Novel
ABCB4 gene
Case report
Infertility
Intrahepatic cholestasis of pregnancy
Progressive familial intrahepatic cholestasis type 3
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 Feb 2022
26 Feb 2022
Historique:
received:
29
08
2021
revised:
25
11
2021
accepted:
11
01
2022
entrez:
23
3
2022
pubmed:
24
3
2022
medline:
24
3
2022
Statut:
ppublish
Résumé
Mutations that occur in the This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver function. Her primary clinical signs were elevated levels of alkaline phosphatase and γ-glutamyl transpeptidase. Other possible reasons for liver dysfunction were eliminated in this patient, resulting in a diagnosis of PFIC3. The diagnosis was confirmed using gene detection and histological analyses. Assessments using genetic sequencing analysis indicated the presence of two novel heterozygous mutations in the These novel
Sections du résumé
BACKGROUND
BACKGROUND
Mutations that occur in the
CASE SUMMARY
METHODS
This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver function. Her primary clinical signs were elevated levels of alkaline phosphatase and γ-glutamyl transpeptidase. Other possible reasons for liver dysfunction were eliminated in this patient, resulting in a diagnosis of PFIC3. The diagnosis was confirmed using gene detection and histological analyses. Assessments using genetic sequencing analysis indicated the presence of two novel heterozygous mutations in the
CONCLUSION
CONCLUSIONS
These novel
Identifiants
pubmed: 35317165
doi: 10.12998/wjcc.v10.i6.1998
pmc: PMC8891790
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1998-2006Informations de copyright
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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