Article
Medicine, Research & Experimental
Qiong Pan, Gang Luo, Jiaquan Qu, Sheng Chen, Xiaoxun Zhang, Nan Zhao, Jingjing Ding, Hong Yang, Mingqiao Li, Ling Li, Ying Cheng, Xuan Li, Qiaoling Xie, Qiao Li, Xueqian Zhou, Huiling Zou, Shijun Fan, Lingyun Zou, Wei Liu, Guohong Deng, Shi-Ying Cai, James L. Boyer, Jin Chai
Summary: The homozygous mutation of SEMA7A(R145W) leads to intrahepatic cholestasis in both mice and children, with further studies showing that this mutation affects the expression of hepatic bile acid transporters and export pumps.
EMBO MOLECULAR MEDICINE
(2021)
Article
Medicine, General & Internal
Piotr Czubkowski, Richard J. Thompson, Irena Jankowska, A. S. Knisely, Milton Finegold, Pamela Parsons, Joanna Cielecka-Kuszyk, Sandra Strautnieks, Joanna Pawlowska, Laura N. Bull
Summary: The study presents a case of a boy with severe intrahepatic cholestasis and a homozygous mutation in NR1H4. Although the boy showed good liver function after liver transplantation, he eventually died from an acute infection one year post-transplantation. The study suggests that patients with FXR deficiency may respond well to liver transplantation without developing allograft steatosis.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Review
Gastroenterology & Hepatology
Katherine Cheng, Philip Rosenthal
Summary: Alagille syndrome and progressive familial intrahepatic cholestasis are two conditions that affect multiple organs, and molecular testing has improved their diagnosis. Impairment of normal bile flow and secretion leads to various hepatic manifestations. Medical management focuses on supportive care, addressing quality of life, cholestasis, and fat-soluble vitamin deficiency. Pruritus is a challenging symptom and can be treated with medications or bile acid transport inhibitors.
HEPATOLOGY COMMUNICATIONS
(2023)
Article
Gastroenterology & Hepatology
Richard J. Thompson, Henrik Arnell, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D'Antiga, Ozlem Durmaz, Bjorn Fischler, Emmanuel Gonzales, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H. J. Houwen, Binita M. Kamath, Saul J. Karpen, Lise Kjems, Florence Lacaille, Alain Lachaux, Elke Lainka, Cara L. Mack, Jan P. Mattsson, Patrick McKiernan, Hasan Ozen, Sanjay R. Rajwal, Bertrand Roquelaure, Mohammad Shagrani, Eyal Shteyer, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Henkjan J. Verkade, Patrick Horn
Summary: The study evaluated the effects of odevixibat, an ileal bile acid transporter inhibitor, versus placebo in children with PFIC. The results showed that odevixibat effectively reduced pruritus and serum bile acids compared to placebo, and it was generally well-tolerated.
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2022)
Review
Pediatrics
Maria Noelle Huepper, Judith Pichler, Wolf-Dietrich Huber, Andreas Heilos, Rebecca Schaup, Martin Metzelder, Sophie Langer
Summary: This study surveyed and reviewed the etiology and treatments for progressive familial intrahepatic cholestasis (PFIC), finding that surgical biliary diversion and ileal bile salt inhibitors can delay or prevent liver transplantation, and a combination of the two may be possible. Further research is warranted.
Article
Medicine, General & Internal
Jinlin Cheng, Ling Gong, Xiaoxiao Mi, Xiangyan Wu, Jun Zheng, Wenjun Yang
Summary: This study aims to improve the accuracy of the diagnosis of familial progressive intrahepatic cholestasis type 3 (PFIC3). Through the analysis of clinical records, laboratory tests, liver morphology, and molecular genetics in four PFIC3 patients, it was found that MDR3 immunohistochemistry and molecular genetic analyses of ABCB4 are essential for the accurate diagnosis of PFIC3.
FRONTIERS IN MEDICINE
(2022)
Article
Cell Biology
Shang-Hsin Wu, Mei-Hwei Chang, Ya-Hui Chen, Hui-Lin Wu, Huey-Huey Chua, Chin-Sung Chien, Yen-Hsuan Ni, Hui-Ling Chen, Huey-Ling Chen
Summary: This study identified charged multivesicular body protein 5 (CHMP5) as a molecule that interacts with BSEP, affecting its canalicular targeting and retention, resulting in impaired post-Golgi trafficking and bile acid secretion. These findings suggest that ESCRT-III-mediated BSEP sorting is essential for the trafficking of apical membrane proteins, providing new targets for therapeutic interventions in BSEP-associated cholestasis.
