Zobrazeno 1 - 10
of 356
pro vyhledávání: '"Benign Recurrent Intrahepatic Cholestasis"'
Autor:
Eleni V. Geladari, Natalia G. Vallianou, Evangelia Margellou, Dimitris Kounatidis, Vassilios Sevastianos, Alexandra Alexopoulou
Publikováno v:
Gastroenterology Insights, Vol 15, Iss 1, Pp 156-167 (2024)
Benign recurrent intrahepatic cholestasis (BRIC) stands as a rare genetic contributor to cholestasis, aligning itself within the spectrum of inherited intrahepatic cholestasis syndromes, such as progressive familial intrahepatic cholestasis (PFIC) an
Externí odkaz:
https://doaj.org/article/c8d980b859f24822865897daf61565b8
Autor:
K. S. Nezhdanov, E. N. Shirokova, Yu. O. Shulpekova, A. S. Ostrovskaya, M. S. Zharkova, V. T. Ivashkin
Publikováno v:
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, Vol 33, Iss 3, Pp 66-75 (2023)
Аim: to highlight the importance of broad differential diagnosis and possibility of conversion of benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype.Key points. A 19-year-old female patient was admitted to the C
Externí odkaz:
https://doaj.org/article/3b376864dd3b4bd7afad404c0ceefb92
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 17, Iss 11, Pp 01-03 (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 mortali
Externí odkaz:
https://doaj.org/article/cc4bcd4812244792b1e98ed092cc0cf7
Autor:
Ryoichi Miura, Tomokazu Kawaoka, Michio Imamura, Masanari Kosaka, Yusuke Johira, Yuki Shirane, Serami Murakami, Shigeki Yano, Kei Amioka, Kensuke Naruto, Yuwa Ando, Yumi Kosaka, Kenichiro Kodama, Shinsuke Uchikawa, Hatsue Fujino, Atsushi Ono, Takashi Nakahara, Eisuke Murakami, Masami Yamauchi, Takao Hinoi, Hiroshi Aikata
Publikováno v:
Case Reports in Gastroenterology, Vol 16, Iss 1, Pp 110-115 (2022)
Benign recurrent intrahepatic cholestasis (BRIC) is a group of genetically heterogeneous autosomal recessive liver disorders characterized by recurrent episodes of jaundice and pruritus. BRIC is divided into two groups, BRIC type 1 (BRIC1) and BRIC t
Externí odkaz:
https://doaj.org/article/2d5ab90640d147808d787c9523edc8d7
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive disorder characterized by recurrent cholestasis. ATPase class I, type 8B, member 1 (ATP8B1) encodes familial intrahepatic cholestasis 1 (FIC1), which acts as a phosphatidylser
Externí odkaz:
https://doaj.org/article/b68715fb5ba245f2bdecefa2997604ad
Autor:
Hiroyuki Suzuki, Teruko Arinaga-Hino, Tomoya Sano, Yutaro Mihara, Hironori Kusano, Tatsuki Mizuochi, Takao Togawa, Shogo Ito, Tatsuya Ide, Reiichiro Kuwahara, Keisuke Amano, Toshihiro Kawaguchi, Hirohisa Yano, Masayoshi Kage, Hironori Koga, Takuji Torimura
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare autosomal recessive disorder that is characterized by intermittent episodes of jaundice and intense pruritus and caused by pathogenic variants of adenosine triphosphatase phospholipid
Externí odkaz:
https://doaj.org/article/273337d8cf2a4d5f9cc9e33997d0884e
Autor:
Turan Çalhan, Elif Yivli
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Benign recurrent intrahepatic cholestasis (BRIC) is a rare disease characterized by recurrent severe itching and jaundice. Coronavirus disease 2019 (COVID‐19) is a multisystemic acute viral disease and the liver is frequently affected. Her
Externí odkaz:
https://doaj.org/article/3611b99fb79643f3925a2a4902246c39
Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 64, Iss 5, Pp 146-148 (2021)
ABCB11 deficiency, formerly benign recurrent intrahepatic cholestasis (BRIC) is a very rare hereditary disorder characterized by the recurrent and intermittent episodes of cholestasis, jaundice, and pruritus. We report the case of a 12-year-old boy p
Externí odkaz:
https://doaj.org/article/0c72f70da8ce45fc8385a256521a78b7
Autor:
Hassib Narchi, Suhailah Alhefeiti, Fatmah Althabahi, Jozef Hertecant, A S Knisely, Abdul-Kader Souid
Publikováno v:
The Saudi Journal of Gastroenterology, Vol 23, Iss 5, Pp 303-305 (2017)
We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p
Externí odkaz:
https://doaj.org/article/00e53234a03d4784a69663192a7e6d32
Publikováno v:
Journal of the Grodno State Medical University. 19:462-467
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 thei