CareLit Fachartikel
Whole-exome sequencing identifies novel mutation in intrahepatic cholestasis of pregnancy: A case report and literature review
Xixi Deng, Xueqi Li, Yongchi Zhan, Yuxin Ren · Zeitschrift für Geburtshilfe und Neonatologie · 2025 · Heft 04 · S. 288-293
Dokument
949447
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Jahr
2025
Publikation
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Zusammenfassung
Abstract Objective Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disease characterized by pruritus and elevated total bile acid (TBA) levels. The most serious impact of ICP is sudden unexplained intrauterine fetal death, especially when an associated TBA ≥ 100 µmol/L is confirmed. Methods We report a case of a 27-year-old female patient with early-onset severe refractory ICP. Whole-exome sequencing and mutation analyses were performed to obtain genetic data on the patient and her mother. Sanger sequencing was performed to screen the mutation site. Computer-based algorithms were applie…
Schlagworte
intrahepatic cholestasis of pregnancy
bile acids
ABCD3
ursodeoxycholic acid
mutation
Zeitschrift für Geburtshilfe und Neonatologie
