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Acute and chronic Acute and chronic diarrhoea in childhooddiarrhoea in childhood
A/Prof Katie Allen, A/Prof Katie Allen, Department of GastroenterologyDepartment of GastroenterologyDepartment of AllergyDepartment of AllergyRCHRCH
Diarrhoea, vomiting and Diarrhoea, vomiting and dehydration in childhooddehydration in childhood
Talk OverviewTalk Overview
What is the definition of diarrhoeaWhat is the definition of diarrhoeaWhat are the mechanisms of What are the mechanisms of diarrhoeadiarrhoeaWhat are the causes of vomiting What are the causes of vomiting What are the causes of vomiting What are the causes of vomiting and diarrhoeaand diarrhoeaAcute versus chronic diarrhoeaAcute versus chronic diarrhoeaDiscussion of common diarrhoeal Discussion of common diarrhoeal conditions (acute and chronic)conditions (acute and chronic)Management of dehydration and Management of dehydration and acute diarrhoeaacute diarrhoea
Diarrhoeal disease in childhoodDiarrhoeal disease in childhood
2 million deaths annually worldwide2 million deaths annually worldwide15% of all child deaths15% of all child deaths•• 6% of child deaths in Europe6% of child deaths in Europe•• 18% of all child deaths in SE Asia18% of all child deaths in SE Asia
>90% of all deaths occur in developing >90% of all deaths occur in developing nationsnations
What is diarrhoea ?What is diarrhoea ?
It is an increase in the frequency, It is an increase in the frequency, volume and fluid content of stoolvolume and fluid content of stoolWhat is normal ? What is normal ?
Breast fedBreast fed babies can pass 1 stool q babies can pass 1 stool q Breast fedBreast fed babies can pass 1 stool q babies can pass 1 stool q 10/7 or 10 stools/day, 10/7 or 10 stools/day,
bottle fedbottle fed infants pass 2infants pass 2--3 pasty stools 3 pasty stools per day and per day and
older childrenolder children 11--2 formed stools /day 2 formed stools /day or 1 stool q 2/7 or 1 stool q 2/7
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Gastrointestinal absorptionGastrointestinal absorption
Causes of acute diarrhoea and Causes of acute diarrhoea and vomitingvomiting
Gastrointestinal infectionsGastrointestinal infectionsFood poisoningFood poisoningMechanical Mechanical •• obstruction, intussusceptionobstruction, intussusception
AppendicitisAppendicitisHaemolytic Uraemic SyndromeHaemolytic Uraemic SyndromeOther infectionOther infection•• UTI, sepsisUTI, sepsis
Food allergy (cow’s milk intolerance, Coeliac)Food allergy (cow’s milk intolerance, Coeliac)
Remember medications can cause Remember medications can cause diarrhoeadiarrhoea
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Causes of acute Causes of acute vomitingvomiting
All the aboveAll the abovePyloric stenosisPyloric stenosisAppendicitisAppendicitisRaised intracranial pressureRaised intracranial pressureMeningitisMeningitisMetabolic diseaseMetabolic disease
Infectious diarrhoeaInfectious diarrhoea
ViralViral•• Rotavirus, adenovirus, small round virusesRotavirus, adenovirus, small round viruses
BacterialBacterialC l b t j j iC l b t j j i•• Campylobacter jejuniCampylobacter jejuni
•• Shigella, Salmonella, S aureus, Clostridium Shigella, Salmonella, S aureus, Clostridium perfringens, E coliperfringens, E coli
ParasiticParasitic•• Giardia, CryptosporidiaGiardia, Cryptosporidia
History of travel and exposure to History of travel and exposure to unsecured water supply is unsecured water supply is
important to obtainimportant to obtain
Mechanisms of acute infectious Mechanisms of acute infectious diarrhoeadiarrhoea
Villus damageVillus damage•• virusesviruses
Enterotoxin productionEnterotoxin production•• V choleraeV cholerae, ETEC, Salmonella, , ETEC, Salmonella, C jejuni, S aureus, Cl C jejuni, S aureus, Cl
perfringens, Cl difficile, Y enterocoliticaperfringens, Cl difficile, Y enterocolitica
AdherenceAdherence•• EPEC, EPEC, G lamblia, Y enterocoliticaG lamblia, Y enterocolitica
Cytotoxin productionCytotoxin production•• STEC, STEC, S dysenteriae, C jejuni, Cl difficileS dysenteriae, C jejuni, Cl difficile
InvasionInvasion•• EIEC, EIEC, C jejuniC jejuni, Cryptosporidium, , Cryptosporidium, Y enterocoliticaY enterocolitica
RotavirusRotavirus
WheelWheel--like like DoubleDouble--stranded RNAstranded RNA
