Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
(2000) In Virchows Archiv 437(1). p.101-105- Abstract
Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate configuration. Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. The clinical symptoms were recurrent attacks of persistent vomiting with diarrhea and mild hepatomegaly. The biochemical abnormalities included elevated serum transferases during attacks, clotting factor deficiencies and persistent hypoalbuminemia. In the youngest patient protein-losing enteropathy was present. Liver biopsies of the three patients taken when they were 1, 3 and 14 years old showed an excess of bile duct... (More)
Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate configuration. Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. The clinical symptoms were recurrent attacks of persistent vomiting with diarrhea and mild hepatomegaly. The biochemical abnormalities included elevated serum transferases during attacks, clotting factor deficiencies and persistent hypoalbuminemia. In the youngest patient protein-losing enteropathy was present. Liver biopsies of the three patients taken when they were 1, 3 and 14 years old showed an excess of bile duct structures in ductal plate configuration with mild fibrosis in the portal triads. In one patient the liver biopsy was repeated after 18 years and showed only a mild progression of fibrosis in the portal triads. Duodenal biopsies taken in infancy in two of the three patients did not show any abnormalities. Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, because some of the clinical symptoms are potentially treatable by oral mannose therapy.
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- author
- De Koning, T. J. LU ; Nikkels, P. G.J. ; Dorland, L. ; Bekhof, J. ; De Schrijver, J. E.A.R. ; Van Hattum, J. ; Van Diggelen, O. P. ; Duran, M. ; Berger, R. and Poll-The, B. T.
- publishing date
- 2000-01-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- CDG syndrome, Congenital hepatic fibrosis, Phosphomannose isomerase deficiency
- in
- Virchows Archiv
- volume
- 437
- issue
- 1
- pages
- 5 pages
- publisher
- Springer
- external identifiers
-
- scopus:0033917838
- pmid:10963387
- ISSN
- 0945-6317
- DOI
- 10.1007/s004280000185
- language
- English
- LU publication?
- no
- id
- 33a7cb7a-2895-450a-bc99-6996f46522a3
- date added to LUP
- 2020-03-03 19:14:26
- date last changed
- 2024-04-03 04:12:21
@article{33a7cb7a-2895-450a-bc99-6996f46522a3,
abstract = {{<p>Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate configuration. Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. The clinical symptoms were recurrent attacks of persistent vomiting with diarrhea and mild hepatomegaly. The biochemical abnormalities included elevated serum transferases during attacks, clotting factor deficiencies and persistent hypoalbuminemia. In the youngest patient protein-losing enteropathy was present. Liver biopsies of the three patients taken when they were 1, 3 and 14 years old showed an excess of bile duct structures in ductal plate configuration with mild fibrosis in the portal triads. In one patient the liver biopsy was repeated after 18 years and showed only a mild progression of fibrosis in the portal triads. Duodenal biopsies taken in infancy in two of the three patients did not show any abnormalities. Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, because some of the clinical symptoms are potentially treatable by oral mannose therapy.</p>}},
author = {{De Koning, T. J. and Nikkels, P. G.J. and Dorland, L. and Bekhof, J. and De Schrijver, J. E.A.R. and Van Hattum, J. and Van Diggelen, O. P. and Duran, M. and Berger, R. and Poll-The, B. T.}},
issn = {{0945-6317}},
keywords = {{CDG syndrome; Congenital hepatic fibrosis; Phosphomannose isomerase deficiency}},
language = {{eng}},
month = {{01}},
number = {{1}},
pages = {{101--105}},
publisher = {{Springer}},
series = {{Virchows Archiv}},
title = {{Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency}},
url = {{http://dx.doi.org/10.1007/s004280000185}},
doi = {{10.1007/s004280000185}},
volume = {{437}},
year = {{2000}},
}