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

Alterations of Digestive Function in Alterations of Digestive Function in ChildrenChildren

Chapter 40Chapter 40

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

22Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.Mosby items and derived items © 2010, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.

OverviewOverview

Congenital anomaliesCongenital anomalies Structural and functional alterationsStructural and functional alterations

• Cleft lip and palateCleft lip and palate

• Esophageal atresiaEsophageal atresia

• Tracheoesophageal fistulaTracheoesophageal fistula

• Pyloric stenosisPyloric stenosis

• Aganglionic megacolonAganglionic megacolon

• Imperforate anusImperforate anus

Enzyme deficienciesEnzyme deficiencies InfectionsInfections


Cleft Lip and Cleft PalateCleft Lip and Cleft Palate Cleft lip and cleft palate are developmental Cleft lip and cleft palate are developmental

anomalies of the first brachial archanomalies of the first brachial arch Both caused by multiple gene-environment Both caused by multiple gene-environment

interactionsinteractions Maternal alcohol and tobacco use, maternal Maternal alcohol and tobacco use, maternal

diabetes mellitus, and variations in the diabetes mellitus, and variations in the transforming growth factor-alpha (TGF-transforming growth factor-alpha (TGF-αα) ) genegene

These factors reduce the amount of neural crest These factors reduce the amount of neural crest mesenchyme that migrates into the area that will mesenchyme that migrates into the area that will develop into the face of the embryodevelop into the face of the embryo


Cleft Lip and Cleft PalateCleft Lip and Cleft Palate Cleft lipCleft lip

Caused by the incomplete fusion of the Caused by the incomplete fusion of the nasomedial or intermaxillary process during the nasomedial or intermaxillary process during the second month of developmentsecond month of development

Commonly occurs under one lip, but the defect Commonly occurs under one lip, but the defect can be bilateral and symmetric or asymmetric can be bilateral and symmetric or asymmetric


Cleft Lip and Cleft PalateCleft Lip and Cleft Palate Cleft palateCleft palate

Commonly associated with cleft lip, but can occur Commonly associated with cleft lip, but can occur without it without it

Results from incomplete fusion of primary palatal Results from incomplete fusion of primary palatal shelves during the third month of gestationshelves during the third month of gestation

Infant feeding difficulties and infections are Infant feeding difficulties and infections are associated with cleft palateassociated with cleft palate


Esophageal MalformationsEsophageal Malformations Esophageal atresiaEsophageal atresia

The esophagus ends in a blind pouchThe esophagus ends in a blind pouch Tracheoesophageal fistulaTracheoesophageal fistula

Abnormal connection between the trachea and the Abnormal connection between the trachea and the esophagusesophagus

Various formsVarious forms


Esophageal Atresia and Esophageal Atresia and Tracheoesophageal FistulaTracheoesophageal Fistula


Pyloric StenosisPyloric Stenosis Cause unknown Cause unknown Males: 5/5000; females 1/5000Males: 5/5000; females 1/5000 Risk factorsRisk 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 Overproduction of gastric secretions in infant may be

caused by stress-related factors in the mothercaused by stress-related factors in the mother Exogenous administration of prostaglandin E Exogenous administration of prostaglandin E Down syndromeDown syndrome 6.9% of children have a parent who had pyloric 6.9% of children have a parent who had pyloric

stenosis, 4.9% have a close relative that is affectedstenosis, 4.9% have a close relative that is affected


Pyloric StenosisPyloric Stenosis Obstruction of the pylorus because of Obstruction of the pylorus because of

hypertrophy of the pyloric sphincter musclehypertrophy of the pyloric sphincter muscle Circular muscle of pylorus grossly enlarged Circular muscle of pylorus grossly enlarged

because of increased cell size (hypertrophy) and because of increased cell size (hypertrophy) and cell number (hyperplasia)cell number (hyperplasia) TGF-TGF-αα helps stimulate this increase in muscle mass helps stimulate this increase in muscle mass

Mucosal lining of pyloric opening is folded and Mucosal lining of pyloric opening is folded and lumen is narrowed by the encroaching musclelumen is narrowed by the encroaching muscle

Due to extra peristaltic effort needed to force Due to extra peristaltic effort needed to force gastric contents through the narrow pylorus, the gastric contents through the narrow pylorus, the stomach muscle layers may be hypertrophiedstomach muscle layers may be hypertrophied


Pyloric StenosisPyloric Stenosis

Child begins projectile vomiting (3-4 feet) at 2 to Child begins projectile vomiting (3-4 feet) at 2 to 3 weeks of age 3 weeks of age

Vomiting causes weight loss, electrolyte Vomiting causes weight loss, electrolyte imbalances, and dehydrationimbalances, and dehydration

