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Pancreatitis

Pediatric Pancreatitis Pancreatitis is increasing in incidence and is becoming more frequently recognized in the pediatric population. Estimates of incidence are between 3.6 and 13.2 cases per 100,000 children annually. Children may present with only a single episode; however, up to 30% of patients progress to acute recurrent pancreatitis and/or chronic pancreatitis. As opposed to in adults, where gallstone and alcohol-induced pancreatitis are common, the etiologies…

Cystic Fibrosis and Congenital Anomalies of the Exocrine Pancreas

Cystic Fibrosis Cystic fibrosis (CF) is an autosomal recessive disease that affects approximately 30,000 children and adults in the United States and 70,000 worldwide. CF involves multiple organ systems, and presents with varied clinical symptoms. Although pulmonary disease is the major cause of morbidity and mortality among patients with CF, 85% to 90% of individuals have exocrine pancreatic insufficiency and gastrointestinal symptoms. The majority of patients…

Pancreatic Development

Buds Form and Fuse The pancreas arises early in gestation from the posterior foregut endoderm. A dorsal and a ventral bud first form before migrating and eventually fusing to form a single tissue. Specifically at day 26 of gestation, the foregut evaginates into a condensation of overlying mesenchyme to form the first morphological evidence of the dorsal bud; 6 days later, a ventral bud forms. At…

Diseases of the Gallbladder

Gallbladder disease in children has evolved over the last 25 years. Improved diagnostic modalities, such as abdominal ultrasound, have led to “incidental” or “silent” gallstones being detected more often in children, even in utero . Although hemolytic disease remains a common cause of cholelithiasis, obesity-related and metabolic syndrome–related stones are increasing in frequency. Gallstones may also be found in patients with other conditions such as prematurity,…

Liver Transplantation in Children

Orthotopic liver transplantation (LTX) has become an accepted means for the treatment of end-stage liver disease in both adults and children. The history of pediatric LTX starts with the first human attempt at transplantation by Dr. Starzl in 1963. The patient, a 3-year-old boy who had biliary atresia, ultimately died of hemorrhage and coagulopathy. The first successful LTX, in 1967 in a 1-year-old patient with hepatoma,…

Liver Failure

Pediatric liver disease is a significant cause of morbidity and mortality worldwide. Advances in diagnosis and treatment, including the successful development of transplantation, have dramatically improved the natural history and outcome for infants and children. Liver failure is a loss of the synthetic properties of the liver. The antecedent cause may be the progression of chronic liver disease or hepatocellular necrosis in acute liver failure (ALF).…

Portal Hypertension

Portal hypertension (PHT) is a rare problem in pediatrics that can affect multiple organ systems. Prolonged increases in portal pressure can result in life-threatening complications and lead to an array of chronic morbidities. The most common causes of PHT in children are biliary atresia (BA) and extrahepatic portal vein obstruction (EHPVO); however, it can also be caused by a wide variety of pediatric liver disorders. There…

Acute and Chronic Hepatitis

Hepatitis is defined as inflammatory liver injury regardless of cause. Discoveries in the field of molecular biology, microbiology, metabolism, and immunology have greatly expanded the viral “hepatitis alphabet” and our understanding of many of these infectious and inflammatory diseases. New questions have also been raised, and the body of information has become more complex. This chapter describes acute and chronic hepatitis caused by viruses that affect…

Nonalcoholic Fatty Liver Disease

Introduction Nonalcoholic fatty liver disease (NAFLD) has emerged as the most common form of chronic liver disease in children and has evolved into a serious public health issue. Similar to its presentation in adults, pediatric NAFLD is tightly associated with obesity, insulin resistance, and a number of other metabolic complications. The disease is mostly silent and often incidentally manifests as elevated liver enzyme levels or abnormal…

Abnormalities of Carbohydrate Metabolism and the Liver

The liver is the central organ responsible for carbohydrate metabolism. The liver stores carbohydrates in the form of glycogen and synthesizes glucose through glycogen breakdown and gluconeogenesis. Glucose is an essential nutrient for the function of both the central nervous system and muscle. Disorders of carbohydrate metabolism may be acquired or inborn. This chapter highlights the molecular basis, clinical presentation, diagnosis, and therapy of the most…

