ABCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome - Sorbonne Université Access content directly
Journal Articles JHEP Reports Innovation in Hepatology Year : 2022

ABCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome

Moustafa Biyoukar
  • Function : Author
Christophe Corpechot
Sanaâ El Mouhadi
  • Function : Author
Edouard Chambenois
Quentin Vanderbecq
  • Function : Author
Véronique Barbu
  • Function : Author
Catherine Dong
  • Function : Author
Sara Lemoinne
Mickael Tordjman
Raphel Jomaah
Olivier Chazouilleres
  • Function : Author
Lionel Arrivé
  • Function : Author

Abstract

LPAC syndrome: Genotype-phenotype association of MR features We analyzed the relationship between MRI and the genetic status of ABCB4 in 125 individuals with LPAC. MRI and genetic status were available in all 125 cases This finding strongly supports the major role of ABCB4 gene in the pathogenesis of LPAC syndrome and highlights a genotype-phenotype association. Highlights We analysed the relationship between MRI and the genetic status of ABCB4 in LPAC. MR abnormalities were found in 61 (49%) of the 125 individuals with LPAC syndrome. Forty (67%) of the 60 individuals with an ABCB4 gene variant had MR abnormalities. Twenty-one (33%) of the 65 individuals without an ABCB4 gene variant had MR abnormalities.
Fichier principal
Vignette du fichier
Biyoukar JHEP Rep 2022.pdf (1.39 Mo) Télécharger le fichier
Origin Publisher files allowed on an open archive

Dates and versions

hal-03985193 , version 1 (13-02-2023)

Identifiers

Cite

Moustafa Biyoukar, Christophe Corpechot, Sanaâ El Mouhadi, Edouard Chambenois, Quentin Vanderbecq, et al.. ABCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome. JHEP Reports Innovation in Hepatology, 2022, 4 (11), pp.100590. ⟨10.1016/j.jhepr.2022.100590⟩. ⟨hal-03985193⟩
3 View
2 Download

Altmetric

Share

Gmail Mastodon Facebook X LinkedIn More