Alterations of the Alterations of the Digestive Function in Digestive Function in ChildrenChildren

Congenital Impairment of Congenital Impairment of MotilityMotilityCleft lipCleft palateEsophageal MalformationPyloric StenosisIntestinal MalrotationMeconium IleusDistal Intestinal ObstructionObstruction of the Duodenum,

Jejunum, IleumCongenital Aganglionic MegacolonAnal-rectal Malformations

Cleft lip and Cleft PalateCleft lip and Cleft PalateCleft lip is the incomplete fusion

of the nasomedial or intermaxillary process. It is a deformity usually beneath the center of one or both nostrils.

Cleft palate is often associated with cleft lip but may occur alone.

A and B show variations of cleft lip. C and D show variations of cleft palate.

Risk factors/causes: Cleft lip and palateMultiple gene-environment interactions including maternal alcohol and tobacco use, diabetes, and genetic variations.The cleft can be part of a single mutant gene or part of chromosomal defect.

Clinical Manifestations:Feeding may be difficult depending on the severity of defect and if infant is able to show a productive suck. Specialized nipples and orthodontic prosthesis for the roof of the mouth are an option.

Esophageal MalformationsEsophageal MalformationsEsophageal atresia is a condition

where the esophagus ends in a blind pouch. This is often seen with a fistula between the esophagus and trachea.

Risk factors/causes: Esophageal MalformationsThought to arrive from impaired differentiation as the trachea separates from the esophagus during the 4th-6th week of embryonic development, concurrent anorectal malformation.

Clinical manifestations:Drooling and occasional aspiration as blind end of pouch fills and overflows into pharynx.If there is a fistula feeing and breathing may be problematic.

Pyloric StenosisPyloric StenosisOne of the most common

disorders of early infancy.It is an obstruction of the pyloric

sphincter caused by hypertrophy of the sphincter muscle.

Pyloric stenosis continued…Pyloric stenosis continued…

An infant who is well fed and gaining weight begins to vomit for no apparent reason. Some evidence shows higher risk in infants with familial history of pyloric stenosis.

Risk factor/causes: Pyloric Stenosis

Maternal stress related factors (increased gastric secretion in last trimester), white male, exogenous administration of prostoglandin E, Downs syndrome, and genetic relative with pyloric stenosis.

Clinical manifestations:Projectile vomiting (increasingly forceful),

prolonged retention of food in the stomach, constipation, occasionally fluid and electrolyte issues, weight loss, and death.

Intestinal MalrotationIntestinal MalrotationA condition that

occurs in embryonic development where the normal rotation of the ileum and cecum is altered so that the colon remains in the URQ. The small intestine lacks the normal attachment and can twist (causing volvulus) leading to infarction and necrosis of part of the intestine.

Clinical manifestations: Intestinal MalrotationVolvulus and infarction, bile

stained nausea/vomiting after feedings, abdominal distention, dehydration and electrolyte imbalance, fever pain, and bloody stools.

Meconium IleusMeconium IleusMeconium is a thick

sticky substance that fills a newborns entire intestine and is normally passed during the first few days after birth. Ileus occurs when abnormally sticky meconium causes obstruction in the small intestine.

Risk factor/causes: Meconium Ileus

Cystic fibrosis, premature birth, maternal hydramnios

Clinical manifestations:Abdominal distention, vomiting,

possibly pulmonary involvement (especially with CF, hyperactive perisalsis, firm movable masses.

DIOS DIOS (Distal Intestinal Obstructive Syndrome)(Distal Intestinal Obstructive Syndrome)Intestinal contents become

abnormally thick and impact intestinal lumen.

Affects 15% of people with cystic fibrosis

Consider: 31 y/o patient with CF dx with DIOS who in 24h had 5 doses of GoLYTELY, 400mg docolax PO, 200mg senna PO, and 34g polyethylene glycol 3350 PO with no change in bowel patterns.

Risk factor/causes: DIOSCystic fibrosis

Clinical manifestations:Abdominal distention, pain, nausea,

vomiting.

Obstruction of the Duodenum, Obstruction of the Duodenum, Jejunum, and IleumJejunum, and IleumCaused by internal malformation

or external pressure

Risk factor/causes: Obstruction small intestine

Failure of duodenum to function, peritoneal band contrition of duodenum, ileus, pancreatic defect, hHirschsprung, Meckel diverticulum, hernia.

Clinical manifestations:Pain, nausea, vomiting, distention

Congenital Aganglionic Congenital Aganglionic MegacolonMegacolon

Functional obstruction of the colon caused by inadequate motility. The most distal part of rectum is always involved. Increased incidence in males, Hirschsprung disease and Down syndrome.

Risk factor/causes: MegacolonHirschsprung disease, inadequate

motility, complex inheritance factors, male, Downs syndrome.

Clinical manifestations:Constipation, diarrhea, impaction,

edema, ischemia, infarction of mucosa, sepsis, fever, vomiting, death.