On examination, the hypertrophic pylorus is On examination, the hypertrophic pylorus is palpable in the right upper quadrantpalpable in the right upper quadrant

Surgery and fluid administration often necessary Surgery and fluid administration often necessary for treatmentfor treatment


Pyloric StenosisPyloric Stenosis In severe untreated cases, increased gastric In severe untreated cases, increased gastric

peristalsis and vomiting lead to severe fluid and peristalsis and vomiting lead to severe fluid and electrolyte imbalances (hypochloremic metabolic electrolyte imbalances (hypochloremic metabolic alkalosis), chronic malnutrition, and weight lossalkalosis), chronic malnutrition, and weight loss

Can be fatal within 4 to 6 weeks Can be fatal within 4 to 6 weeks


MalrotationMalrotation

During embryonic development, ileum and cecum During embryonic development, ileum and cecum normally rotate so cecum is in the right lower normally rotate so cecum is in the right lower quadrant, fixed to abdomen by the mesenteryquadrant, fixed to abdomen by the mesentery

Malrotation Malrotation Normal rotation does not occurNormal rotation does not occur

• Periduodenal bandPeriduodenal band The malrotated intestine can easily twist due to a poor The malrotated intestine can easily twist due to a poor

connectionconnection


Meconium IleusMeconium Ileus Meconium: substance that fills the intestine Meconium: substance that fills the intestine

before birth; a collection of intestinal gland before birth; a collection of intestinal gland secretions and amniotic fluidsecretions and amniotic fluid

Meconium ileus is a meconium-caused Meconium ileus is a meconium-caused intestinal obstruction in a newborn intestinal obstruction in a newborn

Caused by lack of digestive enzymes during Caused by lack of digestive enzymes during fetal lifefetal life

Common in cystic fibrosis newborns (10%-Common in cystic fibrosis newborns (10%-15%)15%)

Usually treated with hyperosmolar enemas Usually treated with hyperosmolar enemas using fluoroscopyusing fluoroscopy


Distal Intestinal Obstruction Distal Intestinal Obstruction SyndromeSyndrome

Formerly called meconium ileus equivalentFormerly called meconium ileus equivalent With the syndrome, intestinal contents become With the syndrome, intestinal contents become

abnormally thick and impact the intestinal lumenabnormally thick and impact the intestinal lumen Impactions frequently occur after periods of Impactions frequently occur after periods of

dehydration and lack of pancreatic enzymesdehydration and lack of pancreatic enzymes


Congenital Aganglionic Congenital Aganglionic MegacolonMegacolon

Also called Hirschsprung diseaseAlso called Hirschsprung disease 1 in 5000 live births1 in 5000 live births Increased incidence in males, siblings of Increased incidence in males, siblings of

children with Hirschsprung disease, and children with Hirschsprung disease, and children with Down syndromechildren with Down syndrome

Cause is unknown but multiple interacting Cause is unknown but multiple interacting factors and a complex inheritance pattern factors and a complex inheritance pattern involving the RET proto-oncogene have been involving the RET proto-oncogene have been found found


Congenital Aganglionic Congenital Aganglionic MegacolonMegacolon

Caused by failure of the parasympathetic Caused by failure of the parasympathetic nervous system to form intramural ganglion cells nervous system to form intramural ganglion cells in the enteric nerve plexusesin the enteric nerve plexuses

The aganglionic section of colon is immotile and The aganglionic section of colon is immotile and an obstruction will likely occuran obstruction will likely occur

The intestinal segment proximal to the segment The intestinal segment proximal to the segment lacking ganglion cells is dilated and lacking ganglion cells is dilated and hypertrophiedhypertrophied


Congenital Aganglionic MegacolonCongenital Aganglionic Megacolon


Anorectal MalformationsAnorectal Malformations Anal or rectal agenesis, atresia, and fistulaAnal or rectal agenesis, atresia, and fistula 40% of infants born with anorectal 40% of infants born with anorectal

malformations have other anomaliesmalformations have other anomalies Down syndrome, congenital heart disease, renal Down syndrome, congenital heart disease, renal

abnormalities, cryptorchidism, esophageal atresia, abnormalities, cryptorchidism, esophageal atresia, spine malformationsspine malformations


Anorectal MalformationsAnorectal Malformations


IntussusceptionIntussusception Telescoping or invagination of one part of the Telescoping or invagination of one part of the

intestine to another; causes obstructionintestine to another; causes obstruction The most common scenario is the ileum The most common scenario is the ileum

invaginating into the cecuminvaginating into the cecum 80% to 90% of intestinal obstructions in 80% to 90% of intestinal obstructions in

infants and children are intussusceptioninfants and children are intussusception Similar to megacolon, the blockage can Similar to megacolon, the blockage can

cause an obstruction of blood and lymphatic cause an obstruction of blood and lymphatic flowflow


