Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver.
Hilar fibropolycystic liver disease
ductal plate malformation
explant pathology
liver transplantation
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
08
07
2020
accepted:
13
08
2020
entrez:
30
6
2022
pubmed:
28
9
2020
medline:
28
9
2020
Statut:
epublish
Résumé
Fibropolycystic diseases of the liver comprise a spectrum of disorders affecting bile ducts of various sizes and arise due to an underlying ductal plate malformation (DPM). We encountered a previously unreported variant of DPM, the hilar fibropolycystic disease which we diagnosed in the explant liver. A 2-year-old boy was referred for liver transplantation with a diagnosis of biliary atresia (BA) and failed Kasai portoenterostomy (KPE). He had cirrhosis with portal hypertension along with synthetic failure indicated by coagulopathy and hypoalbuminemia. The child underwent liver transplant successfully. The explant liver had fibropolycystic disease confined to the perihilar liver and hilum. No pathogenic mutation was detected by whole exome sequencing. Fibropolycystic liver disease may represent a peculiar anatomical variant, which can be diagnosed by careful pathological examination of the explant liver. The neonatal presentation of hilar fibropolycystic liver disease can be misdiagnosed as BA.
Identifiants
pubmed: 35769965
doi: 10.1055/s-0040-1716829
pii: 2000110
pmc: PMC9236736
doi:
Types de publication
Case Reports
Langues
eng
Pagination
165-170Commentaires et corrections
Type : ErratumIn
Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
Références
Future Sci OA. 2020 Mar 17;6(5):FSO466
pubmed: 32518681
Orphanet J Rare Dis. 2014 May 01;9:69
pubmed: 24886261
J Pediatr Gastroenterol Nutr. 2007 Jan;44(1):104-7
pubmed: 17204962
Indian J Pathol Microbiol. 2017 Oct-Dec;60(4):487-500
pubmed: 29323060
Pediatr Radiol. 2009 Apr;39(4):317-27; quiz 420-1
pubmed: 19083218
Eur J Gastroenterol Hepatol. 2014 Nov;26(11):1300-5
pubmed: 25171020
Curr Probl Diagn Radiol. 2020 Jul - Aug;49(4):285-293
pubmed: 31027922
Am J Clin Pathol. 2020 Jan 1;153(1):119-125
pubmed: 31584623
J Pediatr Gastroenterol Nutr. 2010 Sep;51(3):319-21
pubmed: 20601899
Hepatol Res. 2006 Jun;35(2):147-50
pubmed: 16531111
Arch Dis Child Fetal Neonatal Ed. 1997 Sep;77(2):F145-6
pubmed: 9377141
Nat Clin Pract Nephrol. 2006 Jan;2(1):40-55; quiz 55
pubmed: 16932388
Eur J Gastroenterol Hepatol. 2011 Jul;23(7):578-85
pubmed: 21543986
Pediatr Transplant. 2012 Mar;16(2):195-200
pubmed: 22360404