Abnormalities of Hepatic Protein Metabolism

Three disorders are discussed in this chapter, including α1-antitrypsin deficiency, tyrosinemia, and urea-cycle enzyme defects. α1-Antitrypsin Deficiency The description of α1-antitrypsin deficiency and its association with lung disease was reported in 1963 by Laurell and Eriksson. The association between α1-antitrypsin deficiency and hepatic cirrhosis in children was initially identified in 1969 by Sharp and coworkers. Since these original observations, it is clear now that α1-antitrypsin deficiency…

Mitochondrial Hepatopathies: Disorders of Fatty Acid Oxidation and the Respiratory Chain

Defects In Fatty Acid Oxidation Fatty acid oxidation (FAO) provides an important source of energy during fasting and physiologic stress, especially in childhood when glycogen stores are limited. Hepatic FAO produces ketone bodies, which are an important secondary energy source for many tissues, including the brain. Defects in any of the proteins in this pathway may lead to disease, and more than 20 individual defects have…

Pediatric Cholestatic Liver Disease

Cholestasis is defined as a pathologic state of reduced bile formation or flow. Most cholestatic conditions can be classified as either obstructive or hepatocellular in origin and result in the retention of substances normally excreted into the bile, such as bilirubin, bile acids, or cholesterol, with consequent cell injury. Obstructive cholestasis results from an anatomic or functional obstruction of the biliary system. This can be at…

Biliary Atresia and Neonatal Disorders of the Bile Ducts

Children with primary disorders of the bile ducts present early in life with classic signs of prolonged conjugated jaundice, pale stools, and dark urine. They represent an important group within the so-called neonatal cholestasis syndrome. Disorders of the bile ducts can be due to developmental anomalies, an inflammatory process, or genetic causes. If corrective surgical treatment is available, it should be instituted early to minimize the…

Neonatal Hepatitis

The term neonatal hepatitis originated in the 1950s when few causes of neonatal liver disease were identified, and pathologists recognized a characteristic histological appearance of the neonatal liver in response to injury. The term has since been used to refer to virtually all forms of liver dysfunction in the neonate that present clinically as jaundice due to conjugated hyperbilirubinemia within the first 3 months of life,…

Structural and Functional Development of the Hepatobiliary System

Introduction This chapter summarizes how the hepatobiliary system develops, from a sheet of undifferentiated cells at 3 weeks’ gestation to an organ capable of performing a myriad of metabolic, synthetic, and detoxifying functions weeks later. The chapter divides hepatobiliary development into two related processes: structural development and functional development. From a clinical standpoint, this chapter can help practitioners better diagnose and treat congenital liver conditions by…

Liver Pathology

Functional Anatomy and Histology of the Liver The liver is composed of lobules of hepatocytes that are bracketed by vascular structures with the central, or hepatic, veins on one side and the portal tracts (with portal veins and hepatic arteries) on the other side. Oxygenated blood from the hepatic artery mixes with blood from the portal vein in the hepatic sinusoids, which bathe the hepatocytes. The…

Gastrointestinal Pathology

Optimal interpretation of endoscopic gastrointestinal biopsy specimens requires adequate clinical information including medication history and illnesses that may have associated gastrointestinal findings. The clinical history can guide additional studies in addition to the standard hematoxylin and eosin staining. Precise identification of the biopsy site enables the most accurate and definitive diagnosis. The endoscopist should attempt to obtain the largest possible piece of tissue. Multiple biopsies for…

Gastrointestinal Motility Procedures

The gastrointestinal (GI) tract has evolved specific mechanisms to allow ingestion of nutrients, their transport for digestion and absorption, and finally the expulsion of unused portions. This aboral propulsion of gastrointestinal contents is orchestrated by the complex interaction between the gastrointestinal muscle and the enteric, peripheral, and central nervous systems and is discussed elsewhere in the text. Each area of the gastrointestinal tract has a specific…

Capsule Endoscopy and Small Bowel Enteroscopy

Small bowel video capsule endoscopy (VCE) was introduced in 2001 as a noninvasive means of obtaining high-quality, color endoscopic images from the duodenum to the cecum. Soon thereafter, VCE challenged traditional studies as the preferred method of examining the small bowel mucosa in adults. Early studies suggested superior lesion detection when compared to push enteroscopy and small bowel follow-through or enteroclysis in the evaluation of obscure…