Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report

Masahata, K.; Uehara, S.; Ibuka, S.; Nakahata, K.; Hasegawa, Y.; Kondou, H.; Kubitz, R.; Ueno, T.

doi:https://doi.org/10.1016/j.transproceed.2016.02.067

Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report

Masahata, K.; Uehara, S.; Ibuka, S. et al.

Transplantation Proceedings, 2016, 48(9), 3156-3162

Number of Access:750（2025-07-22 22:16 Counts）

Identifier to cite or link to this item: https://hdl.handle.net/11094/100009

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Title	Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report
Creator	NRID 1000040588381 1000040588381 CreatorName Masahata, K.
	NRID 1000000448060 1000000448060 CreatorName Uehara, S.
	CreatorName Ibuka, S.
	NRID 1000050643532 1000050643532 researchmap permalink nakahatakengo nakahatakengo CreatorName Nakahata, K.
	NRID 1000010730369 1000010730369 CreatorName Hasegawa, Y.
	NRID 1000010373515 1000010373515 CreatorName Kondou, H.
	CreatorName Kubitz, R.
	NRID 1000010456957 1000010456957 ORCID 0000-0002-4639-8814 0000-0002-4639-8814 researchmap permalink ueno-pedsurg ueno-pedsurg Scopus Author ID 21743992300 21743992300 CreatorName Ueno, T.
Description	Masahata K., Uehara S., Ibuka S., et al. Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. Transplantation Proceedings 48, 3156 (2016); https://doi.org/10.1016/j.transproceed.2016.02.067.
Abstract	Background: Progressive familial intrahepatic cholestasis 2 (PFIC2) is the result of mutations in the ABCB11, which encodes for bile salt export pump (BSEP). An absence of BSEP in the canalicular membrane causes cholestasis and leads to the development of end-stage liver disease in the first decade of life. Liver transplantation (LT) has been considered curative for BSEP disease. However, patients with PFIC2 having undergone LT have recently been reported to develop recurrence of cholestasis together with the clinical and histological features of primary BSEP disease. Case Report: We herein present a rare case of a patient with PFIC2 who developed post-transplantation recurrence of progressive intrahepatic cholestasis due to antibodies against BSEP after living-donor LT, which mimicked primary BSEP disease. The patient had mutations in the ABCB11 gene, resulting in the complete absence of BSEP in the native liver, explaining the lack of tolerance. Immunofluorescence staining of normal human liver sections with the patient's serum and using an anti-human immunoglobulin G antibody to detect serum antibodies showed reactivity to the BSEP epitope in the canalicular membrane. We suggest that the patients having undergone LT had been associated with a risk of autoantibody formation against the BSEP protein. The absence of primary tolerance for the BSEP epitopes may explain the formation of the anti-BSEP antibodies after LDLT.
Publisher	Elsevier USA
Source Title	Transplantation Proceedings
Volume (Issue)	48(9)
Page	3156-3162
Date of Issued	2016-11-01
Language	English
Handle URL	https://hdl.handle.net/11094/100009
PISSN	00411345
eISSN	18732623
Relation.isVersionOf	DOI (Publisher Version) https://doi.org/10.1016/j.transproceed.2016.02.067
Access Rights	open access
CopyRight	© 2016. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/
oaire:version	Accepted Manuscript
Category	学術雑誌論文 Journal Article

Resource Type	journal article
Local Type	Journal Article
DCTERMS.bibliographicCitation	Transplantation Proceedings. 2016, 48(9), p. 3156-3162
DC.title	Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report
DC.creator	Masahata, K.
	Uehara, S.
	Ibuka, S.
	Nakahata, K.
	Hasegawa, Y.
	Kondou, H.
	Kubitz, R.
	Ueno, T.
DC.publisher	Elsevier USA
DC.language' scheme='DCTERMS.RFC1766	English
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2016-11-01
DC.identifier	https://doi.org/10.1016/j.transproceed.2016.02.067
DC.description	Masahata K., Uehara S., Ibuka S., et al. Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. Transplantation Proceedings 48, 3156 (2016); https://doi.org/10.1016/j.transproceed.2016.02.067.
DCTERMS.abstract	Background: Progressive familial intrahepatic cholestasis 2 (PFIC2) is the result of mutations in the ABCB11, which encodes for bile salt export pump (BSEP). An absence of BSEP in the canalicular membrane causes cholestasis and leads to the development of end-stage liver disease in the first decade of life. Liver transplantation (LT) has been considered curative for BSEP disease. However, patients with PFIC2 having undergone LT have recently been reported to develop recurrence of cholestasis together with the clinical and histological features of primary BSEP disease. Case Report: We herein present a rare case of a patient with PFIC2 who developed post-transplantation recurrence of progressive intrahepatic cholestasis due to antibodies against BSEP after living-donor LT, which mimicked primary BSEP disease. The patient had mutations in the ABCB11 gene, resulting in the complete absence of BSEP in the native liver, explaining the lack of tolerance. Immunofluorescence staining of normal human liver sections with the patient's serum and using an anti-human immunoglobulin G antibody to detect serum antibodies showed reactivity to the BSEP epitope in the canalicular membrane. We suggest that the patients having undergone LT had been associated with a risk of autoantibody formation against the BSEP protein. The absence of primary tolerance for the BSEP epitopes may explain the formation of the anti-BSEP antibodies after LDLT.
DC.rights	© 2016. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/
DC.format	100009
citation_title	Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report
citation_author	Masahata, K.
	Uehara, S.
	Ibuka, S.
	Nakahata, K.
	Hasegawa, Y.
	Kondou, H.
	Kubitz, R.
	Ueno, T.
citation_publisher	Elsevier USA
citation_language	English
citation_date	2016-11-01
citation_journal_title	Transplantation Proceedings
citation_volume	48
citation_issue	9
citation_firstpage	3156
citation_lastpage	3162
citation_doi	https://doi.org/10.1016/j.transproceed.2016.02.067
citation_public_url	https://hdl.handle.net/11094/100009

Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report

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