80nm diameter80nm diameter~80nm diameter~80nm diameter
Photo: FP Williams, US EPA
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Rotavirus Rotavirus -- epidemiologyepidemiology
Most common cause of diarrhoeal illness Most common cause of diarrhoeal illness in childrenin children600,000 deaths/year worldwide600,000 deaths/year worldwideM t lit 0 5%M t lit 0 5% d h d tid h d tiMortality <0.5% Mortality <0.5% -- dehydrationdehydration
Autumn and winter monthsAutumn and winter monthsAll children exposed by age 5All children exposed by age 5
Rotavirus Rotavirus -- PathophysiologyPathophysiology
Damage to tips of villus cells, leading to:Damage to tips of villus cells, leading to:
•• Loss of absorptive capacityLoss of absorptive capacitywater and electrolyte transport linked to glucosewater and electrolyte transport linked to glucosewater and electrolyte transport linked to glucose water and electrolyte transport linked to glucose and amino acid cotransporters on luminal surface and amino acid cotransporters on luminal surface of enterocyteof enterocyte
•• Loss of digestive capacityLoss of digestive capacitydisaccharidases on cell surfacedisaccharidases on cell surface
Rotavirus Rotavirus -- Clinical featuresClinical features
Most prominent in 6Most prominent in 6--24 months age group24 months age groupIncubation 2Incubation 2--3 days3 daysMay be coryzal prodromeMay be coryzal prodromeFeverFeverVomiting and DiarrhoeaVomiting and Diarrhoea
Diagnosis confirmed by stool immunoflouresenceDiagnosis confirmed by stool immunoflouresence
Other viral gastroenteritisOther viral gastroenteritis
AdenovirusAdenovirusNot seasonal, more prolonged diarrhoeaNot seasonal, more prolonged diarrhoea
Small round virusesSmall round viruses•• AstrovirusAstrovirus•• AstrovirusAstrovirus
Milder than rotavirusMilder than rotavirus•• CalicevirusCalicevirus
Localised outbreaks in older children. Short Localised outbreaks in older children. Short incubation period and duration of symptomsincubation period and duration of symptoms
Other infectious cause?Other infectious cause?
Unlikely to be viral gastroenteritis if:Unlikely to be viral gastroenteritis if:•• Bloody stoolBloody stool
S t i illS t i ill•• Severe systemic illnessSevere systemic illness•• Severe abdominal painSevere abdominal pain•• Prominent / bilious / projectile vomitingProminent / bilious / projectile vomiting•• Prolonged history (> 2 weeks)Prolonged history (> 2 weeks)
Causes of bloody diarrhoeaCauses of bloody diarrhoea
Infectious colitis (eg salmonella) Infectious colitis (eg salmonella) (any age)(any age)Allergic colitis and gastroenteritis (< Allergic colitis and gastroenteritis (< Allergic colitis and gastroenteritis (< Allergic colitis and gastroenteritis (< 6 mth old) (eg food protein induced 6 mth old) (eg food protein induced enterocolitits)enterocolitits)Inflammatory bowel disease (> 2yo) Inflammatory bowel disease (> 2yo) (Crohn’s disease, ulcerative colitis)(Crohn’s disease, ulcerative colitis)Meckel’s diverticulumMeckel’s diverticulum
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Chronicity of presentation is Chronicity of presentation is importantimportant
Acute presentation (1Acute presentation (1--5 days)5 days)usually viral and selfusually viral and self--limitinglimiting
Subacute presentation (1Subacute presentation (1--2 weeks)2 weeks)think giardia and bacterial gastrothink giardia and bacterial gastro
Chronic presentation (weeksChronic presentation (weeks--months)months)consider food allergy (including consider food allergy (including
Coeliac disease), lactose intoleranceCoeliac disease), lactose intolerance
Management of dehydrationManagement of dehydration
Management of diarrhoea and Management of diarrhoea and vomitingvomiting
Assess whether acute or chronicAssess whether acute or chronic
If If acuteacute: assess whether surgical or : assess whether surgical or gginfectious infectious -- if acute then management if acute then management of hydration and metabolites is keyof hydration and metabolites is key
If If chronic:chronic: assess whether failure to assess whether failure to thrive or not thrive or not –– if chronic then if chronic then management of weight and management of weight and micronutrients is keymicronutrients is key
