Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis

Elderman, Jan H; Borg, Pieter C. J. ter; Dees, Jan; Dees, A

doi:10.1136/bcr-2014-206919

Cited by 4 publications

(2 citation statements)

References 14 publications

(11 reference statements)

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“…The plasma of the hepatocytes around the nodules appearing as an air halo, copper particle deposition, and positive CK7 expression of intermediate liver cells are morphological characteristics indicative of biliary cirrhosis, and all patients had these findings. In previous research, these findings have been reported to be consistent with histological changes in the liver of adult patients with PFIC3 ( 20 ). Furthermore, liver biopsies revealed ductular proliferation with mild inflammation, which is indicative of early stages of fibrosis in the portal tract.…”

Section: Discussionsupporting

confidence: 87%

Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China

Cheng

Gong

et al. 2022

Front. Med.

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ObjectiveTo improve the accuracy of the diagnosis of familial progressive intrahepatic cholestasis type 3 (PFIC3, https://www.omim.org/entry/602347).Materials and methodsBetween September 2019 and March 2021, we recruited four patients with PFIC3 from two liver centers in East China. Molecular genetic findings of ATP-binding cassette subfamily B member 4 [ATP binding cassette transporter A4 (ABCB4), https://www.omim.org/entry/171060] were prospectively examined, and clinical records, laboratory readouts, and macroscopic and microscopic appearances of the liver were analyzed.ResultsFour patients experienced cholestasis, mild jaundice, and elevated levels of serum direct bilirubin, γ-glutamyltransferase, or total bile acids. All patients had moderate-to-severe liver fibrosis or biliary cirrhosis, and their liver biopsy specimens stained positive with rhodamine. Molecular immunohistochemistry revealed reduced or absent MDR3 expression in all liver specimens. A novel mutation of ABCB4 (c.1560 + 2T > A) was identified in patients with PFIC3, which is of high clinical significance and may help understand mutant ABCB4 pathogenesis.ConclusionMDR3 immunohistochemistry and molecular genetic analyses of ABCB4 are essential for the accurate diagnosis of PFIC3.

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Section: Discussionsupporting

confidence: 87%

Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China

Cheng

Gong

et al. 2022

Front. Med.

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“…Cholecystolithiasis is a multifactorial disease, the pathogenesis involves both genetic and environmental factors, of these, genetic factors account on an average for 25–29% of the risk (Nakeeb et al, 2002; Stokes et al, 2011 ; 2014). The nuclear gene ABCB4 (ATP-binding cassette B4) is closely related to the occurrence of cholecystolithiasis ( Jirsa et al, 2014 ; Elderman et al, 2015 ). In addition, the variants of ABCG8 and UGT1A1 have been identified to be involved, it may contribute to 21.2% the male population ( Buch et al, 2010 ; Buch et al, 2010 ).…”

Section: Disccusionmentioning

confidence: 99%

The Mitochondrial tRNAPhe 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis

Hou

et al. 2022

Front. Genet.

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In this study, we assessed three Chinese families with inherited cholecystolithiasis and conducted the clinical, genetic, and molecular characterization of these subjects. Eight of eighteen matrilineal relatives had a clinical phenotype in these three families. Sequence analysis of complete mitochondrial genomes in these probands identified the homoplasmic tRNAPhe 625 G > A mutation and distinct sets of mtDNA polymorphisms belonging to haplogroups H2, F4b, and M10a. The 625G > A mutation disturbed the classic G-C base-pairings at a highly conserved position 49 in the T-stem of mitochondrial tRNAs. Molecular dynamics simulation showed that the structure of tRNAphe with 625 G > A mutation was noticeably remodeled while compared with the isoform of the wild type. The occurrence of tRNAPhe 625 G > A mutation in these various genetically unrelated subjects strongly indicates that this mutation is involved in the pathogenesis of cholecystolithiasis. This is the first evidence that tRNA mutations are associated with cholecystolithiasis, and it provided more insights into the genetic mechanism of cholecystolithiasis.

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ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed

Avena

Puggelli

Morris³

et al. 2021

Digestive and Liver Disease

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Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis

Cited by 4 publications

References 14 publications

Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China

Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China

The Mitochondrial tRNAPhe 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis

ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed

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