Intrahepatic Cholestasis of Pregnancy Clinical Trial
Official title:
Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group.
Mutations of the ATP binding cassette subfamily B member 4 (ABCB4) gene, a gene involved in
a subtype of progressive familial intrahepatic cholestasis, have been reported in women
suffering from intrahepatic cholestasis of pregnancy. The true incidence and the role of
these ABCB4 gene mutations in patients suffering from intrahepatic cholestasis of pregnancy
have not been clearly established.
The aim of the present study is to describe the nature and frequency of these mutations in a
series of patients with intrahepatic cholestasis of pregnancy and to compare with a control
group of pregnant women without intrahepatic cholestasis of pregnancy.
Intrahepatic cholestasis of pregnancy was defined by pruritus and elevated serum alanine
aminotransferase activity or bile acid concentration, with recovery after delivery. Patients
with intercurrent liver disease were excluded.
The entire ABCB4 gene coding sequence and the promoter region were analyzed, during the
routine medical management, by single strand conformation polymorphism and/or sequencing in
50 unrelated Caucasian patients with intrahepatic cholestasis of pregnancy.
The genomic variants detected in these patients with intrahepatic cholestasis of pregnancy
will be sought in 100 control women from Caucasian origin recruited in the same hospital.
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Observational Model: Cohort, Time Perspective: Prospective
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