DehydrationDehydrationClinical signsClinical signs•• Recent weight lossRecent weight loss•• Skin turgorSkin turgor•• Peripheral perfusionPeripheral perfusion•• Peripheral perfusionPeripheral perfusion•• Dry mucous membranesDry mucous membranes•• Sunken eyesSunken eyes•• Sunken fontanelleSunken fontanelle•• Acidotic breathingAcidotic breathing•• AcidosisAcidosis•• Tachycardia and hypotensionTachycardia and hypotension
DehydrationDehydrationMild (<4%) Moderate (4-6%) Severe (>6%)
Appearance Alert Restless, irritable Lethargic
Skin turgor Normal Slow (1-2s) Very slow (>2s)
Perfusion Normal Cool ColdPerfusion Normal Cool Cold
M membranes Moist Dry Dry
Eyes Normal Sunken Sunken
Breathing Normal Normal Deep acidotic
Blood pressure Normal Normal Hypotension
Heart rate Normal Normal Rapid, feeble
Treatment of dehydrationTreatment of dehydration
Treat shockTreat shockOral rehydration in mild or moderately Oral rehydration in mild or moderately dehydrateddehydrated
O l h d ti l ti i th NGO l h d ti l ti i th NG•• Oral rehydration solution via mouth or NG Oral rehydration solution via mouth or NG tubetube
•• Continue to feed in additionContinue to feed in addition
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Oral Rehydration SolutionsOral Rehydration Solutions
Salt and sugar solutions utilise glucoseSalt and sugar solutions utilise glucose--linked cotransporter in small intestinelinked cotransporter in small intestine
E t t
Na
Glucose
Lumen Enterocyte
Oral Rehydration TherapyOral Rehydration Therapy
Mild / no dehydration:Mild / no dehydration:•• Increase frequency of usual fluidsIncrease frequency of usual fluids•• frequent, small volume drinksfrequent, small volume drinks•• Avoid hypertonic solutions (fruit juice fizzyAvoid hypertonic solutions (fruit juice fizzy•• Avoid hypertonic solutions (fruit juice, fizzy Avoid hypertonic solutions (fruit juice, fizzy
drinks)drinks)•• Avoid lowAvoid low--calorie drinkscalorie drinks
Oral Rehydration TherapyOral Rehydration Therapy
Moderate dehydration:Moderate dehydration:•• NasogastricNasogastric•• Calculate fluid deficit and fluid requirementCalculate fluid deficit and fluid requirement•• Replace deficit over 6 hoursReplace deficit over 6 hours•• Replace deficit over 6 hoursReplace deficit over 6 hours•• Give daily maintenance (full 24 hour Give daily maintenance (full 24 hour
requirement) over next 18 hoursrequirement) over next 18 hours•• Allow for ongoing losses (diarrhoea)Allow for ongoing losses (diarrhoea)•• Continue to offer food and usual drinksContinue to offer food and usual drinks
Photo: Trevor Duke, RCH
Rehydration TherapyRehydration Therapy
Severe dehydrationSevere dehydration•• Intravenous accessIntravenous access•• Intravenous fluid resuscitationIntravenous fluid resuscitation
20ml/Kg 0 9% NaCl20ml/Kg 0 9% NaCl20ml/Kg 0.9% NaCl20ml/Kg 0.9% NaClRepeat to restore circulationRepeat to restore circulation
•• Rehydration Rehydration -- oral/intravenousoral/intravenousORS or 0.45% NaCl, 5% Dextrose, 20mmol/l ORS or 0.45% NaCl, 5% Dextrose, 20mmol/l KClKClDeficit over 6 hoursDeficit over 6 hoursMaintenance amount over next 18 hoursMaintenance amount over next 18 hours
Rehydration therapyRehydration therapy
Severe dehydration (continued)Severe dehydration (continued)
•• Check electrolytes and acidCheck electrolytes and acid--base in base in severely dehydrated childrenseverely dehydrated childrenseverely dehydrated childrenseverely dehydrated childrenchildren with altered conscious statechildren with altered conscious statethe very youngthe very youngthose with other abnormalitiesthose with other abnormalities
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Photo: Trevor Duke, RCH
Rehydration therapyRehydration therapy
Calculation exampleCalculation example•• 10 Kg infant, moderately dehydrated10 Kg infant, moderately dehydrated•• Deficit over 6 hoursDeficit over 6 hours
5% f b d i ht 0 5K5% f b d i ht 0 5K5% of body weight = 0.5Kg5% of body weight = 0.5Kg= 500ml= 500ml500ml in 6 hours = 84ml/hr500ml in 6 hours = 84ml/hr
•• 24 hour maintenance over 18 hours24 hour maintenance over 18 hours100ml/Kg = 1000ml100ml/Kg = 1000ml1000ml in 18 hours = 55ml/hr1000ml in 18 hours = 55ml/hr
Other treatmentsOther treatments
Antibiotic treatment is rarely necessaryAntibiotic treatment is rarely necessary•• ShigellaShigella•• YersiniaYersinia•• GiardiaGiardiaGiardiaGiardia•• Cl difficileCl difficile•• (Campylobacter)(Campylobacter)•• (Salmonella)(Salmonella)
