Alterations of Digestive Function in Children Chapter 40 Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.

2Overview Congenital anomalies Congenital anomalies Structural and functional alterations Structural and functional alterations Cleft lip and palate Cleft lip and palate Esophageal atresia Esophageal atresia Tracheoesophageal fistula Tracheoesophageal fistula Pyloric stenosis Pyloric stenosis Aganglionic megacolon Aganglionic megacolon Imperforate anus Imperforate anus Enzyme deficiencies Enzyme deficiencies Infections Infections

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 3 Cleft Lip and Cleft Palate Cleft lip and cleft palate are developmental anomalies of the first brachial arch Cleft lip and cleft palate are developmental anomalies of the first brachial arch Both caused by multiple gene-environment interactions Both caused by multiple gene-environment interactions Maternal alcohol and tobacco use, maternal diabetes mellitus, and variations in the transforming growth factor-alpha (TGF-α) gene Maternal alcohol and tobacco use, maternal diabetes mellitus, and variations in the transforming growth factor-alpha (TGF-α) gene These factors reduce the amount of neural crest mesenchyme that migrates into the area that will develop into the face of the embryo These factors reduce the amount of neural crest mesenchyme that migrates into the area that will develop into the face of the embryo

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 4 Cleft Lip and Cleft Palate Cleft lip Cleft lip Caused by the incomplete fusion of the nasomedial or intermaxillary process during the second month of development Caused by the incomplete fusion of the nasomedial or intermaxillary process during the second month of development Commonly occurs under one lip, but the defect can be bilateral and symmetric or asymmetric Commonly occurs under one lip, but the defect can be bilateral and symmetric or asymmetric

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 5 Cleft Lip and Cleft Palate Cleft palate Cleft palate Commonly associated with cleft lip, but can occur without it Commonly associated with cleft lip, but can occur without it Results from incomplete fusion of primary palatal shelves during the third month of gestation Results from incomplete fusion of primary palatal shelves during the third month of gestation Infant feeding difficulties and infections are associated with cleft palate Infant feeding difficulties and infections are associated with cleft palate

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 6 Esophageal Malformations Esophageal atresia Esophageal atresia The esophagus ends in a blind pouch The esophagus ends in a blind pouch Tracheoesophageal fistula Tracheoesophageal fistula Abnormal connection between the trachea and the esophagus Abnormal connection between the trachea and the esophagus Various forms Various forms

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 7 Esophageal Atresia and Tracheoesophageal Fistula

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 8 Pyloric Stenosis Cause unknown Cause unknown Males: 5/5000; females 1/5000 Males: 5/5000; females 1/5000 Risk factors Risk factors Increased gastrin secretion by mother in last trimester Increased gastrin secretion by mother in last trimester Overproduction of gastric secretions in infant may be caused by stress-related factors in the mother Overproduction of gastric secretions in infant may be caused by stress-related factors in the mother Exogenous administration of prostaglandin E Exogenous administration of prostaglandin E Down syndrome Down syndrome 6.9% of children have a parent who had pyloric stenosis, 4.9% have a close relative that is affected 6.9% of children have a parent who had pyloric stenosis, 4.9% have a close relative that is affected

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 9 Pyloric Stenosis Obstruction of the pylorus because of hypertrophy of the pyloric sphincter muscle Obstruction of the pylorus because of hypertrophy of the pyloric sphincter muscle Circular muscle of pylorus grossly enlarged because of increased cell size (hypertrophy) and cell number (hyperplasia) Circular muscle of pylorus grossly enlarged because of increased cell size (hypertrophy) and cell number (hyperplasia) TGF-α helps stimulate this increase in muscle mass TGF-α helps stimulate this increase in muscle mass Mucosal lining of pyloric opening is folded and lumen is narrowed by the encroaching muscle Mucosal lining of pyloric opening is folded and lumen is narrowed by the encroaching muscle Due to extra peristaltic effort needed to force gastric contents through the narrow pylorus, the stomach muscle layers may be hypertrophied Due to extra peristaltic effort needed to force gastric contents through the narrow pylorus, the stomach muscle layers may be hypertrophied

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 10 Pyloric Stenosis Child begins projectile vomiting (3-4 feet) at 2 to 3 weeks of age Child begins projectile vomiting (3-4 feet) at 2 to 3 weeks of age Vomiting causes weight loss, electrolyte imbalances, and dehydration Vomiting causes weight loss, electrolyte imbalances, and dehydration On examination, the hypertrophic pylorus is palpable in the right upper quadrant On examination, the hypertrophic pylorus is palpable in the right upper quadrant Surgery and fluid administration often necessary for treatment Surgery and fluid administration often necessary for treatment

