Infantile cholestasis Alagille syndrome PFIC ■ Bleary atresia
Infantile cholestasis ◼ Alagille syndrome ◼ PFIC ◼ Biliary atresia
Alagille syndrome Description: autosomal dominant intrahepatic cholestasis syndrome absence of bile ducts associated with congenital heart disease Organs involved: liver(2 heart (1, 2) who is most affected onset of most symptoms s 1 year old(2) males and females equally Incidence/Prevalence: about 1 in 70,000 births of all races worldwide (2
Alagille syndrome ◼ Description: autosomal dominant intrahepatic cholestasis syndrome ◼ absence of bile ducts ◼ associated with congenital heart disease ◼ Organs involved: ◼ liver (2) ◼ heart(1, 2) ◼ Who is most affected: ◼ onset of most symptoms ≤ 1 year old(2) ◼ males and females equally(1) ◼ Incidence/Prevalence: ◼ about 1 in 70,000 births of all races worldwide(2)
Alagille syndrome causes autosomal dominant (1) genetic defect on short arm of chromosome 20 with incomplete penetrance varlable expression Jagged1 gene identified in 70% alagille syndrome patients which encodes a ligand for the notch receptor
Alagille syndrome ◼ Causes: ◼ autosomal dominant(1) ◼ genetic defect on short arm of chromosome 20 with incomplete penetrance, variable expression ◼ Jagged1 gene identified in 70% Alagille syndrome patients, which encodes a ligand for the notch receptor
Alagille syndrome Complications: a cirrhosis increased risk of hemorrhage based on series of 174 patients with alagille syndrome 38(22%had hemorrhagic complications 14%overall mortality due to hemorrhage 3(1.7%)deaths from intracranial bleeding case report of infant with acute intracranial hemorrhage presenting with ritability seizures vomIting
Alagille syndrome ◼ Complications: ◼ cirrhosis ◼ increased risk of hemorrhage ◼ based on series of 174 patients with Alagille syndrome ◼ 38 (22%) had hemorrhagic complications ◼ 14% overall mortality due to hemorrhage ◼ 3 (1.7%) deaths from intracranial bleeding ◼ case report of infant with acute intracranial hemorrhage presenting with ◼ irritability ◼ seizures ◼ vomiting