Antiemetics not usefulAntiemetics not usefulAntidiarrhoeals not usefulAntidiarrhoeals not useful
Family and contact hygeine is Family and contact hygeine is importantimportant
Metabolic derangementMetabolic derangement
Metabolic acidosisMetabolic acidosis•• ketosis, bicarbonate loss, inadequate tissue ketosis, bicarbonate loss, inadequate tissue
perfusionperfusionHypernatraemia (Na >150mmol/l)Hypernatraemia (Na >150mmol/l)Hypernatraemia (Na >150mmol/l)Hypernatraemia (Na >150mmol/l)•• Excessive water loss, Na administrationExcessive water loss, Na administration
Hyponatraemia (Na < 130mmol/l)Hyponatraemia (Na < 130mmol/l)•• Excessive water administration, Na lossExcessive water administration, Na loss
Criteria for admissionCriteria for admission
ShockShockModerate or severe dehydrationModerate or severe dehydrationComplicatedComplicated•• Hyper/hyponatraemia, short gut syndrome, Hyper/hyponatraemia, short gut syndrome,
immunocompromised hostimmunocompromised hostVery youngVery youngSocial concernsSocial concerns
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Reasons to think againReasons to think again
Bilious, bloodstained or projectile vomitingBilious, bloodstained or projectile vomitingAbdominal distension, tendernessAbdominal distension, tendernessHigh feverHigh feverPersistent tachycardia or hypotensionPersistent tachycardia or hypotension
Overview of treatment for acute Overview of treatment for acute diarrhoeal diseasediarrhoeal disease
ResuscitationResuscitationDiagnosisDiagnosisAssessment of hydrationAssessment of hydrationStart rehydrationStart rehydrationAdmit to hospital?Admit to hospital?Continue feedsContinue feedsReassessReassess
Photo: Trevor Duke, RCHPhoto: Trevor Duke, RCH
Chronic DiarrhoeaChronic Diarrhoea
OverviewOverview
Physiology of GI absorptionPhysiology of GI absorptionDefinition of chronic diarrhoeaDefinition of chronic diarrhoeaCategories of causesCategories of causesAlgorithm for diagnosisAlgorithm for diagnosisSpecific diseases Specific diseases Practical tipsPractical tips
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Review GI physiology in GanongReview GI physiology in Ganong
Gastrointestinal absorptionGastrointestinal absorption Fat digestion and absorptionFat digestion and absorption
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Mechanism of Mechanism of abetalipoproteinaemiaabetalipoproteinaemia
Protein digestion and absorptionProtein digestion and absorption Digestion of carbohydratesDigestion of carbohydrates
What is diarrhoea ?What is diarrhoea ?
It is an increase in the frequency, It is an increase in the frequency, volume and fluid content of stoolvolume and fluid content of stoolWhat is normal ? What is normal ?
Breast fedBreast fed babies can pass 1 stool q babies can pass 1 stool q Breast fedBreast fed babies can pass 1 stool q babies can pass 1 stool q 10/7 or 10 stools/day, 10/7 or 10 stools/day,
bottle fedbottle fed infants pass 2infants pass 2--3 pasty stools 3 pasty stools per day and per day and
older childrenolder children 11--2 formed stools /day 2 formed stools /day or 1 stool q 2/7 or 1 stool q 2/7
NORMAL STOOLS IN INFANTSNORMAL STOOLS IN INFANTS
1st week 8-28 days 1-12 mth 13-24 mth
No. / 24 hr Range
4.0 1-12
2.2 0-6
1.8 0-5
1.7 0-3
Mean wt Range (g)
4.3 0.5-48
11 0.3-40
17 2-98
35 4-180
Stool water 73% 73% 75% 74%
Lemoh and Brooke
Arch Dis Childh
1979, 54:719
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Definition of Chronic DiarrhoeaDefinition of Chronic Diarrhoea
History of diarrhoea >2/52History of diarrhoea >2/52Aetiology is based on physiological Aetiology is based on physiological principles and include osmotic, secretory, principles and include osmotic, secretory, inflammatory or GI dysmotilityinflammatory or GI dysmotilityy y yy y yCan result in electrolyte and nutritional Can result in electrolyte and nutritional deficienciesdeficienciesToddlers Diarrhoea and Overflow Toddlers Diarrhoea and Overflow constipation (less common now) are the constipation (less common now) are the commonest causes commonest causes
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Fat globules implies impaired Fat globules implies impaired digestiondigestion Impaired intraluminal digestion IImpaired intraluminal digestion I
