CareLit · DOI-Nachweis · Zeitschrift für Geburtshilfe und Neonatologie
Whole-exome sequencing identifies novel mutation in intrahepatic cholestasis of pregnancy: A case report and literature review
DOI 10.1055/a-2468-5250
Bibliografische Angaben
Nachweis in CareLit
Autor:innenXixi Deng, Xueqi Li, Yongchi Zhan, Yuxin Ren
ZeitschriftZeitschrift für Geburtshilfe und Neonatologie
Ausgabe04/2025
Jahrgang / SeitenJg. 229 · S. 288-293
Kernaussage aus der Literatur
Abstract-Vorschau
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…
Zitieren
Zitierempfehlung
Xixi Deng, Xueqi Li, Yongchi Zhan, Yuxin Ren (2025) Whole-exome sequencing identifies novel mutation in intrahepatic cholestasis of pregnancy: A case report and literature review. Zeitschrift für Geburtshilfe und Neonatologie, 229 (04), 288-293. https://doi.org/10.1055/a-2468-5250
Mit CareLit weiterarbeiten