Beyond an obvious cause of cholestasis in a toddler: compound heterozygosity for ABCB11 mutations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F19%3A00078119" target="_blank" >RIV/00023001:_____/19:00078119 - isvavai.cz</a>
Result on the web
<a href="https://pediatrics.aappublications.org/content/143/5/e20182146" target="_blank" >https://pediatrics.aappublications.org/content/143/5/e20182146</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1542/peds.2018-2146" target="_blank" >10.1542/peds.2018-2146</a>
Alternative languages
Result language
angličtina
Original language name
Beyond an obvious cause of cholestasis in a toddler: compound heterozygosity for ABCB11 mutations
Original language description
A 27-month-old girl with severe cholestasis, a compound heterozygote for PFIC2-associated and BRIC2-associated ABCB11 mutations, over 5 years developed cirrhosis necessitating liver transplant. A 27-month-old girl presented with a short history of jaundice initially attributed to drug-induced liver injury. During the preceding 20 days, she had received a 10-day course of cefprozil and 2 doses of a homeopathic preparation of cantharidin for cystitis. Severe conjugated hyperbilirubinemia was present with normal gamma-glutamyl transpeptidase activity. Liver biopsy revealed marked canalicular and hepatocellular cholestasis, with moderate hepatocellular disarray, as well as evidence of chronicity, including moderate portal-tract and perisinusoidal fibrosis. Immunohistochemical studies revealed that bile salt export pump expression was preserved, whereas canalicular gamma-glutamyl transpeptidase expression was largely absent. An inherited cholestatic disorder was suspected. The entire coding region of ABCB11, encoding bile salt export pump, was analyzed. The patient was found to be a compound heterozygote for the missense mutation c.3148C>T (p.Arg1050Cys) associated with benign recurrent intrahepatic cholestasis type 2 in the homozygous state and for the nonsense mutation c.3904G>T (p.Glu1302Ter) associated with progressive familial intrahepatic cholestasis type 2. Despite initial improvement with ursodeoxycholic acid, over the course of 5 years the patient developed cirrhosis that required liver transplant. Our report emphasizes the need for molecular studies even in patients with putatively explained cholestasis to reveal the entire spectrum of inherited cholestatic disorders.
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
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Pediatrics
ISSN
0031-4005
e-ISSN
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Volume of the periodical
143
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
"art. no. e20182146"
UT code for WoS article
000474923900007
EID of the result in the Scopus database
2-s2.0-85065511192