Affecting Affecting allall nutrientsnutrientsCYSTIC FIBROSISCYSTIC FIBROSIS
Shwachman syndrome (panc hypoplasia Shwachman syndrome (panc hypoplasia Shwachman syndrome (panc hypoplasia, Shwachman syndrome (panc hypoplasia, neutropenia and metaphysial chondrodysplasia)neutropenia and metaphysial chondrodysplasia)
JohansonJohanson--Blizzard syndromeBlizzard syndromePearson syndromePearson syndromeCystinosisCystinosis
Impaired intraluminal digestion IIImpaired intraluminal digestion II
Affecting Affecting fatfat absorptionabsorptionBiliary atresiaBiliary atresiaImpaired enterohepatic circ Impaired enterohepatic circ •• (eg ileal resection or Crohn’s disease)(eg ileal resection or Crohn’s disease)
Blind loopBlind loop
Isolated lipase or colipase defyIsolated lipase or colipase defyImpaired bile acid synthesisImpaired bile acid synthesis
Impaired intraluminal digestion IIIImpaired intraluminal digestion III
Affecting Affecting proteinsproteinsCongenital trypsinogen defyCongenital trypsinogen defyCongenital enterokinase defyCongenital enterokinase defy
Fatty acid crystals implies impaired Fatty acid crystals implies impaired absorption absorption –– capable of partial hydrolysiscapable of partial hydrolysis
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OsmoticOsmoticNa<70mEq/litreNa<70mEq/litreOsmolality> (Na+K)x2Osmolality> (Na+K)x2pH <5pH <5
SecretorySecretoryNa>70mEq/litreNa>70mEq/litreOsmolality=(Na+K)x2Osmolality=(Na+K)x2pH>6pH>6
Differentiating between Osmotic Differentiating between Osmotic and Secretory Diarrhoeaand Secretory Diarrhoea
Reducing substancesReducing substancesVolume<200ml/dayVolume<200ml/dayCeases when oral Ceases when oral intake is stoppedintake is stopped
No reducing No reducing substancessubstancesVolume>200ml/dayVolume>200ml/day
Differential Diagnosis of Differential Diagnosis of SecretorySecretoryDiarrhoeaDiarrhoea
Infection with Infection with toxigenic toxigenic organisms organisms (e.g., (e.g., Cholera, Cholera, E. Coli,E. Coli, Salmonella Salmonella ))
S titi d S titi d
Bile acid Bile acid malabsorptionmalabsorptionCongenital Congenital electrolyte electrolyte
Surreptitious drug Surreptitious drug administration administration e.g., e.g., laxativeslaxatives
yytransport defecttransport defectHormoneHormone--secreting tumours secreting tumours e.g., VIPoma, e.g., VIPoma, Gastrinoma,Carcinoid, Gastrinoma,Carcinoid, PheochromocytomaPheochromocytoma
MastocytosisMastocytosis
Differential Diagnosis of Differential Diagnosis of OsmoticOsmoticDiarrhoeaDiarrhoea
Osmotic LaxativesOsmotic LaxativesCHO malabsorption CHO malabsorption e.g., Glue.g., Glu--Gal transport Gal transport defect, lactase and defect, lactase and isomaltaseisomaltase--sucrase sucrase
GI infectionsGI infectionsCoeliac diseaseCoeliac diseaseCMP/Soy allergyCMP/Soy allergyInflammatory diseases Inflammatory diseases
isomaltaseisomaltase sucrase sucrase deficiencydeficiencyOverfeeding (<6mth)Overfeeding (<6mth)
AutoAuto--immune immune enteropathyenteropathyBacterial overgrowthBacterial overgrowth
AbetaliproteinaemiaAbetaliproteinaemialymphangiectasialymphangiectasia
SUGAR MALABSORPTIONSUGAR MALABSORPTION
Average diet 350 g CHOAverage diet 350 g CHOAssume 5% gets to colonAssume 5% gets to colon18 g monosaccharides = 18 g monosaccharides = 95 O95 O95mOsm95mOsm•• drags drags 300 ml300 ml waterwater
LACTOSE MALABSORPTION
GLUCOSE
LACTOSElactase
+GALACTOSE
* USING GLUCOSE BY-PASSES NEED FOR LACTASE
* NO NEED TO CHANGE PROTEIN OR FAT
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Lactose intoleranceLactose intolerance
Primary (congenital) Primary (congenital) –– rarerare
Secondary (acquired)Secondary (acquired)T T tt i f ti d t i f ti d t •• Temporary Temporary –– postpost--infectious damage to infectious damage to villous (eg rotavirus or giardia)villous (eg rotavirus or giardia)
•• Permanent Permanent –– 97% of Africans and 97% of Africans and AsiansAsians
Coeliac DiseaseCoeliac Disease
A disease of the proximal SI characterised A disease of the proximal SI characterised by an abnormal small intestinal mucosa by an abnormal small intestinal mucosa and associated with a permanent and associated with a permanent intolerance to glutenintolerance to glutenNot seen in Asian and infrequent in the Not seen in Asian and infrequent in the Black populationBlack populationIncidence 1 in 300 in Ireland and 1 in 500 Incidence 1 in 300 in Ireland and 1 in 500 in Australia (seroprev 1%)in Australia (seroprev 1%)DQ2,7 can be used for family screeningDQ2,7 can be used for family screening
