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Title: | Intrahepatic cholestasis of pregnancy: when should you look further? | Austin Authors: | Hardikar, Winita;Kansal, Shivani;Oude Elferink, Ronald P J;Angus, Peter W | Affiliation: | Victorian Liver Transplant Unit, Austin Hospital, Melbourne 3084, Australia | Issue Date: | 7-Mar-2009 | Publication information: | World Journal of Gastroenterology; 15(9): 1126-9 | Abstract: | Pruritus with abnormal liver function tests is the classical presentation of intrahepatic cholestasis of pregnancy (ICP), a condition associated with significant fetal complications. Although the etiology of ICP is unclear in many cases, certain features of the clinical presentation should alert the practitioner to the possibility of an underlying metabolic defect, which may not only affect subsequent pregnancies, but may be an indicator of more serious subsequent liver disease. We report a kindred of Anglo-Celtic descent, among whom many members present with ICP, gallstones or cholestasis related to use of oral contraception. Genetic studies revealed a novel mutation in the ABCB4 gene, which codes for a phospholipid transport protein. The clinical significance of this mutation and the importance of identifying such patients are discussed. | Gov't Doc #: | 19266607 | URI: | http://ahro.austin.org.au/austinjspui/handle/1/10782 | Journal: | World Journal of Gastroenterology | URL: | https://pubmed.ncbi.nlm.nih.gov/19266607 | Type: | Journal Article | Subjects: | Adult Cholestasis, Intrahepatic.epidemiology.genetics DNA.genetics Ethnic Groups.genetics Female Fetal Diseases.diagnosis Humans Liver Function Tests Male P-Glycoproteins.genetics Pedigree Pregnancy Pregnancy Complications.epidemiology.genetics |
Appears in Collections: | Journal articles |
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