ABCB4 disease: Many faces of one gene deficiency.

ABCB4 disease: Many faces of one gene deficiency. Ann Hepatol. 2019 Oct 31;: Authors: Sticova E, Jirsa M Abstract ATP-binding cassette (ABC) subfamily B member 4 (ABCB4), also known as multidrug resistance protein 3 (MDR3), encoded by ABCB4, is involved in biliary phospholipid secretion, protecting hepatobiliary system from deleterious detergent and lithogenic properties of the bile. ABCB4 mutations altering canalicular ABCB4 protein function and expression may have variable clinical presentation and predispose to several human liver diseases. Well-established phenotypes of ABCB4 deficit are: progressive familial intrahepatic cholestasis type 3, gallbladder disease 1 (syn. low phospholipid associated cholelithiasis syndrome), high ɣ-glutamyl transferase intrahepatic cholestasis of pregnancy, chronic cholangiopathy, and adult biliary fibrosis/cirrhosis. Moreover, ABCB4 aberrations may be involved in some cases of drug induced cholestasis, transient neonatal cholestasis, and parenteral nutrition-associated liver disease. Recently, genome-wide association studies have documented occurrence of malignant tumours, predominantly hepatobiliary malignancies, in patients with ABCB4/MDR3 deficit. The patient's age at the time of the first presentation of cholestatic disease, as well as the severity of liver disorder and response to treatment are related to the ABCB4 allelic status. Mutational analysis of ABCB4 in patients and their families should be considered in ...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research

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Source: Expert Review of Anti-Infective Therapy - Category: Infectious Diseases Tags: Expert Rev Anti Infect Ther Source Type: research
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Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
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Source: Food and Nutrition Research - Category: Nutrition Authors: Tags: Food Nutr Res Source Type: research
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Source: Journal of Pregnancy - Category: OBGYN Tags: J Pregnancy Source Type: research
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Source: Journal of Pregnancy - Category: OBGYN Tags: J Pregnancy Source Type: research
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Source: Journal of Pregnancy - Category: OBGYN Tags: J Pregnancy Source Type: research
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Source: Ecology of Food and Nutrition - Category: Nutrition Tags: Ecol Food Nutr Source Type: research
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Source: Nutrition, Metabolism and Cardiovascular Diseases - Category: Nutrition Source Type: research
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