Advanced search
Publication Cover
Scandinavian Journal of Gastroenterology Volume 55, 2020 - Issue 8
Submit an article Journal homepage
138
Views
4
CrossRef citations to date
0
Altmetric
Original Article

Should patients with symptomatic cholelithiasis before 30 years of age be tested for ABCB4 gene mutations?

Catarina Gouveiaa Gastroenterology Department, Hospital Beatriz Ângelo, LouresCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-2144-1011View further author information
ORCID Icon,
Margarida Flor de Limab Gastroenterology Department, Hospital do Divino Espírito Santo, Ponta DelgadaView further author information
,
Flávio Pereirac Gastroenterology Department, Hospital Amato Lusitano, Castelo BrancoView further author information
,
Bruno Rosad Gastroenterology Department, Hospital da Senhora da Oliveira, Guimarães;e Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Guimarães;f ICVS/3B's, PT Government Associate Laboratory, Braga, GuimarãesView further author information
,
José Cotterd Gastroenterology Department, Hospital da Senhora da Oliveira, Guimarães;e Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Guimarães;f ICVS/3B's, PT Government Associate Laboratory, Braga, GuimarãesView further author information
,
António Banhudoc Gastroenterology Department, Hospital Amato Lusitano, Castelo BrancoView further author information
,
Maria Duarteb Gastroenterology Department, Hospital do Divino Espírito Santo, Ponta DelgadaView further author information
,
Alexandre Ferreiraa Gastroenterology Department, Hospital Beatriz Ângelo, LouresView further author information
,
Marília Cravoa Gastroenterology Department, Hospital Beatriz Ângelo, LouresView further author information
&
Joana Nunesa Gastroenterology Department, Hospital Beatriz Ângelo, LouresView further author information
 show all
Pages 958-962 | Received 18 May 2020, Accepted 27 Jun 2020, Published online: 10 Jul 2020

References

  • Lammert F, Acalovschi M, Ercolani G, et al. EASL Clinical Practice Guidelines on the prevention, diagnosis and treatment of gallstones. J Hepatol. 2016;65:146–181.
  • Goubault P, Brunel T, Rode A, et al. Low-phospholipid associated cholelithiasis (LPAC) syndrome: a synthetic review. J Visc Surg. 2019;156(4):319–328.
  • Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology. 2001;120(6):1459–1467.
  • Condat B. Le syndrome LPAC (Low Phospholipid-Associated Cholelithiasis): mythe ou réalité?. Paris: POST’U; 2016.
  • Rosmorduc O, Poupon R. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007;2:29
  • Khabou B, Trigui A, Boudawara T, et al. A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma. Clin Chim Acta. 2019;495:598–605.
  • Lincke CR, Smit JJ, van der Velde-Koerts T, et al. Structure of the human MDR3 gene and physical mapping of the human MDR locus. J Biol Chem. 1991;266(8):5303–5310.
  • Trauner M, Fickert P, Wagner M. MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. Semin Liver Dis. 2007;27(1):077–098.
  • Rosmorduc O, Hermelin B, Boelle P, et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterol. 2003;125(2):452–459.
  • Stapelbroek J, Erpecum K, Klomp L, et al. Liver disease associated with canalicular transport defects: current and future therapies . J Hepatol. 2010;52(2):258–271.
  • Nakken K, Labori K, Rødningen O, et al. ABCB4 sequence variations in young adults with cholesterol gallstone disease. Liver Int. 2009;29(5):743–747.
  • Condat B, Zanditenas D, Barbu V, et al. Prevalence of low phospholipid-associated cholelithiasis in young female patients. Dig Liver Dis. 2013;45(11):915–919.
  • Poupon R, Rosmorduc O, Boelle P, et al. Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients. Hepatology. 2013;58(3):1105–1110.
  • Jirsa M, Bronský J, Dvořáková L, et al. ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones. World J Gastroenterol. 2014;20(19):5867–5874.
  • Derhy S, Benzimra J, Rosmorduc O, et al. LPAC syndrome (low phospholipid-associated cholelithiasis): spectrum of imaging features. European Society of Radiology Educational Exhibit; 2013.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.