ABCB4 disease: Many faces of one gene deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10402007" target="_blank" >RIV/00216208:11110/20:10402007 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/20:43919239 RIV/00064173:_____/20:N0000129 RIV/00023001:_____/20:00079457
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=e5CYIj6IrX" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=e5CYIj6IrX</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.aohep.2019.09.010" target="_blank" >10.1016/j.aohep.2019.09.010</a>
Alternative languages
Result language
angličtina
Original language name
ABCB4 disease: Many faces of one gene deficiency
Original language description
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 all individuals with cholestasis of unknown aetiology, regardless of age and/or time of onset of the first symptoms.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30219 - Gastroenterology and hepatology
Result continuities
Project
<a href="/en/project/NV18-06-00032" target="_blank" >NV18-06-00032: Molecular basis and mechanisms of familial intrahepatic cholestasis</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals of Hepatology
ISSN
1665-2681
e-ISSN
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Volume of the periodical
19
Issue of the periodical within the volume
2
Country of publishing house
ES - SPAIN
Number of pages
8
Pages from-to
126-133
UT code for WoS article
000518442900003
EID of the result in the Scopus database
2-s2.0-85075891440