PathogenesisPathogenesis
Gluten induced T cell mediated Gluten induced T cell mediated immune response within the lamina immune response within the lamina propria following a yet to be defined propria following a yet to be defined sensitization processsensitization processsensitization processsensitization processHumoral immunity appears to play a Humoral immunity appears to play a limited role in the pathogenesis of limited role in the pathogenesis of this disorderthis disorderWheat, rye, barley (unlikely oats) Wheat, rye, barley (unlikely oats)
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ESPGHAN CRITERIA 1969, 1974ESPGHAN CRITERIA 1969, 1974
ABNORMAL MUCOSA ON GLUTENABNORMAL MUCOSA ON GLUTEN
HISTOLOGICAL RESPONSE TO GLUTENHISTOLOGICAL RESPONSE TO GLUTEN--FREE FREE DIETDIETDIETDIET
HISTOLOGICAL RELAPSE ON GLUTEN HISTOLOGICAL RELAPSE ON GLUTEN CHALLENGECHALLENGE
ESPGHAN CRITERIA 1990ESPGHAN CRITERIA 1990
ABNORMAL MUCOSA ON GLUTENABNORMAL MUCOSA ON GLUTEN
FULL CLINICAL REMISSION ON DIETFULL CLINICAL REMISSION ON DIET
Exceptions where diagnostic doubt:Exceptions where diagnostic doubt:•• < 2 years of age at presentation< 2 years of age at presentation•• asymptomatic: family members asymptomatic: family members
diabetes diabetes short short
staturestature
Clinical PresentationClinical Presentation
Chronic diarrhoea, FTT 9Chronic diarrhoea, FTT 9--18 months 18 months of age and before 9 months presents of age and before 9 months presents with mainly vomitingwith mainly vomitingConstipation in 10%Constipation in 10%Constipation in 10%Constipation in 10%Short stature, anaemia, personality Short stature, anaemia, personality problemsproblems
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Atypical PresentationAtypical PresentationNeurologicalNeurological: Seizures in 5% of adults, : Seizures in 5% of adults,
cerebellar ataxia, dementia, peripheral cerebellar ataxia, dementia, peripheral neuropathy, myopathy, cerebral neuropathy, myopathy, cerebral calcification and folate deficiency calcification and folate deficiency
Dermatitis Herpetiformis:Dermatitis Herpetiformis:chronic pruritic papulovesicular rash over chronic pruritic papulovesicular rash over
extensor surfaces and Ig A deposits in the extensor surfaces and Ig A deposits in the skin with mild biopsy findingsskin with mild biopsy findings
Elevated transaminase levelsElevated transaminase levels
Clinical AssociationsClinical Associations
Immune: Ig A deficiency, IDDM, Immune: Ig A deficiency, IDDM, Thyroiditis, CAH, Ig A nephropathy, Thyroiditis, CAH, Ig A nephropathy, fibrosing alveolitis, CMP enteropathyfibrosing alveolitis, CMP enteropathy
Other: Down syndrome, CF, Other: Down syndrome, CF, AlphaAlpha--11--antitrypsin deficiency, antitrypsin deficiency,
Screening testsScreening tests
Antigliadin Abs: IgA(specific) and Antigliadin Abs: IgA(specific) and IgG(sensitive) with false positive results in IgG(sensitive) with false positive results in GI infections, IBD and other allergic GI infections, IBD and other allergic disordersdisordersAntiAnti--endomysial (IgA based) quoted as endomysial (IgA based) quoted as having a sensitivity and specificity having a sensitivity and specificity approaching 97%approaching 97%AntiAnti--tissue transglutaminase sensitivity tissue transglutaminase sensitivity and specificity of 98%, again IgA based and specificity of 98%, again IgA based assayassay
DiagnosisDiagnosis
Abnormal SI mucosaAbnormal SI mucosaClinical response to glutenClinical response to gluten--free dietfree diet3 biopsies rarely required unless 3 biopsies rarely required unless th i d bt di th D th i d bt di th D there is doubt surrounding the Dx, there is doubt surrounding the Dx, less then 2 yrs at time of diagnosis, less then 2 yrs at time of diagnosis, no previous biopsy and teenagers no previous biopsy and teenagers who plan to start a normal dietwho plan to start a normal diet
LongLong--term complicationsterm complications
