Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10782
Title: Intrahepatic cholestasis of pregnancy: when should you look further?
Authors: Hardikar, Winita;Kansal, Shivani;Oude Elferink, Ronald P J;Angus, Peter W
Affiliation: Victorian Liver Transplant Unit, Austin Hospital, Melbourne 3084, Australia. winita.hardikar@rch.org.au
Issue Date: 7-Mar-2009
Citation: 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.
Internal ID Number: 19266607
URI: http://ahro.austin.org.au/austinjspui/handle/1/10782
URL: http://www.ncbi.nlm.nih.gov/pubmed/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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