scholarly journals Two novel ATP8B1 mutations involved in progressive familial intrahepatic cholestasis type 1 that is ameliorated by rifampicin: a case report

2022 ◽  
Author(s):  
Yan Huang ◽  
Er‐ping Luo ◽  
Min Li ◽  
Jing Yang ◽  
Jian‐he Gan ◽  
...  
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Progressive Familial Intrahepatic Cholestasis

scholarly journals Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report

2021 ◽  
Vol 9 (15) ◽  
pp. 3631-3636
Author(s):  
Piotr Czubkowski ◽  
Richard J Thompson ◽  
Irena Jankowska ◽  
A S Knisely ◽  
Milton Finegold ◽  
...  
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Farnesoid X Receptor ◽  
Progressive Familial Intrahepatic Cholestasis

PROGRESSIVE FAMILY INTRAHEPATIC CHOLESTASIS: DIAGNOSTICS, TREATMENT (CLINICAL OBSERVATION)

2021 ◽  
Vol 19 (4) ◽  
pp. 462-467
Author(s):  
A. R. Obuhovich ◽  
◽  
N. N. Iaskevich ◽  
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Clinical Observation ◽  
Gene Mutations ◽  
Literature Analysis ◽  
Genetic Progress ◽  
Benign Recurrent Intrahepatic Cholestasis

Jaundice is a manifestation of many diseases both benign and malignant. Genetic progress allowed to distinguish the group of unknown earlier rare cholestatic jaundices, which are resulted from gene mutations. There are no described algorithms of their diagnosis or treatment. In this article case report of the patient with benign recurrent intrahepatic cholestasis type 1 is presented. There is also literature analysis of this theme.

Sign in / Sign up

Export Citation Format

Share Document