Chapter 4 - Hepatitis and cholestasis in infancy: intrahepatic disorders

Abstract

This chapter discusses the clinical, pathological and laboratory features; management and diagnosis; and endocrine disorders associated with hepatitis syndromes. Hepatitis syndrome of infancy is characterized by clinical and laboratory features of liver dysfunction, particularly conjugated hyperbilirubinemia. The term hepatitis indicates inflammation of the liver. The vast majority of patients present with jaundice usually continuous with physiological jaundice, but a small number present at between 5 and 8 weeks of life and some even later in infancy. Because of the high urinary output in infants, the urine is always yellow—never dark brown as it would be in adults with conjugated hyperbilirubinaemia nor colorless as it is frequently in the healthy infant or in the infant with an unconjugated hyperbilirubinemia. Standard biochemical tests of liver function are of value in following progression of disease and assessing its severity. Serum aspartate aminotransferase, alkaline phosphatase, and usually gamma-glutamyl transpeptidase are elevated to values between 1.5 and six times normal. Serum albumin is usually in the normal range at presentation but may be low if liver disease is severe or if there is marked fluid retention. The prothrombin time may be prolonged and usually corrects to normal with intravenous vitamin K unless acute failure is present. Serum lipids and cholesterol are normal in the first 4 months of life but they increase thereafter, particularly in patients with bile duct hypoplasia syndromes. Hypoglycemia suggests a metabolic or endocrine disorder.