Biliary Atresia Study in Infants and Children

Little is known about the factors that cause biliary atresia nor the factors that influence disease progression. The purpose of this study is to collect the pertinent clinical information, genetic material and body fluid samples to enable investigators to address the following aims: To identify the gene or genes implicated in the etiology of BA; To characterize the natural history of the older, non-transplanted child with BA.

Little is known about the factors that cause biliary atresia nor the factors that influence disease progression. A variety of genetic, autoimmune and environmental influences have been hypothesized to be important. Most studies to date have focused on the neonate and young child with BA, yet the older surviving child with BA can provide important information about genetics, as well as, natural history. The purpose of this study is to collect the pertinent clinical information, genetic material and body fluid samples to enable investigators to address the following hypotheses: Hypothesis 1: A genetic defect is a likely causative factor for BA among children with BA and multiple congenital anomalies. Hypothesis 2a: Sentinel events such as variceal bleeding, ascites and growth failure are earlier predictors of death or need for liver transplantation than the pediatric end-stage liver disease score (PELD). Hypothesis 2b: Health related quality of life will be impaired compared to healthy age matched children and relate to severity of illness. Hypothesis 2c: Growth failure as measured by anthropometrics and nutritional supplementation will be predictive of onset of sentinel events (ascites, variceal bleed, death, and transplant) in the following 24 months. This study will be performed by the Childhood Liver Disease Research Network (ChiLDReN), a National Institute of Diabetes \& Digestive and Kidney Diseases (NIDDK) funded network.