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Evidence of liver disease in children may take different forms. Physical findings are the most obvious and include jaundice, hepatomegaly (with or without splenomegaly), and ascites. More subtle physical findings in chronic liver disease include prominent abdominal vessels that extend from the upper abdomen to the chest and hemorrhoids seen with portal hypertension, palmar erythema (eFig. 419.1), spider nevi (eFig. 419.2) digital clubbing, isolated splenomegaly and excoriations of the skin due to pruritus. An evaluation and management of nutritional deficiencies due to liver disease, pruritus, variceal bleeding and ascites are further discussed in Chapter 425.

eFigure 419.1.

Palmar erythema in a patient with liver disease, showing the characteristic blotchy redness.

(From Wolff K, Goldsmith LA, Katz SI, et al (eds). Fitzpatrick's Dermatology in General Medicine. 7th ed. New York: McGraw-Hill, 2008.)

eFigure 419.2.

Spider nevi in a patient with cirrhosis.

(From Wolff K, Goldsmith LA, Katz SI, et al (eds). Fitzpatrick's Dermatology in General Medicine. 7th ed. New York: McGraw-Hill, 2008.)

Laboratory studies may help confirm the presence of liver injury in the absence of other obvious clinical findings. Thus, “screening” laboratories in patients with non-specific symptoms may reveal elevations in liver-related enzymes, or liver functions in the absence of clinically apparent liver disease, being the only sign of liver injury.

The evaluation of the various presentations of liver disease depends upon the specific abnormalities identified and the severity of illness. Patient age must also be considered because the likelihood of various disorders varies with age. This chapter first reviews the diagnostic tests utilized for evaluation of the infant and child with liver disease, then discusses the approach to diagnosis of infants and children with various presentations of liver disease. The management of chronic liver disease is further discussed in Chapter 425. Details of the diagnostic approach for various liver infections are discussed in Chapters 247 and 308; and for liver tumors in Chapter 427.

Although commonly referred to as “liver function tests,” the majority of serum tests measure the enzymes that are produced within the hepatocytes or biliary system but are not measures of physiologic function. The serum levels of these enzymes that include a serum aspartate aminotransferase (AST, SGOT), alanine aminotransferase (ALT, SGPT), gammaglutamyl transpeptidase (GGT), serum alkaline phosphatase (SAP), and a fractionated bilirubin are nonspecific and can be increased in numerous different pathologic processes.1 However, elevation of these tests requires an evaluation for hepatocellular or bile duct injury. As described below, other common laboratory tests are more useful for the evaluation of “liver function,” including measures of serum albumin, ammonia, bile acids, and coagulation studies.

Serum Aminotransferase

Serum aminotransferase elevation is usually caused by hepatocellular injury owing to inflammation, ...

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