Die Progressive Familiäre Intrahepatische Cholestase (Morbus Byler): Aktuelles zu Genetik und Therapie

Zusammenfassung:

Die Progressive Familiäre Intrahepatische Cholestase (PFIC) ist eine angeborene Lebererkrankung, die sich häufig schon im Säuglingsalter manifestiert. Lebensqualität und Lebenserwartung sind auf Grund des ausgeprägten Pruritus und in weiterer Folge wegen der fortschreitenden Leberzirrhose stark eingeschränkt. Nach Ausschluss anderer Lebererkrankungen, die zur intrahepatischen Cholestase führen, kann anhand der typischen Klinik, der Konstellation der Laborparameter und einer Genanalyse die Diagnose PFIC gestellt werden.

Nur ein Teil der Patienten spricht auf medikamentöse Therapie an. Als Methode der Wahl bei therapierefraktärem Pruritus gilt heute zunächst die partielle biliäre Diversion (PBD). Durch eine rechtzeitig durchgeführte PBD kann der Leberschaden verzögert oder aufgehalten werden. Bei einem Teil dieser Patienten kann dadurch eine orthotope Lebertransplantation (OLT) zumindest hinausgezögert, vielleicht vermieden werden.

Neben einem aktuellen Überblick über das Krankheitsbild wird in dieser Arbeit über 3 Patienten mit PFIC berichtet, die erfolgreich chirurgisch behandelt wurden. Ein Patient erhielt eine neue Variante der PBD (Cholezystoappendicostomie), in den anderen beiden Fällen wurde eine OLT durchgeführt.

Abkürzungen:

PFIC Progressive Familiäre Intrahepatische Cholestase

PBD Partielle biliäre Diversionsoperation

BSEP Bile salt export pump

GGT Gamma Glutamyl Transferase

UDCA Ursodeoxycholsäure

NNH Neonatale Hepatitis

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 (cholecystoappendicostomy), the other two had OLT.

Schlüsselwörter:

PFIC - Progressive Familiäre Intrahepatische Cholestase - Morbus Byler - Partielle biliäre Diversionsoperation - Cholezystoappendicostomie - Lebertransplantation

Key words:

PFIC - progressive familial intrahepatic cholestasis - Byler disease - partial biliary diversion - liver transplantation

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