Topics

ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls

2014-08-27 03:29:48 | BioPortfolio

Summary

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.

Description

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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Intrahepatic Cholestasis of Pregnancy

Location

Service de Gynécologie Obstétrique CHRU Tours
Tours
France
37044

Status

Completed

Source

University Hospital, Tours

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:29:48-0400

Clinical Trials [1104 Associated Clinical Trials listed on BioPortfolio]

Serum Autotaxin Levels in Cholestasis of Pregnancy

Intrahepatic cholestasis of pregnancy is the most common liver disease in pregnancy. It is is a pregnancy-specific liver disorder with onset mainly in the third trimester of pregnancy. ICP...

Metformin in Intrahepatic Cholestasis of Pregnancy

This is a pilot study aimed at comparing the effect of metformin versus ursodeoxycholic acid in women with intrahepatic cholestasis in pregnancy. The study will be conducted in three NHS h...

A Study to Evaluate the Efficacy and Safety of Maralixibat in Subjects With Progressive Familial Intrahepatic Cholestasis (MARCH-PFIC)

The purpose of this study is to determine if the investigational treatment (maralixibat) is safe and effective in pediatric participants with Progressive Familial Intrahepatic Cholestasis ...

Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC)

The purpose of this study is to determine if the investigational treatment (maralixibat) is safe and effective in children and adolescents with Progressive Familial Intrahepatic Cholestasi...

Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic Cholestasis

This is an open label study in children with Progressive Familial Intrahepatic Cholestasis (PFIC) designed to evaluate the safety and efficacy of LUM001. Efficacy will be assessed by eval...

PubMed Articles [2505 Associated PubMed Articles listed on BioPortfolio]

Intrahepatic cholestasis of pregnancy as a risk factor for preeclampsia.

Intrahepatic cholestasis of pregnancy and preeclampsia are two major pregnancy complications. We aimed to investigate the association between intrahepatic cholestasis of pregnancy (ICP) and preeclamps...

Outpatient versus inpatient follow-up for intrahepatic cholestasis of pregnancy.

The optimum management method and the best time of delivery still remain unclear for intrahepatic cholestasis of pregnancy (ICP). We aimed to ascertain whether there is a benefit of close monitoring a...

Perinatal outcomes of intrahepatic cholestasis during pregnancy: An 8-year case-control study.

Previous studies of fetal effects have suggested that intrahepatic cholestasis of pregnancy is associated with a higher rate of adverse neonatal outcomes including preterm birth, neonatal respiratory ...

Role of sphingolipids in the pathogenesis of intrahepatic cholestasis.

Intrahepatic cholestasis of pregnancy (ICP) is the most common pregnancy-related liver disorder that affects from 0.2% to 15.6% pregnant women. The disease is connected with increased risk of fetal mo...

Assessment of Mechanical Fetal PR Interval in Intrahepatic Cholestasis of Pregnancy and Its Relationship with the Severity of the Disease.

 To investigate the fetal atrioventricular conduction system in intrahepatic cholestasis of pregnancy (ICP) by measuring the fetal mechanical PR interval and to explore the significance of predictin...

Medical and Biotech [MESH] Definitions

An ATP-binding cassette, sub-family B protein (P-glycoproteins) that functions in the ATP-dependent secretion of BILE SALTS into the BILE CANALICULI of HEPATOCYTES. Mutations in the ABCB11 gene are associated with progressive familial intrahepatic cholestasis 2 (see CHOLESTASIS, INTRAHEPATIC).

Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).

Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC).

JAUNDICE, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS.

FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.

More From BioPortfolio on "ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls"

Quick Search

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Women's Health
Women's Health - key topics include breast cancer, pregnancy, menopause, stroke Follow and track Women's Health News on BioPortfolio: Women's Health News RSS Women'...

Obstetrics and gynaecology
Fertility Menopause Obstetrics & Gynaecology Osteoporosis Women's Health Obstetrics and gynaecology comprises the care of the pregnant woman, her unborn child and the management of diseases specific to women. Most consultant...


Searches Linking to this Trial