New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications
المؤلفون المشاركون
Jirsa, Milan
Pawłowska, Joanna
Sticova, Eva
المصدر
Canadian Journal of Gastroenterology and Hepatology
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-12، 12ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-07-26
دولة النشر
مصر
عدد الصفحات
12
التخصصات الرئيسية
الملخص EN
Cholestasis is characterised by impaired bile secretion and accumulation of bile salts in the organism.
Hereditary cholestasis is a heterogeneous group of rare autosomal recessive liver disorders, which are characterised by intrahepatic cholestasis, pruritus, and jaundice and caused by defects in genes related to the secretion and transport of bile salts and lipids.
Phenotypic manifestation is highly variable, ranging from progressive familial intrahepatic cholestasis (PFIC)—with onset in early infancy and progression to end-stage liver disease—to a milder intermittent mostly nonprogressive form known as benign recurrent intrahepatic cholestasis (BRIC).
Cases have been reported of initially benign episodic cholestasis that subsequently transitions to a persistent progressive form of the disease.
Therefore, BRIC and PFIC seem to represent two extremes of a continuous spectrum of phenotypes that comprise one disease.
Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of ATP8B1, ABCB11, ABCB4, TJP2, and NR1H4 have been described.
In addition to familial intrahepatic cholestasis, partial defects in ATP8B1, ABCB11, and ABCB4 predispose patients to drug-induced cholestasis and intrahepatic cholestasis in pregnancy.
This review summarises the current knowledge of the clinical manifestations, genetics, and molecular mechanisms of these diseases and briefly outlines the therapeutic options, both conservative and invasive, with an outlook for future personalised therapeutic strategies.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Sticova, Eva& Jirsa, Milan& Pawłowska, Joanna. 2018. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. Canadian Journal of Gastroenterology and Hepatology،Vol. 2018, no. 2018, pp.1-12.
https://search.emarefa.net/detail/BIM-1130887
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Sticova, Eva…[et al.]. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. Canadian Journal of Gastroenterology and Hepatology No. 2018 (2018), pp.1-12.
https://search.emarefa.net/detail/BIM-1130887
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Sticova, Eva& Jirsa, Milan& Pawłowska, Joanna. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. Canadian Journal of Gastroenterology and Hepatology. 2018. Vol. 2018, no. 2018, pp.1-12.
https://search.emarefa.net/detail/BIM-1130887
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1130887
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر