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: EC:3.6.3.1 (
Mg2+-ATPase
)
1,484
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Benign recurrent intrahepatic cholestasis
(
BRIC
) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular
flippase
for phosphatidylserine (ATP8B1;
BRIC
type 1) or the bile salt export pump (ABCB11;
BRIC
type 2). Here, we report on a patient with nasobiliary drainage-refractory
BRIC
type 2 who improved under plasma separation and anion absorption therapy. We also suggest that nasobiliary drainage might be an ineffective approach in carriers of severe loss-of-function mutations of the bile salt export pump ABCB11. (
Hepatology Communications
2018;2:152-154).
...
PMID:Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. 2940 23