Gastroesophageal Reflux Disease Gastroesophageal Reflux Disease (GERD)(GERD)

Related to dilation of the esophagus and reflux Related to dilation of the esophagus and reflux of stomach contentsof stomach contents

In newborns, reflux is normal because In newborns, reflux is normal because neuromuscular control of the gastroesophageal neuromuscular control of the gastroesophageal sphincter is not fully developedsphincter is not fully developed

Newborns with GERD vomit excessivelyNewborns with GERD vomit excessively


Cystic FibrosisCystic Fibrosis A genetically transmitted disease (mutation of A genetically transmitted disease (mutation of

the long arm of chromosome 7); involves the long arm of chromosome 7); involves many organs and systemsmany organs and systems

Usually causes death in childhood or young Usually causes death in childhood or young adulthoodadulthood

Most common cause of chronic suppurative Most common cause of chronic suppurative lung disease in children and is the most lung disease in children and is the most common life-threatening inherited disease in common life-threatening inherited disease in the white population the white population


Cystic FibrosisCystic Fibrosis In the digestive tract it causes a deficiency of In the digestive tract it causes a deficiency of

pancreatic enzymespancreatic enzymes TriadTriad

Pancreatic enzyme deficiencyPancreatic enzyme deficiency Overproduction of mucus in the respiratory tractOverproduction of mucus in the respiratory tract Abnormally elevated sodium and chloride Abnormally elevated sodium and chloride

concentrationsconcentrations


Cystic FibrosisCystic Fibrosis Pancreatic function may range from normal to Pancreatic function may range from normal to

completely ablatedcompletely ablated 85% of people have pancreatic insufficiency85% of people have pancreatic insufficiency Obstruction of the pancreatic ducts with thick Obstruction of the pancreatic ducts with thick

mucus blocks the flow of pancreatic enzymes mucus blocks the flow of pancreatic enzymes and causes degenerative and fibrotic changes and causes degenerative and fibrotic changes Pancreatic damage eventually can affect the beta Pancreatic damage eventually can affect the beta

cells, resulting in diabetes mellitus cells, resulting in diabetes mellitus Diabetes mellitus and cirrhosis have increased as Diabetes mellitus and cirrhosis have increased as

larger numbers of people with cystic fibrosis have larger numbers of people with cystic fibrosis have moved into young and middle adulthoodmoved into young and middle adulthood


Gluten-Sensitive Enteropathy Gluten-Sensitive Enteropathy (Celiac Disease)(Celiac Disease)

Discovered during WWII food rationing (ill Discovered during WWII food rationing (ill children improved); began the movement for children improved); began the movement for nutritional labelingnutritional labeling

1% of the population or 1 in 100 children 1% of the population or 1 in 100 children Involves cellular and humoral immunityInvolves cellular and humoral immunity



Gluten is the protein component in cereal grains Gluten is the protein component in cereal grains (wheat, rye, barley, oats, malt) (wheat, rye, barley, oats, malt)

Person loses villous epithelium in the intestinal Person loses villous epithelium in the intestinal tract; gluten protein acts as a toxintract; gluten protein acts as a toxin

Appears to be caused by dietary, genetic, and Appears to be caused by dietary, genetic, and immunologic factors immunologic factors



Children fail to grow and thrive; also exhibit Children fail to grow and thrive; also exhibit malabsorption symptoms (rickets, bleeding, or malabsorption symptoms (rickets, bleeding, or anemia)anemia)

Confirmation by performing a tissue biopsyConfirmation by performing a tissue biopsy Person is put on a restrictive diet, and vitamin D, Person is put on a restrictive diet, and vitamin D,

iron, and folic acid supplements are giveniron, and folic acid supplements are given Celiac crisis results in severe diarrhea, Celiac crisis results in severe diarrhea,

dehydration, malabsorption, and protein lossdehydration, malabsorption, and protein loss




Kwashiorkor and MarasmusKwashiorkor and Marasmus Types of malnutrition associated with long-Types of malnutrition associated with long-

term starvationterm starvation Known collectively as protein energy Known collectively as protein energy

malnutrition (PEM)malnutrition (PEM) Kwashiorkor is a severe protein deficiency Kwashiorkor is a severe protein deficiency Marasmus is a deficiency of all nutrientsMarasmus is a deficiency of all nutrients Stunted physical and mental developmentStunted physical and mental development


Kwashiorkor and MarasmusKwashiorkor and Marasmus Kwashiorkor: lack of proteins causes liver to Kwashiorkor: lack of proteins causes liver to

swell due to the inability to produce swell due to the inability to produce lipoproteins for cholesterol synthesis lipoproteins for cholesterol synthesis