OsteoporosisOsteoporosisMalignant GI disease: Birmingham Malignant GI disease: Birmingham study demonstrated an increased study demonstrated an increased risk of lymphoma GI cancer and risk of lymphoma GI cancer and risk of lymphoma, GI cancer and risk of lymphoma, GI cancer and other malignancyother malignancyGluten free and not reduced gluten Gluten free and not reduced gluten containing diet protected against the containing diet protected against the development of these malignancies development of these malignancies
Lactose intoleranceLactose intolerance
Primary (congenital) Primary (congenital) –– rarerare
Secondary (acquired)Secondary (acquired)T T tt i f ti d t i f ti d t •• Temporary Temporary –– postpost--infectious damage to infectious damage to villous (eg rotavirus or giardia)villous (eg rotavirus or giardia)
•• Permanent Permanent –– 97% of Africans and 97% of Africans and AsiansAsians
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LACTOSE MALABSORPTION
GLUCOSE
LACTOSElactase
+GALACTOSE
* USING GLUCOSE BY-PASSES NEED FOR LACTASE
* NO NEED TO CHANGE PROTEIN OR FAT
Coeliac DiseaseCoeliac Disease
A disease of the proximal SI A disease of the proximal SI characterised by an abnormal small characterised by an abnormal small intestinal mucosa and associated intestinal mucosa and associated with a permanent intolerance to with a permanent intolerance to glutenglutenNot seen in Asian and infrequent in Not seen in Asian and infrequent in the Black populationthe Black populationIncidence 1 in 300 in Ireland and 1 Incidence 1 in 300 in Ireland and 1 in 500 in Australiain 500 in Australia
Clinical PresentationClinical Presentation
Chronic diarrhoea, FTT 9Chronic diarrhoea, FTT 9--18 months 18 months of age Constipation in 10%of age Constipation in 10%Short stature, anaemia, irritability, Short stature, anaemia, irritability, dental hypoplasiadental hypoplasiadental hypoplasiadental hypoplasia
Cows milk protein allergyCows milk protein allergy2% of children <2yo2% of children <2yoUsually occurs with within days to weeks Usually occurs with within days to weeks of starting cow’s milk (eg formula)of starting cow’s milk (eg formula)Can occur in breast fed babiesCan occur in breast fed babiesSymptoms of diarrhoea, vomiting, Symptoms of diarrhoea, vomiting, irritability, ezcemairritability, ezcemaUsually settles with extensively hydrolysed Usually settles with extensively hydrolysed formula (eg Peptijunior, Alfare)formula (eg Peptijunior, Alfare)1010--20% also intolerant of soy formula20% also intolerant of soy formula
Bacterial OvergrowthBacterial OvergrowthColonic flora proliferate in the SI in areas Colonic flora proliferate in the SI in areas of stasis and leads to a clinical syndrome of stasis and leads to a clinical syndrome characterized by anaemia and steatorrheacharacterized by anaemia and steatorrhea
F t di i t th d l t F t di i t th d l t Factors predisposing to the development Factors predisposing to the development of bacterial overgrowth include anatomical of bacterial overgrowth include anatomical abnormalities, motility disorders, excess abnormalities, motility disorders, excess bacterial load (e.g., achlorhydria, fistula bacterial load (e.g., achlorhydria, fistula and loss ileocaecal valve) and abnormal and loss ileocaecal valve) and abnormal host defence host defence
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Clinical FeaturesClinical Features
ClassicClassic: fat malabsorption and : fat malabsorption and anaemiaanaemia
SystemicSystemic: Arteritis vesicopustular : Arteritis vesicopustular SystemicSystemic: Arteritis, vesicopustular : Arteritis, vesicopustular rash, Raynaud’s, nephritis, hepatitisrash, Raynaud’s, nephritis, hepatitis
OtherOther: Weight loss, short stature, : Weight loss, short stature, abdominal pain, PLE, osteomalacia, abdominal pain, PLE, osteomalacia, night blindness and ataxia night blindness and ataxia
Diagnostic testsDiagnostic tests
RadiologyRadiologyLaboratory: 72Laboratory: 72--hr faecal fat and hr faecal fat and Sudan stain for fatSudan stain for fatNN I i B th t tI i B th t tNonNon--Invasive: Breath testsInvasive: Breath testsInvasive: Duodenal aspiration and Invasive: Duodenal aspiration and cultureculture
The practical reality of chronic The practical reality of chronic diarrhoeadiarrhoea
A good history is invaluable!A good history is invaluable!