Anorectal MalformationAnorectal MalformationGeneral category for several

conditions that may obstruct the passage of stool including:

-anal stenosis-anal or rectal agenesis-atresia-fistula

Complete obstruction are known as imperforate anus

Risk factor/causes: Anorectal MalformationOther developmental anomalies, Down syndrome, congenital heart disease, renal issues, esophageal atresia, cryptorchidism, malformation of the spine.

Clinical manifestations:Anal stenosis, bowel incontinence.

Aquired Impairment of Aquired Impairment of MotilityMotilityIntussusceptionGastroesophageal Reflux (GER)

IntussusceptionIntussusceptionIntussusception is

the invagination of one portion of intestine into another. Sudden adominal pain, vomiting, & possibly bloody stools. If untreated almost always fatal.

Risk factors/causes: IntussusceptionMale under 2 years, all ages abdominal surgery, cystic fibrosis, bowel obstruction

Clinical manifestations:Sudden pain, irritable (draws up the knees), vomiting, dark/gelatinous stool, tender sausage shaped abdominal mass.

Gatroesophageal RefluxGatroesophageal RefluxInvolves dilation of esophagus

with intrusion of acid contents. Increased incidence in children with neurological impairment, cerebral palsy, and cystic fibrosis. Eighty-five percent of affected infants vomit excessively.

Risk factors/causes: GERPremature infants, cerebral palsy, reactive airway disease, cystic fibrosis.

Clinical manifestations:Excessive vomiting (sometimes forceful), aspiration pneumonia, chronic cough, failure to thrive, pain, bleeding, iron deficiency.

Impairment of Digestion, Impairment of Digestion, Absorption, and NutritionAbsorption, and NutritionCystic FibrosisGluten-Sensitivity EnteropathyProtein Energy MalnutritionFailure to ThriveNecrotizing Enterocolitis

Cystic Fibrosis (CF)Cystic Fibrosis (CF)Hallmark triad: 1) Pancreatic enzyme

deficiency 2) overproduction of mucus 3) abnormally elevated sodium and chloride concentrations

Once only a childhood disease many people are surviving into adulthood

Secondary problems include maldigestion, diabetes, frequent infections, chronic obstructive pulmonary disease, cirrhosis, bowel issues

Risk factors/causes: CFGenetically inherieted mutation of the

long arm of chromosome 7

Clinical manifestations:Overproduction/retention of mucus,

hyponatremia and hypocloremia, nutritional deficiencies, diabetes, pulmonary complications, intestinal complications, frequent infections.

Gluten-Sensitive Gluten-Sensitive EnteropathyEnteropathy(formerly called Celiac disease)(formerly called Celiac disease)Loss of mature villious epithelium

caused from eating gluten (protein in wheat, rye, barley, and oats).

Cellular and humoral immunity are thought be play a role.

Risk factors/causes: Gluten-Sensitive

EnteropathyConcurrent autoimmune diseases,

white.

Clinical manifestations:Diarrhea, pale, bulky, greasy, foul

smelling stool, constipation, vomiting, pain, failure to thrive, malnutrition.

FailureFailure to Thrive (FTT) to Thrive (FTT)Organic FTT is caused from a

known gastrointestinal source that causes nutritional deficiencies and inadequate physical development of an infant or child.

Nonorganic FTT occurs in the absence of any known gastrointestinal, endocrine or other chronic disease and often has behavioral and psychological roots.

Risk factors/causes: FTTEconomic and psycho-social

deprivation, GER, pyloric stenosis, intestinal parasite, chronic disease.

Clinical manifestations:Slowed growth, reduced

energy/interaction, stress, malnutrition.

Necrotizing Enterocolitis Necrotizing Enterocolitis (NEC)(NEC)

Exact etiology unclearIf not treated bowel necrosis,

perforation, and death can result. Contributing factors: infection,

immature immunity, maternal age<35, and perinatal stress.

Terminal ileum and proximal colon most frequently involved.

Risk factors/causes: NECPrematurity, newborn full term infants

(risk decreases as GI tract matures)

Clinical manifestations:Abdominal distention, bowel

perforation, sepsis, pain, temperature, bradycardia, apnea, bloody stool, elevated WBC, falling platelet counts, death.

DiarrheaDiarrhea

Acute Chronic

Acute DiarrheaAcute DiarrheaMost commonly

from viral or bacterial gastroenteritis.

Rotovirus is the primary cause of severe diarrhea in children.

Risk factors/causes: Acute diarrhea

Bacterial gastroenteritis, antibiotic therapy, appendicitis, chemotherapy, inflammatory bowel disease, parasitic invasion, rotavirus, ingestion of toxin.

Clinical manifestations:Dehydration, electrolyte issues,

fatigue, skin breakdown from stool, abdominal pain, bloating, flatulence.