Marasmus: liver function continues, but Marasmus: liver function continues, but overall caloric intake is too low to support overall caloric intake is too low to support cellular protein synthesis cellular protein synthesis

Presence of subcutaneous fat, Presence of subcutaneous fat, hepatomegaly, and fatty liver differentiates hepatomegaly, and fatty liver differentiates the twothe two


Failure to Thrive (FTT)Failure to Thrive (FTT) Inadequate physical development of an infant Inadequate physical development of an infant

or childor child Deceleration in weight gain, low weight/height Deceleration in weight gain, low weight/height

ratio, or low weight/height/head circumference ratio, or low weight/height/head circumference ratio ratio

Organic FTTOrganic FTT Inorganic FTTInorganic FTT


Necrotizing EnterocolitisNecrotizing Enterocolitis Most common GI emergency of the newborn Most common GI emergency of the newborn Thought to be from reduced mucosal blood Thought to be from reduced mucosal blood

flowflow Ischemia leads to inflammation and necrosis of the Ischemia leads to inflammation and necrosis of the

intestinal segmentsintestinal segments Contributing factorsContributing factors

Infections, immature immunity, maternal age >35 Infections, immature immunity, maternal age >35 years, perinatal stress, and the effects of years, perinatal stress, and the effects of medications and feeding practicesmedications and feeding practices


DiarrheaDiarrhea Prolonged diarrhea very dangerous Prolonged diarrhea very dangerous Children have lower fluid reserves than adultsChildren have lower fluid reserves than adults Infant diarrheaInfant diarrhea Infectious diarrheaInfectious diarrhea Acute diarrheaAcute diarrhea RotavirusRotavirus Chronic diarrheaChronic diarrhea


Primary Lactose IntolerancePrimary Lactose Intolerance The inability to digest milk sugarThe inability to digest milk sugar Caused by the inadequate production of Caused by the inadequate production of

lactase, the enzyme that catabolizes lactoselactase, the enzyme that catabolizes lactose Malabsorbed lactose causes osmotic Malabsorbed lactose causes osmotic

diarrhea, abdominal pain, bloating, and diarrhea, abdominal pain, bloating, and flatulence flatulence


Physiologic Jaundice of the Physiologic Jaundice of the NewbornNewborn

A benign, transient icterus that occurs during the A benign, transient icterus that occurs during the first week of life in otherwise healthy, full-term first week of life in otherwise healthy, full-term infantsinfants

Mild unconjugated hyperbilirubinemiaMild unconjugated hyperbilirubinemia KernicterusKernicterus Usually treated by phototherapyUsually treated by phototherapy


Biliary AtresiaBiliary Atresia Congenital malformation characterized by the Congenital malformation characterized by the

absence or obstruction of the intrahepatic or absence or obstruction of the intrahepatic or extrahepatic bile ductsextrahepatic bile ducts Plugging, inflammation, and fibrosis of the bile Plugging, inflammation, and fibrosis of the bile

canaliculi, and extrahepatic biliary treecanaliculi, and extrahepatic biliary tree Jaundice is the primary clinical manifestationJaundice is the primary clinical manifestation


Biliary AtresiaBiliary Atresia


HepatitisHepatitis Hepatitis AHepatitis A

33% of hepatitis A infections occur in children33% of hepatitis A infections occur in children Hepatitis BHepatitis B

90% of newborns infected with hepatitis B from their 90% of newborns infected with hepatitis B from their mothers develop chronic hepatitis and become mothers develop chronic hepatitis and become carrierscarriers

Hepatitis CHepatitis C Associated primarily with blood transfusionsAssociated primarily with blood transfusions

Chronic hepatitisChronic hepatitis


CirrhosisCirrhosis Chronic liver diseases in children can Chronic liver diseases in children can

progress to cirrhosis, but it is infrequentprogress to cirrhosis, but it is infrequent The complications for cirrhosis in children are The complications for cirrhosis in children are

the same as in adultsthe same as in adults Children may also experience growth failure, Children may also experience growth failure,

nutritional deficits, and developmental delaynutritional deficits, and developmental delay


Portal HypertensionPortal Hypertension Extrahepatic portal hypertensionExtrahepatic portal hypertension Intrahepatic portal hypertensionIntrahepatic portal hypertension SplenomegalySplenomegaly Hepatic encephalopathyHepatic encephalopathy


Wilson DiseaseWilson Disease Autosomal recessive defect of copper Autosomal recessive defect of copper

metabolism; causes toxic levels of copper to metabolism; causes toxic levels of copper to accumulate in the liver, brain, kidneys, and accumulate in the liver, brain, kidneys, and corneascorneas

AbnormalitiesAbnormalities Diminished biliary excretionDiminished biliary excretion Failure to insert copper in to ceruloplasminFailure to insert copper in to ceruloplasmin

Documents

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