Loading…
Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report
Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play a central role in the pathogen...
Saved in:
| Published in: | BMC pediatrics 2020-07, Vol.20 (1), p.340-340, Article 340 |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c594t-d7e63e5a1dd78f27f0d6f77337e240926d5807ad9957c1f1c8b6b9853699e2f53 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c594t-d7e63e5a1dd78f27f0d6f77337e240926d5807ad9957c1f1c8b6b9853699e2f53 |
| container_end_page | 340 |
| container_issue | 1 |
| container_start_page | 340 |
| container_title | BMC pediatrics |
| container_volume | 20 |
| creator | Baghdasaryan, Anna Ofner-Ziegenfuß, Lisa Lackner, Carolin Fickert, Peter Resch, Bernhard Morris, Nicholas Mark Deutschmann, Andrea |
| description | Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play a central role in the pathogenesis of cholestasis. Despite variants of bile salt (BS) export pump (BSEP/ABCB11) have already been described in TNC, the pathogenic role of BSEP dysfunction in TNC remained so far elusive.
We report on a newly-identified heterozygous ABCB11 missense variant (c.1345G > A, p.Glu449Lys) which was associated with prolonged cholestasis in a term infant after a complicated neonatal period. Moreover, we show for the first time almost completely abolished BSEP expression on the hepatocellular membrane in TNC.
This report demonstrates for the first time a close association between the prolonged cholestasis in infancy and impaired BSEP expression on the hepatocyte canalicular membrane in a heterozygous carrier of newly-identified ABCB11 variant. |
| doi_str_mv | 10.1186/s12887-020-02201-x |
| format | article |
| fullrecord | <record><control><sourceid>gale_doaj_</sourceid><recordid>TN_cdi_doaj_primary_oai_doaj_org_article_a8e8bb2c5e6c42f896ae5409b769d2c9</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A631891216</galeid><doaj_id>oai_doaj_org_article_a8e8bb2c5e6c42f896ae5409b769d2c9</doaj_id><sourcerecordid>A631891216</sourcerecordid><originalsourceid>FETCH-LOGICAL-c594t-d7e63e5a1dd78f27f0d6f77337e240926d5807ad9957c1f1c8b6b9853699e2f53</originalsourceid><addsrcrecordid>eNptkluLEzEAhQdR3Iv-AR9kQJB9md3cLz4stGV1FxYU1OeQySSdlGlSkxlZ_71pu66tSBgyJN85ISenqt5AcAmhYFcZIiF4AxAoHwKweXhWnULCYYMIhs8P_k-qs5xXAEAuCHtZnWDECCMQnlb21ucxDnHpjR7qzq5jyGPSo4-hjq6ef735cjWbL-YQ1j70vvW7HR_qAoXsbRjrYGPQY1GbPg42jzr7_KHWtdHZ1sluYhpfVS-cHrJ9_TifV98_3nxb3Db3nz_dLWb3jaGSjE3HLcOWath1XDjEHeiY4xxjbhEBErGOCsB1JyXlBjpoRMtaKShmUlrkKD6v7va-XdQrtUl-rdMvFbVXu4WYlkqn0ZvBKi2saFtkqGWGICck05aWQ1rOZIeMLF7Xe6_N1K5tZ8pVkx6OTI93gu_VMv5UHJdsMS4GF48GKf6YSjBq7bOxw6BLYlNWiCAMqGSCFPTdP-gqTimUqLYU4RQjSP9SS10u4IOL5VyzNVUzhqGQEEFWqMv_UGWUx_UmBut8WT8SvD8Q9FYPY5_jMG1fOh-DaA-aFHNO1j2FAYHaNlLtG6lKI9WukeqhiN4exvgk-VNB_BuP9dnO</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2424753215</pqid></control><display><type>article</type><title>Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report</title><source>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</source><source>PubMed Central (PMC)</source><creator>Baghdasaryan, Anna ; Ofner-Ziegenfuß, Lisa ; Lackner, Carolin ; Fickert, Peter ; Resch, Bernhard ; Morris, Nicholas Mark ; Deutschmann, Andrea</creator><creatorcontrib>Baghdasaryan, Anna ; Ofner-Ziegenfuß, Lisa ; Lackner, Carolin ; Fickert, Peter ; Resch, Bernhard ; Morris, Nicholas Mark ; Deutschmann, Andrea</creatorcontrib><description>Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play a central role in the pathogenesis of cholestasis. Despite variants of bile salt (BS) export pump (BSEP/ABCB11) have already been described in TNC, the pathogenic role of BSEP dysfunction in TNC remained so far elusive.
