en POLSKI
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

4/2017
vol. 92
 
Share:
Send email
Share:
abstract:
Case report

Congenital hepatic fibrosis associated with Gilbert's syndrome and cholelithiasis in a pediatric patient – The crucial role of liver biopsy in diagnostic process

Patryk Lipiński
,
Joanna Cielecka-Kuszyk
,
Joanna Pawłowska
,
Dorota Wicher
,
Irena Jankowska

PEDIATRIA POLSKA 92 (2017) 446-449
Online publish date: 2018/03/07
View full text Get citation
 
Congenital hepatic fibrosis constitutes a ductal plate malformation of the small interlobular bile ducts resulting in progressive fibrosis of the liver. Isolated form of the disease is rare, most commonly is accompanied by other entities comprising the group of fibropolycystic diseases. Clinical presentation of congenital hepatic fibrosis is variable and nonspecific, making the initial diagnosis difficult. Besides of its invasiveness, the liver biopsy is still considered as a gold standard in diagnostic process. We report an undescribed so far coexistence of biopsy proven congenital hepatic fibrosis with cholelithiasis and Gilbert's syndrome in a pediatric patient.
keywords:

Cholelithiasis, Ductal plate malformation, UGT1A gene, Ciliopaties