Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0008370 (cholestasis)
 9,378 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign recurrent intrahepatic cholestasis represents a rare class of autosomal recessive chronic cholestasis disorders, usually presenting with recurrent episodes of intense pruritus and jaundice. We report a 27-year-old woman presenting with benign recurrent intrahepatic cholestasis type 2 due to heterozygosity in ABCB11. Interestingly, she was also found to be heterozygous in cystic fibrosis transmembrane conductance regulator, NPHP4, and A1ATD (SERPINA1), which may explain the severe nature of her disease expression because heterozygosity in each of these genes has been associated with cholestasis. Finally, she exhibited a response to steroids that may have implications for future treatment of bile salt export pump-related diseases.
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PMID:Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2. 3264 38

Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disease often causing episodes of jaundice since childhood. Its triggering factors are still unknown. Hyperthyroidism solely is an infrequent cause of jaundice, and it was never described in association with BRIC. In this article, we reported a woman presenting with a new episode of BRIC and was found to have concomitant hyperthyroidism in the absence of any other potential trigger factor. We conclude that hyperthyroidism may trigger cholestasis in patients with BRIC.
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PMID:Hyperthyroidism as a Potential Trigger for Benign Recurrent Intrahepatic Cholestasis. 3276 65


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