We report on a newly-identified heterozygous ABCB11 missense variant (c.1345G > A, p.Glu449Lys) which was associated with prolonged cholestasis in a term infant after a complicated neonatal period. Moreover, we show for the first time almost completely abolished BSEP expression on the hepatocellular membrane in TNC.
This report demonstrates for the first time a close association between the prolonged cholestasis in infancy and impaired BSEP expression on the hepatocyte canalicular membrane in a heterozygous carrier of newly-identified ABCB11 variant.</description><identifier>ISSN: 1471-2431</identifier><identifier>EISSN: 1471-2431</identifier><identifier>DOI: 10.1186/s12887-020-02201-x</identifier><identifier>PMID: 32646411</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Age ; Asphyxia neonatorum ; ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics ; Bile ; Biopsy ; BSEP deficiency ; Case Report ; Case reports ; Cholestasis ; Cholestasis - genetics ; Diagnosis ; Enzymes ; Gallbladder diseases ; Hepatocytes ; Humans ; Infant ; Infant, Newborn ; Laboratories ; Liver ; Liver Diseases ; Mutation ; Mutation, Missense ; Neonatal care ; Newborn babies ; Newborn infants ; Nutrition ; Parenteral nutrition ; Pathogenesis ; Sepsis ; Transient neonatal cholestasis ; Ventilators</subject><ispartof>BMC pediatrics, 2020-07, Vol.20 (1), p.340-340, Article 340</ispartof><rights>COPYRIGHT 2020 BioMed Central Ltd.</rights><rights>2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c594t-d7e63e5a1dd78f27f0d6f77337e240926d5807ad9957c1f1c8b6b9853699e2f53</citedby><cites>FETCH-LOGICAL-c594t-d7e63e5a1dd78f27f0d6f77337e240926d5807ad9957c1f1c8b6b9853699e2f53</cites><orcidid>0000-0003-1026-706X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346433/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2424753215?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,25731,27901,27902,36989,36990,44566,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32646411$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Baghdasaryan, Anna</creatorcontrib><creatorcontrib>Ofner-Ziegenfuß, Lisa</creatorcontrib><creatorcontrib>Lackner, Carolin</creatorcontrib><creatorcontrib>Fickert, Peter</creatorcontrib><creatorcontrib>Resch, Bernhard</creatorcontrib><creatorcontrib>Morris, Nicholas Mark</creatorcontrib><creatorcontrib>Deutschmann, Andrea</creatorcontrib><title>Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report</title><title>BMC pediatrics</title><addtitle>BMC Pediatr</addtitle><description>Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play a central role in the pathogenesis of cholestasis. Despite variants of bile salt (BS) export pump (BSEP/ABCB11) have already been described in TNC, the pathogenic role of BSEP dysfunction in TNC remained so far elusive.
We report on a newly-identified heterozygous ABCB11 missense variant (c.1345G > A, p.Glu449Lys) which was associated with prolonged cholestasis in a term infant after a complicated neonatal period. Moreover, we show for the first time almost completely abolished BSEP expression on the hepatocellular membrane in TNC.
