Successful treatment with 4‐phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption

2015 ◽  
Vol 46 (2) ◽  
pp. 192-200 ◽  
Author(s):  
Hisamitsu Hayashi ◽  
Sotaro Naoi ◽  
Yu Hirose ◽  
Yusuke Matsuzaka ◽  
Ken Tanikawa ◽  
...  
Keyword(s):  
Successful Treatment ◽  
Intrahepatic Cholestasis ◽  
Biliary Drainage ◽  
Benign Recurrent Intrahepatic Cholestasis

scholarly journals Description of Two NewABCB11Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family

2011 ◽  
Vol 25 (6) ◽  
pp. 311-314 ◽  
Author(s):  
Yannick Beauséjour ◽  
Fernando Alvarez ◽  
Martin Beaulieu ◽  
Marc Bilodeau
Keyword(s):  
Intrahepatic Cholestasis ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Present Report ◽  
Genetic Diagnosis ◽  
Rare Clinical Entity ◽  
French Canadian ◽  
Genetic Characteristics ◽  
Benign Recurrent Intrahepatic Cholestasis

Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of theABCB11gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

2004 ◽  
Vol 127 (2) ◽  
pp. 379-384 ◽  
Author(s):  
Saskia W.C. van Mil ◽  
Wendy L. van der Woerd ◽  
Gerda van der Brugge ◽  
Ekkehard Sturm ◽  
Peter L.M. Jansen ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis

scholarly journals Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

2019 ◽  
Vol 22 (2) ◽  
pp. 201
Author(s):  
Min Ji Sohn ◽  
Min Hyung Woo ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Gyeong Hoon Kang ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent Intrahepatic Cholestasis

scholarly journals Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2

2020 ◽  
Vol 70 (6) ◽  
pp. e139-e140
Author(s):  
Marion Almes ◽  
Agathe Jobert ◽  
Martine Lapalus ◽  
Elodie Mareux ◽  
Emmanuel Gonzales ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Progressive Familial Intrahepatic Cholestasis
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