Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver
| Autor: | Abdul R. Hakeem, Ilankumaran Kaliamoorthy, Mohamed Rela, Jagadeesh Menon, Mettu Srinivas Reddy, Mukul Vij, Naresh Shanmugam |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty Cirrhosis business.industry medicine.medical_treatment Hilum (biology) Liver transplantation medicine.disease Ductal Plate Malformation 03 medical and health sciences Liver disease 0302 clinical medicine Biliary atresia 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health medicine Portal hypertension 030211 gastroenterology & hepatology Hypoalbuminemia business Genetics (clinical) |
| Zdroj: | J Pediatr Genet |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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