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 11 Pyloric Stenosis In severe untreated cases, increased gastric peristalsis and vomiting lead to severe fluid and electrolyte imbalances (hypochloremic metabolic alkalosis), chronic malnutrition, and weight loss In severe untreated cases, increased gastric peristalsis and vomiting lead to severe fluid and electrolyte imbalances (hypochloremic metabolic alkalosis), chronic malnutrition, and weight loss Can be fatal within 4 to 6 weeks Can be fatal within 4 to 6 weeks

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 12 Malrotation During embryonic development, ileum and cecum normally rotate so cecum is in the right lower quadrant, fixed to abdomen by the mesentery During embryonic development, ileum and cecum normally rotate so cecum is in the right lower quadrant, fixed to abdomen by the mesentery Malrotation Malrotation Normal rotation does not occur Normal rotation does not occur Periduodenal band Periduodenal band The malrotated intestine can easily twist due to a poor connection The malrotated intestine can easily twist due to a poor connection

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 13 Meconium Ileus Meconium: substance that fills the intestine before birth; a collection of intestinal gland secretions and amniotic fluid Meconium: substance that fills the intestine before birth; a collection of intestinal gland secretions and amniotic fluid Meconium ileus is a meconium-caused intestinal obstruction in a newborn Meconium ileus is a meconium-caused intestinal obstruction in a newborn Caused by lack of digestive enzymes during fetal life Caused by lack of digestive enzymes during fetal life Common in cystic fibrosis newborns (10%- 15%) Common in cystic fibrosis newborns (10%- 15%) Usually treated with hyperosmolar enemas using fluoroscopy Usually treated with hyperosmolar enemas using fluoroscopy

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 14 Distal Intestinal Obstruction Syndrome Formerly called meconium ileus equivalent Formerly called meconium ileus equivalent With the syndrome, intestinal contents become abnormally thick and impact the intestinal lumen With the syndrome, intestinal contents become abnormally thick and impact the intestinal lumen Impactions frequently occur after periods of dehydration and lack of pancreatic enzymes Impactions frequently occur after periods of dehydration and lack of pancreatic enzymes

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 15 Congenital Aganglionic Megacolon Also called Hirschsprung disease Also called Hirschsprung disease 1 in 5000 live births 1 in 5000 live births Increased incidence in males, siblings of children with Hirschsprung disease, and children with Down syndrome Increased incidence in males, siblings of children with Hirschsprung disease, and children with Down syndrome Cause is unknown but multiple interacting factors and a complex inheritance pattern involving the RET proto-oncogene have been found Cause is unknown but multiple interacting factors and a complex inheritance pattern involving the RET proto-oncogene have been found

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 16 Congenital Aganglionic Megacolon Caused by failure of the parasympathetic nervous system to form intramural ganglion cells in the enteric nerve plexuses Caused by failure of the parasympathetic nervous system to form intramural ganglion cells in the enteric nerve plexuses The aganglionic section of colon is immotile and an obstruction will likely occur The aganglionic section of colon is immotile and an obstruction will likely occur The intestinal segment proximal to the segment lacking ganglion cells is dilated and hypertrophied The intestinal segment proximal to the segment lacking ganglion cells is dilated and hypertrophied

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 17 Congenital Aganglionic Megacolon

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 18 Anorectal Malformations Anal or rectal agenesis, atresia, and fistula Anal or rectal agenesis, atresia, and fistula 40% of infants born with anorectal malformations have other anomalies 40% of infants born with anorectal malformations have other anomalies Down syndrome, congenital heart disease, renal abnormalities, cryptorchidism, esophageal atresia, spine malformations Down syndrome, congenital heart disease, renal abnormalities, cryptorchidism, esophageal atresia, spine malformations

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 19 Anorectal Malformations

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 20 Intussusception Telescoping or invagination of one part of the intestine to another; causes obstruction Telescoping or invagination of one part of the intestine to another; causes obstruction The most common scenario is the ileum invaginating into the cecum The most common scenario is the ileum invaginating into the cecum 80% to 90% of intestinal obstructions in infants and children are intussusception 80% to 90% of intestinal obstructions in infants and children are intussusception Similar to megacolon, the blockage can cause an obstruction of blood and lymphatic flow Similar to megacolon, the blockage can cause an obstruction of blood and lymphatic flow

