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Portal Hypertension and Varices

Portal hypertension, defined as an elevation of portal pressure >10-12 mm Hg or a hepatic venous pressure gradient >4 mm Hg, is a major cause of morbidity and mortality in children with liver disease. Portal hypertension occurs when there is increased portal resistance or increased blood flow through the portal system. When portal hypertension occurs, children can develop varices, splenomegaly, ascites, and gastrointestinal bleeding. Etiology Portal hypertension can…

Diseases of the Gallbladder

The incidence of gallbladder disease, particularly cholelithiasis and biliary dyskinesia, has been increasing in children, and has been associated with a rise in the number of cholecystectomies. Anomalies The gallbladder is congenitally absent in approximately 0.1% of the population. Hypoplasia or absence of the gallbladder can be associated with extrahepatic biliary atresia or cystic fibrosis. Duplication of the gallbladder occurs rarely. Gallbladder ectopia may occur with…

Cystic Diseases of the Biliary Tract and Liver

Cystic lesions of liver may be initially recognized during infancy and childhood. Hepatic fibrosis can also occur as part of an associated developmental defect ( Table 392.1 ). Cystic renal disease is usually associated and often determines the clinical presentation and prognosis. Virtually all proteins encoded by genes mutated in combined cystic diseases of the liver and kidney are at least partially localized to primary cilia…

Acute Hepatic Failure

Acute liver failure is a clinical syndrome resulting from massive necrosis of hepatocytes or from severe functional impairment of hepatocytes. The synthetic, excretory, and detoxifying functions of the liver are all severely impaired. In adults, hepatic encephalopathy has been an essential diagnostic feature. However, in pediatrics, this narrow definition may be problematic, as early hepatic encephalopathy can be difficult to detect in infants and children, and…

Drug- and Toxin-Induced Liver Injury

The liver is the main site of drug metabolism and is particularly susceptible to structural and functional injury after the ingestion, parenteral administration, or inhalation of chemical agents, drugs, plant derivatives (home remedies), herbal or nutritional supplements, or environmental toxins. The possibility of drug use or toxin exposure at home or in the parents’ workplace should be explored for every child with liver dysfunction. The clinical…

Autoimmune Hepatitis

Autoimmune Hepatitis Chronic Liver Disease Autoimmune hepatitis is a chronic hepatic inflammatory process manifested by elevated serum aminotransaminase concentrations, liver-associated serum autoantibodies, and/or hypergammaglobulinemia. The serological autoantibody profile defines 2 main types of autoimmune hepatitis: AIH type 1, with positivity for anti-nuclear antibodies (ANA) and/or anti–smooth muscle antibody (SMA) and AIH type 2, with positivity for anti–liver kidney microsomal type 1 antibody (anti-LKM-1). The targets of…

Mitochondrial Hepatopathies

A wide variety of mitochondrial disorders are associated with liver disease. Hepatocytes contain a high density of mitochondria because the liver, with its biosynthetic and detoxifying functions, is highly dependent on adenosine triphosphate. Defects in mitochondrial function can lead to impaired oxidative phosphorylation, increased generation of reactive oxygen species, impairment of other metabolic pathways, and activation of mechanisms of cellular death. Mitochondrial disorders can be divided…

Liver Disease Associated With Systemic Disorders

Liver disease is found in a wide variety of systemic illnesses, both as a result of the primary pathologic process and as a secondary complication of the disease or associated therapy. Inflammatory Bowel Disease Ulcerative colitis and Crohn disease ( Chapter 362 ) are associated with hepatobiliary disease that includes autoimmune and inflammatory processes related to inflammatory bowel disease (IBD) (sclerosing cholangitis, autoimmune hepatitis [AIH]), drug…

Viral Hepatitis

Viral hepatitis continues to be a major health problem in both developing and developed countries; there has been significant progress in efforts to recognize and to treat infected subjects. This disorder is caused by the 5 pathogenic hepatotropic viruses recognized to date: hepatitides A (HAV), B (HBV), C (HCV), D (HDV), and E (HEV) viruses ( Table 385.1 ). Many other viruses (and diseases) can cause…

Metabolic Diseases of the Liver

Metabolic liver diseases in children, although individually rare, altogether represent a significant cause of morbidity and mortality. This is because the liver has a central role in synthetic, degradative, and regulatory pathways involving carbohydrate, protein, lipid, trace element, and vitamin metabolism. Therefore, inborn errors of metabolism will result in metabolic abnormalities, specific enzyme deficiencies or defects, and disorders of protein transport that can have primary or…

Cholestasis

Neonatal Cholestasis H. Hesham Abdel-Kader Hassan William F. Balistreri Neonatal cholestasis is defined biochemically as prolonged elevation of the serum levels of conjugated bilirubin beyond the first 14 days of life. Jaundice that appears after 2 wk of age, continues to progress, or does not resolve by this age should be evaluated and a conjugated bilirubin level determined. Cholestasis in a newborn can be caused by infectious, genetic, metabolic,…

Manifestations of Liver Disease

Pathologic Manifestations Congenital and acquired alterations in hepatic structure and function (acute or chronic) can be manifest by varying patterns of reaction of the liver to cell injury. Hepatocyte injury can be caused by viral infection, drugs or toxins, hypoxia, immunologic and structural disorders, or inborn errors of metabolism. The injury results in inflammatory cell infiltration and cell death (necrosis), which may be followed by a…

Morphogenesis of the Liver and Biliary System

During the early embryonic process of gastrulation, the 3 embryonic germ layers (endoderm, mesoderm, and ectoderm) are formed. The liver and biliary system arises from cells of the ventral foregut endoderm; their development can be divided into 3 distinct processes ( Fig. 381.1 ). First, through unknown mechanisms, the ventral foregut endoderm acquires competence to receive signals arising from the cardiac mesoderm. These mesodermal signals, in…

Pancreatitis

Acute Pancreatitis Steven L. Werlin Michael Wilschanski Keywords Acute pancreatitis acute pancreatitis etiology acute pancreatitis diagnosis drug-induced pancreatitis (serum) amylase (serum) lipase Acute pancreatitis (AP), the most common pancreatic disorder in children, is increasing in incidence, and 50 or more cases are usually seen in major pediatric centers per year. In children, blunt abdominal injuries, multisystem disease such as the hemolytic uremic syndrome and inflammatory bowel disease, biliary…

Disorders of the Exocrine Pancreas

Disorders Associated With Pancreatic Insufficiency Other than cystic fibrosis (CF), conditions that cause pancreatic insufficiency are very rare in children. They include Shwachman-Diamond syndrome (SDS), Johanson-Blizzard syndrome, Ivemark syndrome, Pearson syndrome, isolated enzyme deficiencies, enterokinase deficiency (see Chapter 364 ), chronic pancreatitis, protein-calorie malnutrition (see Chapters 57 and 364 ), and IMNEPD (infantile onset multisystem neurologic, endocrine, and pancreatic disease). Cystic Fibrosis (see Chapter 432 )…