Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series

被引：0

作者：

Bertrand Roquelaure ^{[1
]}

Marco Sciveres ^{[2
]}

Tassos Grammatikopoulos ^{[3
]}

Eberhard Lurz ^{[4
]}

Folke Freudenberg ^{[5
]}

Dalila Habes ^{[6
]}

Lionel Thevathasan ^{[7
]}

Fatine Elaraki ^{[8
]}

Emmanuel Gonzales ^{[9
]}

机构：

[1] APHM,Service de Pédiatrie Multidisciplinaire

[2] Hôpital de la Timone Enfants,Pediatric Hepatology and Pediatric Liver Transplantation

[3] ISMETT,Liver Unit and Liver Transplant Program

[4] University of Pittsburgh Medical Center Italy,Institute of Liver Studies

[5] Bambino Gesù Children Hospital,Paediatric Liver, GI and Nutrition Centre and Mowat Labs

[6] King’s College London,Division of Paediatric Gastroenterology and Hepatology, Dr. von Hauner Children’s Hospital

[7] King’s College Hospital NHS Trust,Hépatologie et Transplantation Hépatique Pédiatriques, Centre de Référence de l’Atrésie des Voies Biliaires et des Cholestases Génétiques, AP

[8] University Hospital Munich,HP

[9] LMU,undefined

[10] Klinikum Dritter Orden,undefined

[11] Division of Pediatric Gastroenterology and Hepatology,undefined

[12] FSMR FILFOIE,undefined

[13] ERN RARE LIVER,undefined

[14] Hôpital Bicêtre,undefined

[15] Université Paris-Saclay,undefined

[16] Inserm U 1193,undefined

[17] LT Associates Ltd,undefined

[18] Ipsen,undefined

来源：

Orphanet Journal of Rare Diseases | / 20卷 / 1期

关键词：

Progressive Familial intrahepatic cholestasis; Myosin 5B; Pruritus; Bilirubin; Odevixibat; Serum bile acid; Ileal bile acid transporter inhibitor;

D O I：

10.1186/s13023-025-03728-x

中图分类号：

学科分类号：

摘要：

引用

共 31 条

[21] Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: A case report
Usui, Masanobu
Isaji, Shuji
Das, Bidhan C.
Kobayashi, Motoyuki
Osawa, Ichiro
Iida, Taku
Sakurai, Hiroyuki
Tabata, Masami
Yorifuji, Toru
Egawa, Hiroto
Uemoto, Shinji
PEDIATRIC TRANSPLANTATION, 2009, 13 (05) : 611 - 614
[22] Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1
Hasegawa, Yasuhiro
Hayashi, Hisamitsu
Naoi, Sotaro
Kondou, Hiroki
Bessho, Kazuhiko
Igarashi, Koji
Hanada, Kentaro
Nakao, Kie
Kimura, Takeshi
Konishi, Akiko
Nagasaka, Hironori
Miyoshi, Yoko
Ozono, Keiichi
Kusuhara, Hiroyuki
ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
[23] Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1
Yasuhiro Hasegawa
Hisamitsu Hayashi
Sotaro Naoi
Hiroki Kondou
Kazuhiko Bessho
Koji Igarashi
Kentaro Hanada
Kie Nakao
Takeshi Kimura
Akiko Konishi
Hironori Nagasaka
Yoko Miyoshi
Keiichi Ozono
Hiroyuki Kusuhara
Orphanet Journal of Rare Diseases, 9
[24] Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation
Goubran, Mariam
Aderibigbe, Ayodeji
Jacquemin, Emmanuel
Guettier, Catherine
Girgis, Safwat
Bain, Vincent
Mason, Andrew L.
BMC MEDICAL GENETICS, 2020, 21 (01)
[25] New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report
Wei, Chun-Shan
Becher, Naja
Friis, Jenny Blechingberg
Ott, Peter
Vogel, Ida
Gronbaek, Henning
WORLD JOURNAL OF GASTROENTEROLOGY, 2020, 26 (05) : 550 - 561
[26] New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report
Chun-Shan Wei
Naja Becher
Jenny Blechingberg Friis
Peter Ott
Ida Vogel
Henning Gr?nb?k
World Journal of Gastroenterology, 2020, 26 (05) : 550 - 561
[27] Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice
Aronson, Sem J.
Bakker, Robert S.
Shi, Xiaoxia
Duijst, Suzanne
ten Bloemendaal, Lysbeth
de Waart, Dirk R.
Verheij, Joanne
Ronzitti, Giuseppe
Elferink, Ronald P. Oude
Beuers, Ulrich
Paulusma, Coen C.
Bosma, Piter J.
JOURNAL OF HEPATOLOGY, 2019, 71 (01) : 153 - 162
[28] Cholecysto-appendicostomy as partial internal biliary drainage in Progressive Familial Intrahepatic Cholestasis Type 1: A case report and review of literature
Yik, Yee Ian
Othman, Mohd Yusran
Ng, Ruey Terng
Lee, Way Seah
JOURNAL OF PEDIATRIC SURGERY CASE REPORTS, 2016, 4 : 17 - 21
[29] Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report
Czubkowski, Piotr
Thompson, Richard J.
Jankowska, Irena
Knisely, A. S.
Finegold, Milton
Parsons, Pamela
Cielecka-Kuszyk, Joanna
Strautnieks, Sandra
Pawlowska, Joanna
Bull, Laura N.
WORLD JOURNAL OF CLINICAL CASES, 2021, 9 (15) : 3631 - 3636
[30] Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up
Lipinski, Patryk
Ciara, Elzbieta
Jurkiewicz, Dorota
Ploski, Rafal
Wawrzynowicz-Syczewska, Marta
Pawlowska, Joanna
Jankowska, Irena
ANNALS OF HEPATOLOGY, 2021, 25

← 1 2 3 4 →