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 21 Gastroesophageal Reflux Disease (GERD) Related to dilation of the esophagus and reflux of stomach contents Related to dilation of the esophagus and reflux of stomach contents In newborns, reflux is normal because neuromuscular control of the gastroesophageal sphincter is not fully developed In newborns, reflux is normal because neuromuscular control of the gastroesophageal sphincter is not fully developed Newborns with GERD vomit excessively Newborns with GERD vomit excessively

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 22 Cystic Fibrosis A genetically transmitted disease (mutation of the long arm of chromosome 7); involves many organs and systems A genetically transmitted disease (mutation of the long arm of chromosome 7); involves many organs and systems Usually causes death in childhood or young adulthood Usually causes death in childhood or young adulthood Most common cause of chronic suppurative lung disease in children and is the most common life-threatening inherited disease in the white population Most common cause of chronic suppurative lung disease in children and is the most common life-threatening inherited disease in the white population

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 23 Cystic Fibrosis In the digestive tract it causes a deficiency of pancreatic enzymes In the digestive tract it causes a deficiency of pancreatic enzymes Triad Triad Pancreatic enzyme deficiency Pancreatic enzyme deficiency Overproduction of mucus in the respiratory tract Overproduction of mucus in the respiratory tract Abnormally elevated sodium and chloride concentrations Abnormally elevated sodium and chloride concentrations

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 24 Cystic Fibrosis Pancreatic function may range from normal to completely ablated Pancreatic function may range from normal to completely ablated 85% of people have pancreatic insufficiency 85% of people have pancreatic insufficiency Obstruction of the pancreatic ducts with thick mucus blocks the flow of pancreatic enzymes and causes degenerative and fibrotic changes Obstruction of the pancreatic ducts with thick mucus blocks the flow of pancreatic enzymes and causes degenerative and fibrotic changes Pancreatic damage eventually can affect the beta cells, resulting in diabetes mellitus Pancreatic damage eventually can affect the beta cells, resulting in diabetes mellitus Diabetes mellitus and cirrhosis have increased as larger numbers of people with cystic fibrosis have moved into young and middle adulthood Diabetes mellitus and cirrhosis have increased as larger numbers of people with cystic fibrosis have moved into young and middle adulthood

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 25 Gluten-Sensitive Enteropathy (Celiac Disease) Discovered during WWII food rationing (ill children improved); began the movement for nutritional labeling Discovered during WWII food rationing (ill children improved); began the movement for nutritional labeling 1% of the population or 1 in 100 children 1% of the population or 1 in 100 children Involves cellular and humoral immunity Involves cellular and humoral immunity

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 26 Gluten-Sensitive Enteropathy (Celiac Disease) Gluten is the protein component in cereal grains (wheat, rye, barley, oats, malt) Gluten is the protein component in cereal grains (wheat, rye, barley, oats, malt) Person loses villous epithelium in the intestinal tract; gluten protein acts as a toxin Person loses villous epithelium in the intestinal tract; gluten protein acts as a toxin Appears to be caused by dietary, genetic, and immunologic factors Appears to be caused by dietary, genetic, and immunologic factors

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 27 Gluten-Sensitive Enteropathy (Celiac Disease) Children fail to grow and thrive; also exhibit malabsorption symptoms (rickets, bleeding, or anemia) Children fail to grow and thrive; also exhibit malabsorption symptoms (rickets, bleeding, or anemia) Confirmation by performing a tissue biopsy Confirmation by performing a tissue biopsy Person is put on a restrictive diet, and vitamin D, iron, and folic acid supplements are given Person is put on a restrictive diet, and vitamin D, iron, and folic acid supplements are given Celiac crisis results in severe diarrhea, dehydration, malabsorption, and protein loss Celiac crisis results in severe diarrhea, dehydration, malabsorption, and protein loss

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 28 Gluten-Sensitive Enteropathy (Celiac Disease)

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 29 Kwashiorkor and Marasmus Types of malnutrition associated with long- term starvation Types of malnutrition associated with long- term starvation Known collectively as protein energy malnutrition (PEM) Known collectively as protein energy malnutrition (PEM) Kwashiorkor is a severe protein deficiency Kwashiorkor is a severe protein deficiency Marasmus is a deficiency of all nutrients Marasmus is a deficiency of all nutrients Stunted physical and mental development Stunted physical and mental development

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 30 Kwashiorkor and Marasmus Kwashiorkor: lack of proteins causes liver to swell due to the inability to produce lipoproteins for cholesterol synthesis Kwashiorkor: lack of proteins causes liver to swell due to the inability to produce lipoproteins for cholesterol synthesis Marasmus: liver function continues, but overall caloric intake is too low to support cellular protein synthesis Marasmus: liver function continues, but overall caloric intake is too low to support cellular protein synthesis Presence of subcutaneous fat, hepatomegaly, and fatty liver differentiates the two Presence of subcutaneous fat, hepatomegaly, and fatty liver differentiates the two

