[Progressive familial intrahepatic cholestasis (Byler disease): current genetics and therapy]. / Die Progressive Familiäre Intrahepatische Cholestase (Morbus Byler): Aktuelles zu Genetik und Therapie.
Klin Padiatr
; 212(2): 64-70, 2000.
Article
de De
| MEDLINE
| ID: mdl-10812555
ABSTRACT
Progressive familial intrahepatic cholestasis (PFIC) is a congenital liver disease. First symptoms can frequently be seen shortly after birth. Quality and expectation of life are substantially reduced due to severe pruritus and the complications of progressive liver cirrhosis. PFIC is diagnosed on the basis of characteristic clinical and laboratory parameters and genetic analysis after exclusion of other liver diseases leading to intrahepatic cholestasis. Medical therapy is only effective in a proportion of children with PFIC. Partial biliary diversion (PBD) is nowadays considered the therapy of choice in patients with therapy-refractive pruritus. If performed in time, damage to the liver can be delayed or arrested, thus orthotopic liver transplantation (OLT) can be postponed or even avoided in at least some patients with PFIC. Besides providing a current overview of PFIC, we report on three patients who were successfully treated surgically. One patient was subjected to a new technique of PBD (cholecysto-appendicostomy), the other two had OLT.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Cholestase intrahépatique
Type d'étude:
Etiology_studies
Limites:
Female
/
Humans
/
Infant
/
Male
/
Newborn
Langue:
De
Journal:
Klin Padiatr
Année:
2000
Type de document:
Article