Results 31 to 40 of about 3,364 (172)

Case Report: Intrahepatic cholestasis: a diagnostic dilemma [version 2; peer review: 1 approved, 3 approved with reservations]

Wellcome Open Research, 2023
Cholestasis is an impairment of bile formation or bile flow. The mechanisms of cholestasis can be broadly classified into intrahepatic and extrahepatic.
Janak Koirala, Bimal Pandey, Sudeep Adhikari, Ram Chandra Panthi, Buddha Basnyat, Roshan Shrestha, Udit Acharya   +6 more
doaj   +3 more sources

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review [PDF]

Frontiers in Genetics
We report a pediatric case of cholestatic liver disease associated with two novel compound heterozygous variants in the USP53 gene: a truncating c.1219A>T (p.Lys407*) variant inherited from the father and a maternally inherited gross deletion ...
Ekaterina Nuzhnaya, Tatiana Cherevatova, Ekaterina Lotnik, Aleksandra Shagiazdanova, Zhanna Markova, Ekaterina Filimonova, Olga Parshina, Anastasiia Buianova, Anastasia Bobreshova, Andrey Marakhonov, Natalia Semenova   +10 more
doaj   +2 more sources

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

PLoS ONE, 2015
Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci   +5 more
doaj   +2 more sources

Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature. [PDF]

World J Hepatol, 2020
BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.
Piazzolla M, Castellaneta N, Novelli A, Agolini E, Cocciadiferro D, Resta L, Duda L, Barone M, Ierardi E, Di Leo A.   +9 more
europepmc   +2 more sources

Cholestatic Liver Disease in Late Childhood: A Report of Two Rare Cases [PDF]

Journal of Clinical and Diagnostic Research, 2023
Cholestatic liver disease in late childhood has a comprehensive list of aetiologies, requiring a multidimensional approach. Among these, the genetic aetiology can range from having a self-limiting course to being associated with morbidity and mortality ...
Sangeeta kini, Azmat Momin, Rima N Kamat, Sameet Patel, Pravin N Rathi   +4 more
doaj   +1 more source

Prolonged Intrahepatic Cholestasis After Acute Hepatitis E Infection: A Case Series and Genetic Analysis. [PDF]

J Viral Hepat
ABSTRACT Hepatitis E virus (HEV) is a leading cause of acute viral hepatitis worldwide. Whereas HEV infection is typically self‐limiting, rare cases of prolonged cholestasis have been reported. The underlying mechanisms remain unclear, though host genetic variation may contribute.
Fraga M, Kasmi S, Weber SN, Liebe R, Sempoux C, Saadat A, Fellay J, Kenngott-Kelber S, Zimmer V, Lammert F, Krawczyk M, Jüngst C.   +11 more
europepmc   +2 more sources

Benign Recurrent Intrahepatic Cholestases [PDF]

, 2001
Benign recurrent intrahepatic cholestasis (BRIC) or idiopathic recurrent intrahepatic cholestasis is a rare case. It is a familial and autosomal recessive. The etiology of BRIC is still unknown. We report the case of a patient with BRIC who suffered from
Lesmana, L. A. (L), Lesmana, L A, Noer, S. (Sjaifoellah), Akbar, Femmy Nurul, Marwoto, W. (Wirasmi), Budihusodo, Unggul, Akbar, F. N. (Femmy), Budihusodo, U. (Unggul), Noer, Sjaifoellah, Marwoto, Wirasmi   +9 more
core   +1 more source

Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. [PDF]

Hepatol Commun, 2018
Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we
Holz R, Kremer AE, Lütjohann D, Wasmuth HE, Lammert F, Krawczyk M.   +5 more
europepmc   +2 more sources

Identification of low gamma-glutamyl transferase familial intrahepatic cholestasis - benign recurrent intrahepatic cholestasis in a 22-year-old woman: A case report and literature review

Fides et Ratio, 2022
Introduction: Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder characterized by recurrent episodes of cholestatic jaundice that may last days to months. It can start at any age, but often in a first decade of life. The syndrome
Marta Kamińska, Jakub Klapaczyński, Urszula Ołdakowska-Jedynak, Dorota Kamińska   +3 more
doaj   +1 more source

Farnesoid x Receptor Deficiency Promotes Hepatocytic Injury in Cyp2c70‐Deficient Mice With a Human‐Like Bile Acid Composition

Liver International, Volume 46, Issue 5, May 2026.
ABSTRACT Background and Aims Loss‐of‐function mutations in bile acid (BA)‐activated farnesoid x receptor (FXR/NR1H4) cause severe neonatal liver pathology in humans, earlier referred to as progressive familial intrahepatic cholestasis type 5 (PFIC5). However, Fxr‐deficient mice do not develop early‐onset liver disease, possibly due to the predominance ...
Hilde D. de Vries, Jinxiao Li, Kirill Ustyantsev, Milaine V. Hovingh, Niels L. Mulder, Rick Havinga, Anna Palmiotti, Krisztina de Bruyn, Brecht Attema, Ellen Weersing, Rachel E. Thomas, Vincent W. Bloks, Eugene Berezikov, Martijn van Faassen, Henkjan J. Verkade, Jan Freark de Boer, Folkert Kuipers   +16 more
wiley   +1 more source