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Serial Total Bile Acid Measurements in Intrahepatic Cholestasis of Pregnancy.
Obstet Gynecol
January 2025
Department of Obstetrics, Gynecology and Reproductive Science, University of California, San Diego, San Diego, California; and the Department of Obstetrics, Gynecology and Reproductive Science, Mount Sinai Health System & Icahn School of Medicine at Mount Sinai, New York, and the Department of Obstetrics, Gynecology and Reproductive Science, New York City Health and Hospitals - Elmhurst Hospital Center, Elmhurst, New York.
Although peak serum total bile acid (TBA) levels guide management of intrahepatic cholestasis of pregnancy (ICP), whether ICP progresses in severity and when or how to assess bile acid levels serially remains unclear. We conducted a secondary analysis of a single-institution retrospective cohort study to assess bile acid trends across pregnancy among individuals diagnosed with ICP and to evaluate whether there was progression to higher ICP severity. We defined ICP severity as mild (peak TBA less than 40 micromol/L), moderate (peak TBA between 40 and 100 micromol/L), or severe (peak TBA 100 micromol/L or greater).
View Article and Find Full Text PDFBiochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency.
Front Pediatr
January 2025
Department of Gastroenterology, Kunming Children's Hospital, Kunming, China.
Background: The diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited. We aim to investigate the biochemical characteristics, genetic variants, and treatment outcome of NICCD patients.
Methods: We compared the nutritional status and biochemical characteristics of 55 NICCD infants and 27 idiopathic neonatal cholestasis (INC) infants.
From chelation to transplantation: lessons from a progressive familial intrahepatic cholestasis type 3 case initially managed as Wilson's disease.
Gastroenterol Rep (Oxf)
January 2025
Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Progressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary Management.
Cureus
December 2024
Internal Medicine, Nishtar Medical University, Multan, PAK.
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare genetic disorder characterized by severe intrahepatic cholestasis, which often manifests in infancy with progressive liver dysfunction. We present the case of a 3-month-old infant with a one-month history of jaundice, vomiting, and bloody stools, presenting a unique set of diagnostic challenges. Initial clinical and laboratory findings indicated significant liver dysfunction, prompting further imaging and genetic analysis.
View Article and Find Full Text PDFAssociation between ABCB4 variants and intrahepatic cholestasis of pregnancy.
Sci Rep
January 2025
Department of Gynecology and Obstetrics, Yijishan Hospital of Wannan Medical College, Wuhu, Anhui, People's Republic of China.
The ABCB4 gene encodes multidrug resistance protein 3(MDR3), which is a phosphatidylcholine(PC) transfer enzyme that transfers lecithin from the inner part of the phospholipid bilayer to the extracellular bile. The occurrence of intrahepatic cholestasis of pregnancy(ICP) is closely related to ABCB4 variants, but there is limited research on this topic in southern Anhui, China. We sequenced ABCB4 in pregnant women with ICP and healthy pregnant women to explore the relationship.
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