Chronic DiarrheaChronic DiarrheaOccurs with symptoms after 4

weeksMost often caused by impaired

motility, lactose intolerance, encopresis, parasitic infestation, antibiotic use, disease states that impair absorption

Risk factors/causes: Chronic diarrheaAcute diarrhea that has not been treated, increased prostaglandin synthesis, family history, irritable bowel syndrome, lactose intolerance.

Clinical manifestations:Dehydration, electrolyte issues, fatigue, skin breakdown from stool, abdominal pain, bloating, flatulence.

Disorders of the LiverDisorders of the LiverNeonatal JaundiceBiliary AtresiaHepatitisCirrhosisPortal HypertensionMetabolic Disorders

Disorders of the Biliary Disorders of the Biliary Metabolism and TransportMetabolism and Transport

Neonatal JaundiceBiliary Atresia

Neonatal JaundiceNeonatal JaundiceNeonatal jaundice is typically a

temporary benign icterus from a high level unconjugated hyperbilirubinemia.

Pathologic jaundice can cause brain damage. Premature infants are at risk.

Risk factors/causes: Neonatal jaundicePremature infants as well as full term (initially transient and benign).

Clinical Manifestations:Yellowish discoloration to tissue, increased bilirubin values, if not treated-respiratory distress, acidosis, sepsis, encephalopathy, athetoid cerebral palsy, speech and hearing impairment.

Biliary AtresiaBiliary AtresiaRare congenital malformation

where there is an absence or obstruction of intrahepatic or extrahepatic ducts.

Jaundice, hepatomegaly, and alcoholic (clay colored) stool are primary signs.

Cirrhosis and liver failure lead to death if untreated.

Risk factor/causes: Biliary Atresia

Congenital chromosomal abnormality

Clinical manifestations:Jaundice, bile duct destruction, biliary

cirrhosis, portal hypertension, liver failure, hepatomegaly, acholic stool, death.

Inflammatory DisordersInflammatory Disorders

HepatitisCirrhosis

HepatitisHepatitisHepatitis A in children account for all

reported cases. Normally self limiting with full recovery.

Hepatitis B occur in infants from mothers who carry the hepatitis B surface antigen, hemophiliacs, IV drug users, institutionalized children.

Hepatitis C is caused mostly from blood transfusions.

Chronic Hepatitis unknown etiology; possibly autoimmune deficiency.

Interferon has been effective in treating Hepatitis B and C (and managing some chronic hepatitis.

Risk factor Risk factor Clinical Clinical

ManifestationManifestation

Hepatitis A Preschool age, poor hygiene nausea, vomiting, diarrhea

Hepatitis B drug users, hemophilia n/v/d, cirrhosis, institutionalized children liver cancer

Hepatitis C blood transfusions n/v/d, chronic liverdisease

Chronic Hepatitis autoimmune related malaise, anorexia, fever, GI bleeding, hepatomegaly, edema, pain, liver impairment

impairment

CirrhosisCirrhosisExcessive formation of fibrous

tissue in response to inflammation and tissue damage.

Most chronic liver diseases in children can progress to cirrhosis

Complications: portal hypertension, opening of collateral vessels, and varices.

Risk factors/causes: CirrhosisChronic liver disease

Clinical manifestations:Portal hypertension, varices, FTT,

developmental delay, nutritional deficit, gross motor development delay due to ascites and weakness.

Portal HypertensionPortal HypertensionTwo basic causes

1) Increased resistance to blood flow with the portal system

2) Increased volume of portal flow

Two type of Portal Two type of Portal HypertensionHypertensionExtrahepatic portal hypertension

is most often caused by obstruction in children (thrombosis in the portal vein). The liver is usually normal.

Intrahepatic portal hypertension is most often caused by cirrhosis. The most common finding is fibrosis which restricts resistance to blood flow.

Risk factor/causes: Portal HypertensionCirrhosis, intraabdominal infection or trauma, portal vein thrombosis, congenital anomalies, pancreatitis, hepatic fibrosis, neonatal dehydration, inflammatory bowel disease, and hypercoagulable states.

Clinical manifestations:Splenomegaly, upper GI bleeding, ascites, hepatic encephalopathy, hematemesis, hypoalbuminemia, prolonged porthrombin times, hyperbilirubinemia, electrolyte imbalance, hypoglycemia, rupture of esophageal varices could lead to death.

Metabolic DisordersMetabolic DisordersWilson’s Disease

(hepatolenticular degeneration) is a rare autosomal recessive defect that causes copper to accumulate in the liver, brain, kidneys and corneas.

Risk factor/causes: Wilson’s diseaseAutosomal recessive defect of copper metabolism

Clinical manifestations:Progessive liver disease, intention tremors, dysarthria, dystonia, Kayser-Fleischer rings, cirrhosis, low ceruloplasmin, malaise, abdominal pain, jaundice, anorexia, edema, enlargement of spleen and liver, ascites, occasional hemolytic crisis, if untreated will develop behavioral or psychiatric disorders.