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There have been great strides in using positional cloning to successfully identify the underlying basis of many Mendelian disorders of children. The severity of even these disorders, however, is greatly affected by genetic modifiers and gene- environment interactions. The molecular pathogenesis of many more complex disorders remains unexplained due to the often complex genetic, epigenetic and environmental interactions involved in their etiology. However, there is reason for optimism. New genomic technologies – single nucleotide polymorphism (SNP) and copy number variant (CNV) arrays, comparative genomic hybridization (CGH) arrays, and next generation sequencing – increasingly allow genome-wide analyses at a reasonable. | ARTICLE Evaluation of Liver Disease in the Pediatric Patient Ian D. D Agata MD and William F. Balistreri MDf OBJECTIVES After completing this article readers should be able to 1. List the age-specific causes of liver disease in neonates infants older children and adolescents. 2. Explain why fractionation of serum bilirubin is necessary in infants who remain jaundiced after 2 weeks of age. 3. Characterize the syndrome of neonatal hepatitis and explain how it differs from viral hepatitis. 4. Characterize biliary atresia and identify findings from the history physical examination and laboratory evaluation that may suggest this diagnosis. 5. Describe a quick cost-effective diagnostic approach to a neonate who presents with cholestasis. Introduction Because clinicians often do not recognize the presence of underlying liver disease precise documentation of the disorder can be delayed which can lead to a subsequent delay in the initiation of effective therapies. Liver transplantation is a reality for pediatric patients who have severe or end-stage liver disease and other therapies also are now available for treating many liver diseases. The estimated incidence of neonatal liver disease is as high as 1 in 2 500 live births. Early recognition is particularly important in neonates and infants because a delay in diagnosis may have a negative effect on the prognosis. For example it is well recognized that when biliary atresia is diagnosed after 2 months of age the success rate of surgical repair Kasai hepatoportoenteros-tomy declines sharply. Furthermore because liver dysfunction is progressive early recognition allows for better nutritional support of the patient and a potentially slower decline in liver function. The result can be improved growth and fewer complications. This is of considerable importance because orthotopic liver transplantation generally is Pediatric Gastroenterology Liver Diseases Valley Children s Hospital Madera CA. Chief Division of Gastroenterology .
