Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to
Alpha-fetoprotein
Bile salt export pump
Case report
Liver transplantation
Neonatal cholestasis
Progressive familial intrahepatic cholestasis
Journal
World journal of clinical cases
ISSN: 2307-8960
Titre abrégé: World J Clin Cases
Pays: United States
ID NLM: 101618806
Informations de publication
Date de publication:
26 May 2021
26 May 2021
Historique:
received:
17
10
2020
revised:
16
12
2020
accepted:
24
02
2021
entrez:
28
5
2021
pubmed:
29
5
2021
medline:
29
5
2021
Statut:
ppublish
Résumé
Functioning farnesoid X receptor (FXR; encoded by A boy had severe neonatal cholestasis with moderate hypercholanemia and persistently elevated alpha-fetoprotein. Despite medical treatment, coagulopathy was uncontrollable, prompting liver transplantation at age 8 mo with incidental splenectomy. The patient experienced catch-up growth with good liver function and did not develop allograft steatosis. However, 1 year after transplant, he died from an acute infection, considered secondary to immunosuppression and asplenia. A homozygous protein-truncating mutation, c.547C > T, p.(Arg183Ter), was subsequently identified in Severe cholestasis with persistently high alpha-fetoprotein and modest elevation of serum bile acid levels may suggest FXR deficiency. Some patients with FXR deficiency may not develop allograft steatosis and may respond well to liver transplantation.
Sections du résumé
BACKGROUND
BACKGROUND
Functioning farnesoid X receptor (FXR; encoded by
CASE SUMMARY
METHODS
A boy had severe neonatal cholestasis with moderate hypercholanemia and persistently elevated alpha-fetoprotein. Despite medical treatment, coagulopathy was uncontrollable, prompting liver transplantation at age 8 mo with incidental splenectomy. The patient experienced catch-up growth with good liver function and did not develop allograft steatosis. However, 1 year after transplant, he died from an acute infection, considered secondary to immunosuppression and asplenia. A homozygous protein-truncating mutation, c.547C > T, p.(Arg183Ter), was subsequently identified in
CONCLUSION
CONCLUSIONS
Severe cholestasis with persistently high alpha-fetoprotein and modest elevation of serum bile acid levels may suggest FXR deficiency. Some patients with FXR deficiency may not develop allograft steatosis and may respond well to liver transplantation.
Identifiants
pubmed: 34046462
doi: 10.12998/wjcc.v9.i15.3631
pmc: PMC8130085
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3631-3636Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK094828
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006493
Pays : United States
Informations de copyright
©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: Dr. Thompson consults for Albireo, Mirum, GenerationBio, Alnylam, Qing Bile, Horizon, Sana, and Retrophin and has share options in Qing Bile and GenerationBio. Other authors report no conflicts of interest.
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