Nilüfer ARDA, Fulya DEMİRÇEKEN, Şit UÇAR, Pelin ZORLU

Progresif Familyal İntrahepatik Kolestaz Tip 3

Progresif familyal intrahepatik kolestaz, biliyer siroz ve kolestaz ile karakterize bir grup hastalıktır. Süt çocuğu döneminde başlar ve yaşamın ilk on yılında siroza ilerler. Klinik bulgular, laboratuvar incelemeleri ve morfolojik çalışmalarla diğer çocukluk çağı kolestatik karaciğer hastalıklardan ayrılmıştır. Son moleküler ve genetik çalışmalarla üç tipi için sorumlu genler tanımlanmıştır. Tip 3, yaşamın ilk aylarında görülen ve sonra biliyer siroza ilerleyen tekrarlayan kaşıntı ve/veya sarılık atakları ve artmış serum gama-glutamil transferaz ile karakterizedir. Karaciğer nakli bu hastalıkta tam tedavi sağlamaktadır. Ursodeoksikolik asit ve parsiyel eksternal biliyer diversiyon karaciğer nakline alternatif tedaviler olarak sunulmaktadır. Bu yazıda, sarılık nedeniyle hastanemize başvuran, progresif familyal intrahepatik kolestaz tip 3 tanısı alan ve ursodeoksikolik asit ile tedavi edilen iki aylık erkek hasta sunuldu.

Anahtar Kelimeler:

Çocukluk çağı, familyal intrahepatik kolestaz, GGT, PFIC

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

Progressive familial intrahepatic cholestasis is a group of diseases characterised by biliary cirrhosis and cholestasis. This disease begins in infancy and usually progresses to cirrhosis within the first decade of life. It has been distinguished from other forms of cholestatic liver diseases in childhood by clinical findings, laboratory observations, and morphologic studies. Recent molecular and genetic studies have identified the genes responsible for the three types. Type 3 is characterised by recurrent pruritus or jaundice and/or high serum gamma-glutamyl transferase levels. Liver transplantation is a curative modality of treatment in this disease. Ursodeoxycholic acid and partial external biliary diversion may represent alternatives to liver transplantation. In this paper, we presented a 2-month-old male patient who admitted to our hospital because of jaundice, diagnosed as progressive familial intrahepatic cholestasis type 3, and treated with ursodeoxycholic acid

Keywords:

Childhood, familial intrahepatic cholestasis, GGT, PFIC,

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