complications - etiology</subject><subject>Pregnancy Complications - genetics</subject><subject>Pregnancy Complications - therapy</subject><subject>Progressive familial intrahepatic cholestasis</subject><subject>Recurrence</subject><subject>Ursodeoxycholic Acid - therapeutic use</subject><issn>1521-6918</issn><issn>1532-1916</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9klFrFDEQx4MotlY_gC-y4IMv7jlJLrsbBUGKrUJBQX0OyezsNededk12C_dN_LhmubZKoT5NQn7_mcn8h7HnHFYcePVmu3LjZiUg36Fe5fCAHXMlRck1rx4uZ8HLSvPmiD1JaQuQRVo_ZkcCtFJaNcfs95nd-d7bvsDLoac02eTT2-JrHDaRUvJXVHQ3hA9TtJc02snjv_jrwlHwm1BEwjlGCtO9aGFDe__j0BVjpE2wAfdP2aPO9omeXccT9uPs4_fTT-XFl_PPpx8uSlTAp7J1sq1c49YoUPE1bztNGhwX1ChdcUQHayS0FTUaZeVqDdi1KFQNLdcg5Ql7dcg7xuHXnDsxO5-Q-t4GGuZkaqWlkFyoTL68Q26HOYbcnOEgRZ3LA2SKHyiMQ0qROjNGv7NxnyGzuGa2JrtmFtcM1CaHrHlxnXl2O2pvFTc2ZeDdAaA8iStP0ST0FJBan2c-mXbw_03__o4aex882v4n7Sn9_YVJwoD5tqzNsjU8Lww0Wsg_D2HA7A</recordid><startdate>20101001</startdate><enddate>20101001</enddate><creator>van der Woerd, Wendy L., MD</creator><creator>van Mil, Saskia W.C., PhD</creator><creator>Stapelbroek, Janneke M., MD, PhD</creator><creator>Klomp, Leo W.J., PhD</creator><creator>van de Graaf, Stan F.J., PhD</creator><creator>Houwen, Roderick H.J., MD, PhD</creator><general>Elsevier Ltd</general><general>Elsevier Limited</general><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>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>20101001</creationdate><title>Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy</title><author>van der Woerd, Wendy L., MD ; van Mil, Saskia W.C., PhD ; Stapelbroek, Janneke M., MD, PhD ; Klomp, Leo W.J., PhD ; van de Graaf, Stan F.J., PhD ; Houwen, Roderick H.J., MD, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c501t-db3d6b8b4c2c5141df9e90b12e85961ccb04ceca6e89c36b790cfdc2570d19033</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>ABCB11</topic><topic>ABCB4</topic><topic>Adenosine Triphosphatases - genetics</topic><topic>ATP Binding Cassette Subfamily B Member 11</topic><topic>ATP Binding Cassette Transporter, Sub-Family B - genetics</topic><topic>ATP-Binding Cassette Transporters - genetics</topic><topic>ATP8B1</topic><topic>Benign recurrent intrahepatic cholestasis</topic><topic>Bile Acids and Salts - analysis</topic><topic>BRIC</topic><topic>Cholestasis, Intrahepatic - classification</topic><topic>Cholestasis, Intrahepatic - diagnosis</topic><topic>Cholestasis, Intrahepatic - etiology</topic><topic>Cholestasis, Intrahepatic - genetics</topic><topic>Cholestasis, Intrahepatic - physiopathology</topic><topic>Cholestasis, Intrahepatic - therapy</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Gastroenterology and Hepatology</topic><topic>Humans</topic><topic>ICP</topic><topic>Intrahepatic cholestasis of pregnancy</topic><topic>Mutation</topic><topic>PFIC</topic><topic>Pregnancy</topic><topic>Pregnancy Complications - etiology</topic><topic>Pregnancy Complications - genetics</topic><topic>Pregnancy Complications - therapy</topic><topic>Progressive familial intrahepatic cholestasis</topic><topic>Recurrence</topic><topic>Ursodeoxycholic Acid - therapeutic use</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>van der Woerd, Wendy L., MD</creatorcontrib><creatorcontrib>van Mil, Saskia W.C., PhD</creatorcontrib><creatorcontrib>Stapelbroek, Janneke M., MD, PhD</creatorcontrib><creatorcontrib>Klomp, Leo W.J., PhD</creatorcontrib><creatorcontrib>van de Graaf, Stan F.J., PhD</creatorcontrib><creatorcontrib>Houwen, Roderick H.J., MD, PhD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Baillière's best practice & research. Clinical gastroenterology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>van der Woerd, Wendy L., MD</au><au>van Mil, Saskia W.C., PhD</au><au>Stapelbroek, Janneke M., MD, PhD</au><au>Klomp, Leo W.J., PhD</au><au>van de Graaf, Stan F.J., PhD</au><au>Houwen, Roderick H.J., MD, PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy</atitle><jtitle>Baillière's best practice & research. Clinical gastroenterology</jtitle><addtitle>Best Pract Res Clin Gastroenterol</addtitle><date>2010-10-01</date><risdate>2010</risdate><volume>24</volume><issue>5</issue><spage>541</spage><epage>553</epage><pages>541-553</pages><issn>1521-6918</issn><eissn>1532-1916</eissn><coden>BPRCB6</coden><abstract>Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1 , ABCB11 and ABCB4 , respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile. Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease. This suggests a clinical continuum and these diseases are therefore preferably referred to as ATP8B1 deficiency and ABCB11 deficiency. Similarly PFIC type 3 is designated as ABCB4 deficiency. Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis of pregnancy. This review summarizes the pathophysiology, clinical features and current as well as future therapeutic options for progressive familial- and benign recurrent intrahepatic cholestasis as well as intrahepatic cholestasis of pregnancy.</abstract><cop>Netherlands</cop><pub>Elsevier Ltd</pub><pmid>20955958</pmid><doi>10.1016/j.bpg.2010.07.010</doi><tpages>13</tpages></addata></record> |
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| ispartof | Baillière's best practice & research. Clinical gastroenterology, 2010-10, Vol.24 (5), p.541-553 |
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| subjects | ABCB11 ABCB4 Adenosine Triphosphatases - genetics ATP Binding Cassette Subfamily B Member 11 ATP Binding Cassette Transporter, Sub-Family B - genetics ATP-Binding Cassette Transporters - genetics ATP8B1 Benign recurrent intrahepatic cholestasis Bile Acids and Salts - analysis BRIC Cholestasis, Intrahepatic - classification Cholestasis, Intrahepatic - diagnosis Cholestasis, Intrahepatic - etiology Cholestasis, Intrahepatic - genetics Cholestasis, Intrahepatic - physiopathology Cholestasis, Intrahepatic - therapy Disease Progression Female Gastroenterology and Hepatology Humans ICP Intrahepatic cholestasis of pregnancy Mutation PFIC Pregnancy Pregnancy Complications - etiology Pregnancy Complications - genetics Pregnancy Complications - therapy Progressive familial intrahepatic cholestasis Recurrence Ursodeoxycholic Acid - therapeutic use |
| title | Familial cholestasis: Progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy |
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