Colestasis intrahepática familiar progresiva tipo 3. Defecto de MDR3

Fernández, Modesta Gómez; López, Víctor Manuel Navas; Alonso, J. Blasco; Salinas, C. Sierra; Gálvez, Ana

doi:10.1157/13124903

Cited by 3 publications

(2 citation statements)

References 9 publications

(11 reference statements)

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“…Most of the MDR3 gene variants have reported an association with disease causation, such as PFIC and intrahepatic cholestasis of pregnancy [14,15] . In contrast, the R652G variant seems to have a protective effect.…”

Section: Discussionmentioning

confidence: 99%

Multidrug resistance protein 3 R652G may reduce susceptibilityto idiopathic infant cholestasis

Chen¹,

Wang²,

Shan³

et al. 2009

WJG

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AIM:To evaluate the role of genetic factors in the pathogenesis of idiopathic infant cholestasis. METHODS:We performed a case-control study, including 78 infants with idiopathic infant cholestasis and 113 healthy infants as controls. Genomic DNA was extracted from peripheral venous blood leukocytes using phenol chloroform methodology. Polymerase chain reaction was used to amplify the multidrug resistance protein 3 (MDR3) R652G fragment, and products were sequenced using the ABI 3100 Sequencer. RESULTS:The R652G single nucleotide polymorphism (SNP) was significantly more frequent in healthy infants (allele frequency 8.0%) than in patients (allele frequency 2.60%) (P < 0.05), odds ratio, 0.29; 95% confidence interval, 0.12-0.84. The conjugated bilirubin in patients with the AG genotype was significantly lower than in those with the AA genotype (44.70 ± 6.15 μmol/L vs 95.52 ± 5.93 μmol/L, P < 0.05).CONCLUSION: MDR3 R652G is negatively correlated with idiopathic infant cholestasis. Children with the R652G SNP in Guangxi of China may have reduced susceptibility to infant intrahepatic cholestasis.

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Section: Discussionmentioning

confidence: 99%

Multidrug resistance protein 3 R652G may reduce susceptibilityto idiopathic infant cholestasis

Chen¹,

Wang²,

Shan³

et al. 2009

WJG

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“…PFIC3 results from diseases causing variants in the ABCB4 gene located on chromosome 7q21. This gene is translated into the protein MDR3 with an essential role in biliary phospholipid (phosphatidylcholine) excretion across the canalicular membrane (7)(8)(9). Bile from patients with PFIC3 is not inactivated by phospholipids (with very low concentrations of phospholipid) that results in bile canaliculi and biliary epithelium injuries, leading to cholangitis and cholestasis cholestatic liver disease (10).…”

Section: Introductionmentioning

confidence: 99%

Investigation of Common Variations of ABCB4, ATP8B1 and ABCB11 Genes in Patients with Progressive Familial Intrahepatic Cholestasis

et al. 2017

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Background: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of hepatic disorders that can progress rapidly, leading to cirrhosis and death due to liver failure. Mutations and variations in three genes, including ATP8B1, ABCB11, and ABCB4, have been reported to be the main genetic cause of three subtypes of this disorder including PFIC1, PFIC2, and PFIC3, respectively. Objectives: Therefore, the aim of this study was to investigate more common mutations and variations associated with PFIC considering clinical and Para-clinical features of the disease. Methods: Thirty-five unrelated patients with PFIC from the south of Iran were selected randomly among all PFIC patients referring to Namazi hospital, affiliated to Shiraz University of Medical Sciences. Genomic DNA was extracted from the peripheral blood lymphocytes. Sequences related to these variations were then amplified by PCR in the 35 cholestasis patients and analyzed by Sanger® sequencing.

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Features of early diagnosis of progressive familial intrahepatic cholestasis (PFIC)

Волынец¹,

Намазова-баранова²,

Потапов³

et al. 2019

jour

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Colestasis intrahepática familiar progresiva tipo 3. Defecto de MDR3

Cited by 3 publications

References 9 publications

Multidrug resistance protein 3 R652G may reduce susceptibilityto idiopathic infant cholestasis

Multidrug resistance protein 3 R652G may reduce susceptibilityto idiopathic infant cholestasis

Investigation of Common Variations of ABCB4, ATP8B1 and ABCB11 Genes in Patients with Progressive Familial Intrahepatic Cholestasis

Features of early diagnosis of progressive familial intrahepatic cholestasis (PFIC)

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