This report demonstrates for the first time a close association between the prolonged cholestasis in infancy and impaired BSEP expression on the hepatocyte canalicular membrane in a heterozygous carrier of newly-identified ABCB11 variant.</description><subject>Age</subject><subject>Asphyxia neonatorum</subject><subject>ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics</subject><subject>Bile</subject><subject>Biopsy</subject><subject>BSEP deficiency</subject><subject>Case Report</subject><subject>Case reports</subject><subject>Cholestasis</subject><subject>Cholestasis - genetics</subject><subject>Diagnosis</subject><subject>Enzymes</subject><subject>Gallbladder diseases</subject><subject>Hepatocytes</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Laboratories</subject><subject>Liver</subject><subject>Liver Diseases</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Neonatal care</subject><subject>Newborn babies</subject><subject>Newborn infants</subject><subject>Nutrition</subject><subject>Parenteral nutrition</subject><subject>Pathogenesis</subject><subject>Sepsis</subject><subject>Transient neonatal cholestasis</subject><subject>Ventilators</subject><issn>1471-2431</issn><issn>1471-2431</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkluLEzEAhQdR3Iv-AR9kQJB9md3cLz4stGV1FxYU1OeQySSdlGlSkxlZ_71pu66tSBgyJN85ISenqt5AcAmhYFcZIiF4AxAoHwKweXhWnULCYYMIhs8P_k-qs5xXAEAuCHtZnWDECCMQnlb21ucxDnHpjR7qzq5jyGPSo4-hjq6ef735cjWbL-YQ1j70vvW7HR_qAoXsbRjrYGPQY1GbPg42jzr7_KHWtdHZ1sluYhpfVS-cHrJ9_TifV98_3nxb3Db3nz_dLWb3jaGSjE3HLcOWath1XDjEHeiY4xxjbhEBErGOCsB1JyXlBjpoRMtaKShmUlrkKD6v7va-XdQrtUl-rdMvFbVXu4WYlkqn0ZvBKi2saFtkqGWGICck05aWQ1rOZIeMLF7Xe6_N1K5tZ8pVkx6OTI93gu_VMv5UHJdsMS4GF48GKf6YSjBq7bOxw6BLYlNWiCAMqGSCFPTdP-gqTimUqLYU4RQjSP9SS10u4IOL5VyzNVUzhqGQEEFWqMv_UGWUx_UmBut8WT8SvD8Q9FYPY5_jMG1fOh-DaA-aFHNO1j2FAYHaNlLtG6lKI9WukeqhiN4exvgk-VNB_BuP9dnO</recordid><startdate>20200709</startdate><enddate>20200709</enddate><creator>Baghdasaryan, Anna</creator><creator>Ofner-Ziegenfuß, Lisa</creator><creator>Lackner, Carolin</creator><creator>Fickert, Peter</creator><creator>Resch, Bernhard</creator><creator>Morris, Nicholas Mark</creator><creator>Deutschmann, Andrea</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0003-1026-706X</orcidid></search><sort><creationdate>20200709</creationdate><title>Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report</title><author>Baghdasaryan, Anna ; Ofner-Ziegenfuß, Lisa ; Lackner, Carolin ; Fickert, Peter ; Resch, Bernhard ; Morris, Nicholas Mark ; Deutschmann, Andrea</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c594t-d7e63e5a1dd78f27f0d6f77337e240926d5807ad9957c1f1c8b6b9853699e2f53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Age</topic><topic>Asphyxia neonatorum</topic><topic>ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics</topic><topic>Bile</topic><topic>Biopsy</topic><topic>BSEP deficiency</topic><topic>Case Report</topic><topic>Case reports</topic><topic>Cholestasis</topic><topic>Cholestasis - genetics</topic><topic>Diagnosis</topic><topic>Enzymes</topic><topic>Gallbladder diseases</topic><topic>Hepatocytes</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Laboratories</topic><topic>Liver</topic><topic>Liver Diseases</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Neonatal care</topic><topic>Newborn babies</topic><topic>Newborn infants</topic><topic>Nutrition</topic><topic>Parenteral nutrition</topic><topic>Pathogenesis</topic><topic>Sepsis</topic><topic>Transient neonatal cholestasis</topic><topic>Ventilators</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Baghdasaryan, Anna</creatorcontrib><creatorcontrib>Ofner-Ziegenfuß, Lisa</creatorcontrib><creatorcontrib>Lackner, Carolin</creatorcontrib><creatorcontrib>Fickert, Peter</creatorcontrib><creatorcontrib>Resch, Bernhard</creatorcontrib><creatorcontrib>Morris, Nicholas