JOURNAL OF BIOMEDICAL SCIENCE
(2021)
Review
Gastroenterology & Hepatology
Rishi Bolia, Akhil Dhanesh Goel, Vishakha Sharma, Anshu Srivastava
Summary: Biliary diversion is effective in relieving pruritus in PFIC, with PIBD having lower complications and LT requirements compared to PEBD.
EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY
(2022)
Review
Genetics & Heredity
Tracey Jones-Hughes, Jo Campbell, Louise Crathorne
Summary: Progressive familial intrahepatic cholestasis (PFIC) is a rare liver disorder with early onset of cholestasis, pruritus, and malabsorption, leading to liver failure. The disease causes significant distress for children and parents, with severe pruritus affecting daily life. Data on PFIC epidemiology and outcomes are limited, highlighting the need for more research in this area.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Plant Sciences
Shasha Qin, Jingzhuo Tian, Yong Zhao, Lianmei Wang, Jinyu Wang, Suyan Liu, Jing Meng, Fang Wang, Chenyue Liu, Jiayin Han, Chen Pan, Yushi Zhang, Yan Yi, Chunying Li, Meiting Liu, Aihua Liang
Summary: This study aims to systematically elucidate the mechanism by which Gardenia extract ameliorates ANIT-induced cholestatic liver injury.
JOURNAL OF ETHNOPHARMACOLOGY
(2024)
Article
Immunology
Silas Gustavo Barboza Romeres, Natalia de Carvalho Trevizoli, Carolina Augusta Matos de Oliveira, Evelyn Jacome Obeid, Gustavo de Sousa Arantes Ferreira, Priscila Brizolla Campos, Raquel Francine Bundchen Ullmann, Henrique Carvalho Rocha, Ana Virginia Ferreira Figueira, Luiz Gustavo Guedes Diaz, Fernando Marcus Felippe Jorge, Gabriel Oliveira Nunes Caja, Andre Luis Conde Watanabe, Evandro Sobroza de Mello, Elisa de Carvalho
Summary: This article reports a case of recurrent BSEP disease in a PFIC2 patient after liver transplantation, with clinical and laboratory improvement after methylprednisolone pulse therapy and adjustment of oral immunosuppression. The article emphasizes the importance of clinical suspicion for post-transplant cholestasis in PFIC2 patients.
TRANSPLANTATION PROCEEDINGS
(2022)
Article
Gastroenterology & Hepatology
Qiong Pan, Guanyu Zhu, Ziqian Xu, Jinfei Zhu, Jiafeng Ouyang, Yao Tong, Nan Zhao, Xiaoxun Zhang, Ying Cheng, Liangjun Zhang, Ya Tan, Jianwei Li, Chengcheng Zhang, Wensheng Chen, Shi-Ying Cai, James L. Boyer, Jin Chai
Summary: OATP1B3 is a significant transporter for hepatic bile acid uptake and can partially compensate for the uptake of conjugated bile acids by the NatHorn/taurocholate cotransporter. Downregulation of hepatic OATP1B3 is an adaptive protective response against cholestasis.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Microbiology
Fanxin Jin, Youwei Feng, Chao Chen, Hao Yao, Renling Zhang, Qin Zhang, Fanzeng Meng, Xiang Chen, Xin'an Jiao, Yuelan Yin
Summary: This study demonstrates that the LMxysn_1693 gene plays a crucial role in adhesion, invasion, colonization, bile resistance, biofilm formation, and virulence of Listeria monocytogenes.
Review
Medicine, General & Internal
Maciej Majsterek, Magdalena Wierzchowska-Opoka, Inga Makosz, Lena Kreczynska, Zaneta Kimber-Trojnar, Bozena Leszczynska-Gorzelak
Summary: Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-related condition characterized by elevated levels of bile acids (BAs) in blood serum and an increased risk of adverse perinatal outcomes. Early diagnosis and prompt management based on BA levels are crucial in reducing fetal complications.
Article
Gastroenterology & Hepatology
Patryk Lipinski, Elzbieta Ciara, Dorota Jurkiewicz, Rafal Ploski, Marta Wawrzynowicz-Syczewska, Joanna Pawlowska, Irena Jankowska
Summary: This study presented the phenotypic and genotypic spectrum of 4 Polish PFIC-3 patients, highlighting the importance of NGS in diagnosis and follow-up management. The variability in clinical phenotype was observed, emphasizing the challenges in clinical and biochemical diagnosis of PFIC-3.
ANNALS OF HEPATOLOGY
(2021)