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Titolo:
Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
Autore:
de Koning, TJ; Nikkels, PGJ; Dorland, L; Bekhof, J; De Schrijver, JEAR; van Hattum, J; van Diggelen, OP; Duran, M; Barger, R; Poll-The, BT;
Indirizzi:
Univ Childrens Hosp Het Wilhelmina Kinderziekenhu, Dept Metab Dis, NL-3508AB Utrecht, Netherlands Univ Childrens Hosp Het Wilhelmina Kinderziekenhu Utrecht Netherlands NL-3508 AB Univ Childrens Hosp Het Wilhelmina Kinderziekenhu, Dept Gastroenterol, NL-3508 AB Utrecht, Netherlands Univ Childrens Hosp Het Wilhelmina Kinderziekenhu Utrecht Netherlands NL-3508 AB Univ Utrecht Hosp, Dept Pathol, Utrecht, Netherlands Univ Utrecht Hosp Utrecht Netherlands Dept Pathol, Utrecht, Netherlands Univ Utrecht Hosp, Dept Gastroenterol, Utrecht, Netherlands Univ Utrecht Hosp Utrecht Netherlands stroenterol, Utrecht, Netherlands Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands
Titolo Testata:
VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
fascicolo: 1, volume: 437, anno: 2000,
pagine: 101 - 105
SICI:
0945-6317(200007)437:1<101:CHFI3S>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
BILE-DUCT DEVELOPMENT; GLYCOPROTEIN-SYNDROME; CARBOHYDRATE; EXPRESSION; GLYCOSYLATION; CHILDREN; LIVER;
Keywords:
congenital hepatic fibrosis; CDG syndrome; phosphomannose isomerase deficiency;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: de Koning, TJ Univ Childrens Hosp Het Wilhelmina Kinderziekenhu, Dept Metab Dis, C 03-063-0,POB 85090, NL-3508 AB Utrecht, Netherlands Univ ChildrensHosp Het Wilhelmina Kinderziekenhu C 03-063-0,POB 85090 Utrecht Netherlands NL-3508 AB
Citazione:
T.J. de Koning et al., "Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency", VIRCHOWS AR, 437(1), 2000, pp. 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 structures in ductal plate configuration with mild fibrosis in the portal triads. In one patient the liver biopsy was repeated after 18 years and showedonly 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 withcongenital 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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Documento generato il 30/10/20 alle ore 09:05:25