Biliary Atresia

Basics

DESCRIPTION

Biliary atresia (BA) is a congenital disease characterized by fibrosis, obstruction, and obliteration of the biliary system that is universally fatal without intervention.

EPIDEMIOLOGY

BA accounts for approximately 30% of cases of neonatal cholestasis.
BA is the most common cause of persistent cholestasis in infants and children and the most frequent indication for pediatric liver transplantation.
The disease affects 1:8,000 to 1:18,000 live births.

RISK-FACTORS

GENETICS

No single genetic mutation has been identified as the sole cause of BA, and there is no clear pattern of inheritance.
Genes influencing morphogenesis may contribute to pathophysiology.

PATHOPHYSIOLOGY

Biliary obstruction begins at, or near, the time of birth and progresses throughout early infancy, leading to damage and ultimately scarring of liver parenchyma.
Approximately 20% of biliary patients have at least one other major congenital anomaly (i.e., embryonal form) including splenic malformation, interrupted inferior vena cava, midline liver, situs inversus, preduodenal portal vein, and intestinal malrotation.
More common form is the perinatal form that is not associated with malformations.

ETIOLOGY

Etiology is not completely defined, but many different pathogenic mechanisms have been proposed, including the following:

Perinatal infection of the liver and biliary tract with potential organisms including cytomegalovirus, rotavirus, and reovirus
Immune dysregulation
Defective morphogenesis
Environmental toxin exposure
Vascular insufficiency

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