scholarly journals Long‐term colestyramine treatment prevents cholestatic attacks in refractory benign recurrent intrahepatic cholestasis type 1 disease

Hepatology ◽  
2020 ◽  
Author(s):  
E. Koukoulioti ◽  
A. Ziagaki ◽  
S.N. Weber ◽  
F. Lammert ◽  
T. Berg
Keyword(s):  
Intrahepatic Cholestasis ◽  
Benign Recurrent 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.

Benign recurrent intrahepatic cholestasis: A long-term follow-up study of two patients

Hepatology ◽  
1989 ◽  
Vol 9 (4) ◽  
pp. 532-537 ◽  
Author(s):  
Charles M. A. Bijleveld ◽  
Roel J. Vonk ◽  
Folkert Kuipers ◽  
Rick Havinga ◽  
John Fernandes
Keyword(s):  
Intrahepatic Cholestasis ◽  
Follow Up Study ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Long Term Follow Up

Long‐term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience

2021 ◽  
Author(s):  
Sarah A.F. Henkel ◽  
Claudia M. Salgado ◽  
Miguel Reyes‐Mugica ◽  
Kyle A. Soltys ◽  
Kevin Strauss ◽  
...  
Keyword(s):  
Liver Transplant ◽  
Intrahepatic Cholestasis ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Transplant Outcomes

ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function

2015 ◽  
Vol 33 (3) ◽  
pp. 314-318 ◽  
Author(s):  
Jyoti Naik ◽  
Dirk R. de Waart ◽  
Karina Utsunomiya ◽  
Suzanne Duijst ◽  
Kam Ho Mok ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Bile Salts ◽  
Membrane Transporters ◽  
Cholestatic Liver Disease ◽  
Canalicular Membrane ◽  
Transport Vesicles ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Conjugated Hyperbilirubinemia ◽  
Deficient Mice

P4 ATPases are lipid flippases and transport phospholipids from the exoplasmic to the cytosolic leaflet of biological membranes. Lipid flipping is important for the biogenesis of transport vesicles. Recently it was shown that loss of the P4 ATPases ATP8B1 and ATP11C are associated with severe Cholestatic liver disease. Mutation of ATP8B1 cause progressive familial Intrahepatic Cholestasis type 1 (PFIC1)and benign recurrent intrahepatic cholestasis type 1 (BRIC 1). From our observations we hypothesized that ATP8B1 deficiency causes a phospholipids randomization at the canalicular membrane, which results in extraction of cholesterol due to increase sensitivity of the canalicular membrane. Deficiency of ATP11C causes conjugated hyperbilirubinemia. In our preliminary result we observed accumulation of unconjugated bile salts in Atp11c deficient mice probably because of regulation in the expression or function of OATP1B2. Similar to ATP8B1, ATP11C have regulation on membrane transporters.

scholarly journals Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1

2021 ◽  
Vol 8 ◽  
Author(s):  
Huayu Chen ◽  
Dongbo Wu ◽  
Wei Jiang ◽  
Ting Lei ◽  
Changli Lu ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Liver Function Tests ◽  
Liver Disorder ◽  
Chinese Patient ◽  
The Novel ◽  
Homozygous Variant ◽  
Benign Recurrent Intrahepatic Cholestasis ◽  
Common Causes ◽  
Work Up

Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary cholestatic liver disorder. Accurate diagnosis and timely interventions are important in determining outcomes. Besides clinical and pathologic diagnosis, genetic study of BRIC remains limited. Here, we report a young man enduring recurrent jaundice and severe pruritus for 15 years. The increased level of direct bilirubin was the main biochemical abnormality, and the work-up for common causes of jaundice were unremarkable. Liver biopsy showed extensive cholestasis of hepatocytes in zone 3. The novel homozygous variant including c.1817T > C and p.I606T was detected on his ATP8B1gene. The patient was finally diagnosed with BRIC-1. His symptoms were relieved, and liver function tests returned to normal after taking ursodeoxycholic acid. This case provides a different perspective to the methodology employed when dealing with cases of jaundice and helping diagnose rare diseases.

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