Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
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.
...
PMID:Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2. 3264 38
