Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

Autor: Ruud Berger, J. E. A. R. De Schrijver, J. van Hattum, P. G. J. Nikkels, O. P. van Diggelen, B. T. Poll-The, T. J. de Koning, Marinus Duran, Lambertus Dorland, J. Bekhof
Přispěvatelé: Immunology, Clinical Genetics, Other departments
Rok vydání: 2000
Předmět:
Zdroj: Virchows Archiv. An International Journal of Pathology, 437, 101-105. Springer-Verlag
Virchows Archiv, 437(1), 101-105. Springer Verlag
ISSN: 1432-2307
0945-6317
DOI: 10.1007/s004280000185
Popis: 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.
Databáze: OpenAIRE
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