Progressive familial intrahepatic cholestasis in adulthood: 60 years’ follow-up

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F20%3A00079663" target="_blank" >RIV/00023001:_____/20:00079663 - isvavai.cz</a>

Alternative codes found

RIV/00064173:_____/20:N0000131

Result on the web

<a href="https://www.cskb.cz/wp-content/uploads/2020/05/KBM_1_2020_Jirsa-11.pdf" target="_blank" >https://www.cskb.cz/wp-content/uploads/2020/05/KBM_1_2020_Jirsa-11.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Progressive familial intrahepatic cholestasis in adulthood: 60 years’ follow-up

Original language description

Objective: Identify molecular basis of cholestatic cirrhosis with hepatocellular carcinoma (HCC) in a 55-year-old woman Design: Case study Settings: Center of Cardiovascular Surgery and Transplantation, Brno, Czech Republic Material and Methods: A woman aged 60y had pruritus and icterus as an infant, with normal-range serum gamma-glutamyl transpeptidase activity, that were palliated effectively by biliary diversion and pharmacotherapy. Cirrhosis (diagnosed at age 20y) was complicated by portal hypertension with variceal bleeding (29y) and hypersplenism requiring splenectomy (34y). Jaundice recurred after a viral illness treated with acetaminophen, and worsened; serum alpha-fetoprotein was elevated, and magnetic resonance imaging found a 22mm left-lobe mass. At transplant hepatectomy (55y), HCC arisen in cirrhosis was confirmed. Immunostaining for bile salt export pump (BSEP), encoded by ABCB11, was conducted and ATP8B1, ABCB11 and TJP2 were analyzed in the patient and her first-degree relatives. Results: BSEP was unremarkably expressed in the explanted liver. Compound heterozygosity for 2 pathogenic point mutations in ABCB11, encoding bile salt export pump (BSEP), was identified (c.2495G&gt;A [p.Arg.832His] and c.2629G&gt;A [p.Gly877Arg]), without ATP8B1 lesions. Both mutations are reported in association with progressive familial intrahepatic cholestasis. Conclusion: HCC associated with PFIC due to ABCB11 mutations is recognized in children. To our knowledge, no report in an adult has yet appeared. Our patient had PFIC with functional but not absolute deficiency of BSEP. Unusually slow progression of her disease can be attributed to residual BSEP function, assisted by surgical and medical palliative interventions

Czech name

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Czech description

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Type

J_ost - Miscellaneous article in a specialist periodical

CEP classification

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OECD FORD branch

30219 - Gastroenterology and hepatology

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)

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Klinická biochemie a metabolismus

ISSN

1210-7921

e-ISSN

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Volume of the periodical

28

Issue of the periodical within the volume

1

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

4

Pages from-to

11-14

UT code for WoS article

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EID of the result in the Scopus database

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