Progressive familial intrahepatic cholestasis.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ) is a heterogeneous group of autosomal recessive childhood cholestasis of hepatocellular origin . PFIC 1 , also known as Byler disease , was first described in Amish kindred . It is characterized by cholestasis often arising in the neonatal period and it leads to death due to liver failure . PFIC 1 , like Benign Recurrent Intrahepatic Cholestasis (BRIC ) which is the benign form of the same disease , recognizes mutations in the ATP 8 B 1 gene . PFIC 2 disease is clinically similar to PFIC 1 but it has a different gene mutation causing a defect in the Bile Salt Export Pump (BSEP ), exclusively expressed in the liver and involved in the canalicular secretion of bile acids . PFIC 3 usually appears later in life and it has a higher risk of portal hypertension , gastrointestinal bleeding and liver failure . This particular form of disease (the only one with high serum values of g-glutamil transpeptidase ), is associated to a genetic defect in the class III multidrug resistance protein (MDR ). External biliary diversion and ursodeoxycholic acid therapy , should be considered as the initial therapy in these patients , even if liver transplantation still seems to be the only solution for most patients .

Diseases
Validation

Diseases presenting "neonatal period" symptom

alexander disease

alpha-thalassemia

benign recurrent intrahepatic cholestasis

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cutaneous mastocytosis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

pyruvate dehydrogenase deficiency

zellweger syndrome

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