Journal
CANADIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
Volume 25, Issue 6, Pages 311-314Publisher
HINDAWI LTD
DOI: 10.1155/2011/534918
Keywords
ABCB11; Benign recurrent cholestasis
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Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of the ABCB11 gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.
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