Mark</creatorcontrib><creatorcontrib>Deutschmann, Andrea</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 Central (Corporate)</collection><collection>Health Medical collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Directory of Open Access Journals</collection><jtitle>BMC pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Baghdasaryan, Anna</au><au>Ofner-Ziegenfuß, Lisa</au><au>Lackner, Carolin</au><au>Fickert, Peter</au><au>Resch, Bernhard</au><au>Morris, Nicholas Mark</au><au>Deutschmann, Andrea</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report</atitle><jtitle>BMC pediatrics</jtitle><addtitle>BMC Pediatr</addtitle><date>2020-07-09</date><risdate>2020</risdate><volume>20</volume><issue>1</issue><spage>340</spage><epage>340</epage><pages>340-340</pages><artnum>340</artnum><issn>1471-2431</issn><eissn>1471-2431</eissn><abstract>Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play a central role in the pathogenesis of cholestasis. Despite variants of bile salt (BS) export pump (BSEP/ABCB11) have already been described in TNC, the pathogenic role of BSEP dysfunction in TNC remained so far elusive.
We report on a newly-identified heterozygous ABCB11 missense variant (c.1345G > A, p.Glu449Lys) which was associated with prolonged cholestasis in a term infant after a complicated neonatal period. Moreover, we show for the first time almost completely abolished BSEP expression on the hepatocellular membrane in TNC.
This report demonstrates for the first time a close association between the prolonged cholestasis in infancy and impaired BSEP expression on the hepatocyte canalicular membrane in a heterozygous carrier of newly-identified ABCB11 variant.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>32646411</pmid><doi>10.1186/s12887-020-02201-x</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-1026-706X</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1471-2431 |
| ispartof | BMC pediatrics, 2020-07, Vol.20 (1), p.340-340, Article 340 |
| issn | 1471-2431 1471-2431 |
| language | eng |
| recordid | cdi_doaj_primary_oai_doaj_org_article_a8e8bb2c5e6c42f896ae5409b769d2c9 |
| source | Publicly Available Content Database (Proquest) (PQ_SDU_P3); PubMed Central (PMC) |
| subjects | Age Asphyxia neonatorum ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics Bile Biopsy BSEP deficiency Case Report Case reports Cholestasis Cholestasis - genetics Diagnosis Enzymes Gallbladder diseases Hepatocytes Humans Infant Infant, Newborn Laboratories Liver Liver Diseases Mutation Mutation, Missense Neonatal care Newborn babies Newborn infants Nutrition Parenteral nutrition Pathogenesis Sepsis Transient neonatal cholestasis Ventilators |
| title | Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-10T13%3A53%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_doaj_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Histological%20demonstration%20of%20BSEP/ABCB11%20inhibition%20in%20transient%20neonatal%20cholestasis:%20a%20case%20report&rft.jtitle=BMC%20pediatrics&rft.au=Baghdasaryan,%20Anna&rft.date=2020-07-09&rft.volume=20&rft.issue=1&rft.spage=340&rft.epage=340&rft.pages=340-340&rft.artnum=340&rft.issn=1471-2431&rft.eissn=1471-2431&rft_id=info:doi/10.1186/s12887-020-02201-x&rft_dat=%3Cgale_doaj_%3EA631891216%3C/gale_doaj_%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c594t-d7e63e5a1dd78f27f0d6f77337e240926d5807ad9957c1f1c8b6b9853699e2f53%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2424753215&rft_id=info:pmid/32646411&rft_galeid=A631891216&rfr_iscdi=true |