Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy

Recent advances in genetics and in physiopathology of bile composition and excretion have clarified the understanding of progressive familial intrahepatic cholestasis (PFIC). The aim of the present study is to review the experience of our center in terms of diagnosis, management and outcome of 49 pe...

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Published inActa gastro-enterologica belgica Vol. 67; no. 4; p. 313
Main Authors Wanty, C, Joomye, R, Van Hoorebeek, N, Paul, K, Otte, J B, Reding, R, Sokal, E M
Format Journal Article
LanguageEnglish
Published Belgium 01.10.2004
Subjects
Bile Acids and Salts - metabolism
Child, Preschool
Cholagogues and Choleretics - therapeutic use
Cholestasis, Intrahepatic - diagnosis
Cholestasis, Intrahepatic - drug therapy
Cholestasis, Intrahepatic - metabolism
Cholestasis, Intrahepatic - mortality
Cholestasis, Intrahepatic - surgery
Cholestasis, Intrahepatic - therapy
Disease Progression
Female
gamma-Glutamyltransferase - metabolism
Humans
Infant
Infant, Newborn
Liver - metabolism
Liver - pathology
Liver Transplantation
Male
Retrospective Studies
Treatment Outcome
Ursodeoxycholic Acid - therapeutic use
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Summary:Recent advances in genetics and in physiopathology of bile composition and excretion have clarified the understanding of progressive familial intrahepatic cholestasis (PFIC). The aim of the present study is to review the experience of our center in terms of diagnosis, management and outcome of 49 pediatric PFIC patients, belonging to the three classical subtypes described. We analyse the clinical, biological, and histological patterns and review the response to the medical and surgical treatment and the global outcome. The only clinical difference between the different subtypes of PFIC patients was the intensity of pruritus. Serum gamma-glutamyltransferase (GGT) and liver histology allowed to differentiate PFIC III from PFIC I and II patients. High levels of biliary bile acids in 2 low-GGT patients was associated with favourable outcome. Response to ursodeoxycholic acid (UDCA) varies from patient to patient and was not associated to a particular subtype of PFIC. In five patients of this cohort, external biliary diversion was performed without improvement. Transplantation is indicated whenever medical treatment fails to restore normal social life, growth and well being of the child and it is associated with excellent survival (> 90%).
ISSN:1784-3227