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DOI: 10.1055/s-0040-1716829
Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver
Funding None.![](https://www.thieme-connect.de/media/10.1055-s-00029027/202202/lookinside/thumbnails/10-1055-s-0040-1716829_2000110-1.jpg)
Abstract
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.
Keywords
liver transplantation - explant pathology - Hilar fibropolycystic liver disease - ductal plate malformationAuthors' Contributions
J.M. and N.S. collected the clinical data and compiled the manuscript. M.V. reported histopathological analysis and reporting. A.H., M.S.R., and I.K. did the proofreading. Mohamed Rela participated in critical revision and final approval of the draft to publish. M.R. participated in critical revision and final approval of the draft to publish.
Publication History
Received: 08 July 2020
Accepted: 13 August 2020
Article published online:
28 September 2020
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References
- 1 Veigel MC, Prescott-Focht J, Rodriguez MG. et al. Fibropolycystic liver disease in children. Pediatr Radiol 2009; 39 (04) 317-327 , quiz 420–421
- 2 Ko JS, Yi NJ, Suh KS, Seo JK. Pediatric liver transplantation for fibropolycystic liver disease. Pediatr Transplant 2012; 16 (02) 195-200
- 3 Keane F, Hadzić N, Wilkinson ML. et al. Neonatal presentation of Caroli's disease. Arch Dis Child Fetal Neonatal Ed 1997; 77 (02) F145-F146
- 4 Lefere M, Thijs M, De Hertogh G. et al. Caroli disease: review of eight cases with emphasis on magnetic resonance imaging features. Eur J Gastroenterol Hepatol 2011; 23 (07) 578-585
- 5 Hadžić N, Strazzabosco M. Fibropolycystic liver diseases and congenital biliary abnormalities. In: Dooley JS, Lok ASF, Garcia-Tsao G, Pinzani M. eds. Sherlock's Diseases of the Liver and Biliary System. Chichester, UK: Wiley; 2018: 308-327
- 6 Cannella R, Giambelluca D, Diamarco M. et al. Congenital cystic lesions of the bile ducts: imaging-based diagnosis. Curr Probl Diagn Radiol 2020; 49 (04) 285-293
- 7 Quaglia A, Roberts EA, Torbenson M. Developmental and inherited liver disease. In: Burt AD, Hubsher S, Ferrell L. eds. MacSween's Pathology of the Liver. 2017: 113-187
- 8 Giouleme O, Nikolaidis N, Tziomalos K. et al. Ductal plate malformation and congenital hepatic fibrosis clinical and histological findings in four patients. Hepatol Res 2006; 35 (02) 147-150
- 9 Das P, Sharma P, Nakra T. et al. Spectrum of hepatobiliary cystic lesions: a 7-year experience at a tertiary care referral center in North India and review of literature. Indian J Pathol Microbiol 2017; 60 (04) 487-500
- 10 Alsomali MI, Yearsley MM, Levin DM, Chen W. Diagnosis of congenital hepatic fibrosis in adulthood. Am J Clin Pathol 2020; 153 (01) 119-125
- 11 Cnossen WR, Drenth JP. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis 2014; 9: 69
- 12 Torres VE, Harris PC. Mechanisms of disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol 2006; 2 (01) 40-55 , quiz 55
- 13 Vij M, Rela M. Biliary atresia: pathology, etiology and pathogenesis. Future Sci OA 2020; 6 (05) FSO466
- 14 Tainaka T, Kaneko K, Seo T, Ono Y, Sumida W, Ando H. Intrahepatic cystic lesions after hepatic portoenterostomy for biliary atresia with bile lake and dilated bile ducts. J Pediatr Gastroenterol Nutr 2007; 44 (01) 104-107
- 15 Sira MM, Taha M, Sira AM. Common misdiagnoses of biliary atresia. Eur J Gastroenterol Hepatol 2014; 26 (11) 1300-1305
- 16 Kaye AJ, Rand EB, Munoz PS, Spinner NB, Flake AW, Kamath BM. Effect of Kasai procedure on hepatic outcome in Alagille syndrome. J Pediatr Gastroenterol Nutr 2010; 51 (03) 319-321