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 31 Failure to Thrive (FTT) Inadequate physical development of an infant or child Inadequate physical development of an infant or child Deceleration in weight gain, low weight/height ratio, or low weight/height/head circumference ratio Deceleration in weight gain, low weight/height ratio, or low weight/height/head circumference ratio Organic FTT Organic FTT Inorganic FTT Inorganic FTT

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 32 Necrotizing Enterocolitis Most common GI emergency of the newborn Most common GI emergency of the newborn Thought to be from reduced mucosal blood flow Thought to be from reduced mucosal blood flow Ischemia leads to inflammation and necrosis of the intestinal segments Ischemia leads to inflammation and necrosis of the intestinal segments Contributing factors Contributing factors Infections, immature immunity, maternal age >35 years, perinatal stress, and the effects of medications and feeding practices Infections, immature immunity, maternal age >35 years, perinatal stress, and the effects of medications and feeding practices

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 33 Diarrhea Prolonged diarrhea very dangerous Prolonged diarrhea very dangerous Children have lower fluid reserves than adults Children have lower fluid reserves than adults Infant diarrhea Infant diarrhea Infectious diarrhea Infectious diarrhea Acute diarrhea Acute diarrhea Rotavirus Rotavirus Chronic diarrhea Chronic diarrhea

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 34 Primary Lactose Intolerance The inability to digest milk sugar The inability to digest milk sugar Caused by the inadequate production of lactase, the enzyme that catabolizes lactose Caused by the inadequate production of lactase, the enzyme that catabolizes lactose Malabsorbed lactose causes osmotic diarrhea, abdominal pain, bloating, and flatulence Malabsorbed lactose causes osmotic diarrhea, abdominal pain, bloating, and flatulence

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 35 Physiologic Jaundice of the Newborn A benign, transient icterus that occurs during the first week of life in otherwise healthy, full-term infants A benign, transient icterus that occurs during the first week of life in otherwise healthy, full-term infants Mild unconjugated hyperbilirubinemia Mild unconjugated hyperbilirubinemia Kernicterus Kernicterus Usually treated by phototherapy Usually treated by phototherapy

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 36 Biliary Atresia Congenital malformation characterized by the absence or obstruction of the intrahepatic or extrahepatic bile ducts Congenital malformation characterized by the absence or obstruction of the intrahepatic or extrahepatic bile ducts Plugging, inflammation, and fibrosis of the bile canaliculi, and extrahepatic biliary tree Plugging, inflammation, and fibrosis of the bile canaliculi, and extrahepatic biliary tree Jaundice is the primary clinical manifestation Jaundice is the primary clinical manifestation

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 37 Biliary Atresia

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 38 Hepatitis Hepatitis A Hepatitis A 33% of hepatitis A infections occur in children 33% of hepatitis A infections occur in children Hepatitis B Hepatitis B 90% of newborns infected with hepatitis B from their mothers develop chronic hepatitis and become carriers 90% of newborns infected with hepatitis B from their mothers develop chronic hepatitis and become carriers Hepatitis C Hepatitis C Associated primarily with blood transfusions Associated primarily with blood transfusions Chronic hepatitis Chronic hepatitis

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 39 Cirrhosis Chronic liver diseases in children can progress to cirrhosis, but it is infrequent Chronic liver diseases in children can progress to cirrhosis, but it is infrequent The complications for cirrhosis in children are the same as in adults The complications for cirrhosis in children are the same as in adults Children may also experience growth failure, nutritional deficits, and developmental delay Children may also experience growth failure, nutritional deficits, and developmental delay

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 40 Portal Hypertension Extrahepatic portal hypertension Extrahepatic portal hypertension Intrahepatic portal hypertension Intrahepatic portal hypertension Splenomegaly Splenomegaly Hepatic encephalopathy Hepatic encephalopathy

Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 41 Wilson Disease Autosomal recessive defect of copper metabolism; causes toxic levels of copper to accumulate in the liver, brain, kidneys, and corneas Autosomal recessive defect of copper metabolism; causes toxic levels of copper to accumulate in the liver, brain, kidneys, and corneas Abnormalities Abnormalities Diminished biliary excretion Diminished biliary excretion Failure to insert copper in to ceruloplasmin Failure to insert copper in to ceruloplasmin