ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10402504" target="_blank" >RIV/00216208:11110/20:10402504 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/20:43919203 RIV/00216208:11130/20:10402504 RIV/00064173:_____/20:N0000128 RIV/00064203:_____/20:10402504 and 2 more
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=575GLT1gG2" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=575GLT1gG2</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5507/bp.2019.054" target="_blank" >10.5507/bp.2019.054</a>
Alternative languages
Result language
angličtina
Original language name
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall
Original language description
INTRODUCTION: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare autosomal recessive cholestatic liver disorder caused by genetic deficiency of ATP-binding cassette subfamily B member 4 (ABCB4), a hepatocanalicular floppase translocating phospholipids from the inner to the outer leaflet of the canalicular membrane lipid bilayer. PFIC3 is characterised by production of hydrophilic bile with lithogenic properties which is harmful to the hepatobiliary epithelia. Chronic cholestasis in some patients may be accompanied by excessive accumulation of copper in the liver and by increased urinary copper excretion, the findings mimicking Wilson disease (WD). METHODS AND RESULTS: We report an 11 y/o male patient with growth retardation, mild craniofacial dysmorphic features and chronic liver disease, initially diagnosed and treated as WD. Whereas genetic testing for WD was negative, further molecular and histopathological analysis revealed two novel mutations (c.833+1G>T and c.1798T>A) in ABCB4 and complete absence of the ABCB4/MDR3 protein in the liver, determining PFIC3 as the correct diagnosis. CONCLUSION: PFIC3 and WD display pleomorphic and sometimes overlapping clinical and laboratory features, which may pose a differential diagnostic problem. Since the patient management in WD and PFIC3 differs significantly, an early and accurate diagnosis is crucial for optimising of therapeutic approach and prevention of possible complications.
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
Biomedical Papers
ISSN
1213-8118
e-ISSN
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Volume of the periodical
164
Issue of the periodical within the volume
1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
5
Pages from-to
121-125
UT code for WoS article
000528221900015
EID of the result in the Scopus database
2-s2.0-85082634893