TypeType –– fluidity, number, size, colour and smellfluidity, number, size, colour and smell
Liquid stools in congenital chloride diarrhoeaLiquid stools in congenital chloride diarrhoeaNoisily with flatus in cases of sugar malabsorptionNoisily with flatus in cases of sugar malabsorptionLoose and bulky in Coeliac diseaseLoose and bulky in Coeliac diseaseLoose and bulky in Coeliac diseaseLoose and bulky in Coeliac diseasePasty, yellowish and cheesy smell in exocrine pancreatic Pasty, yellowish and cheesy smell in exocrine pancreatic insufficiencyinsufficiencyAcidic smell due to fermentationAcidic smell due to fermentationOffensive smell in Coeliac diseaseOffensive smell in Coeliac diseaseUndigested food, foul smelling, alt with normal stools in Undigested food, foul smelling, alt with normal stools in well nourished toddler in Toddler’s diarrhoeawell nourished toddler in Toddler’s diarrhoea
HistoryHistory
TimingTimingNeonatal (congenital causes)Neonatal (congenital causes)Introduction or elimination of cow’s Introduction or elimination of cow’s
ilk t i h t l t ilk t i h t l t milk proteins, wheat, lactose or milk proteins, wheat, lactose or sucrosesucrose
5/01/2011
20
Causes of neonatal diarrhoeaCauses of neonatal diarrhoeaCongenital lactase deficiencyCongenital lactase deficiencyCongenital glucoseCongenital glucose--galactose deficiencygalactose deficiencyCongenital chloride diarrhoeaCongenital chloride diarrhoeaCongenital bileCongenital bile--acid malabsorptionacid malabsorptionCongenital defecti e jej nal Na/H Congenital defecti e jej nal Na/H Congenital defective jejunal Na/H Congenital defective jejunal Na/H exchangeexchangeCongenital enterokinase deficiencyCongenital enterokinase deficiencyCongenital microvillous atrophyCongenital microvillous atrophyIntestinal pseudoIntestinal pseudo--obstructionobstructionHirschsprung’s diseaseHirschsprung’s disease
HistoryHistory
Associated symptomsAssociated symptomsAnorexia (intestinal malabsorption)Anorexia (intestinal malabsorption)Increased appetite (CF)Increased appetite (CF)Thirst (severe and fluid diarrhoea)Thirst (severe and fluid diarrhoea)Abdominal pain, bloating Abdominal pain, bloating (fermentation)(fermentation)Weakness (Coeliac disease)Weakness (Coeliac disease)
What you can learn from What you can learn from one faecal specimen!one faecal specimen!
MICROSCOPYMICROSCOPYwbc, rbc, mucuswbc, rbc, mucus•• colitiscolitiscystscysts
BIOCHEMISTRYBIOCHEMISTRYReducing Reducing substancessubstancesTryptic activityTryptic activityyy
•• giardiagiardiafatty acid crystalsfatty acid crystals•• mucosal damagemucosal damagefat globulesfat globules•• pancreatitispancreatitis
•• low = low = pancreatic pancreatic insufficiencyinsufficiency
Stool electrolytesStool electrolytes•• Na > 70 = Na > 70 = active active
secretionsecretion
Other investigationsOther investigations
FBE FBE –– IBD, increased eosinophils in IBD, increased eosinophils in cow/soy milk intolerance or parasitescow/soy milk intolerance or parasitesLFTsLFTs-- assess liver disease, U/Esassess liver disease, U/EsTSH t l t h th idiTSH t l t h th idiTSH to rule out hyperthyroidismTSH to rule out hyperthyroidismBreath test Breath test –– sugar malabsorptionsugar malabsorptionBa meal and follow through Ba meal and follow through –– IBD or IBD or anatomical problemsanatomical problems
Endoscopy and biopsyEndoscopy and biopsy
To exclude:To exclude:Coeliac disease Coeliac disease GiardiaGiardiaAbetaproteinemia (fat fill enterocytes)Abetaproteinemia (fat fill enterocytes)Abetaproteinemia (fat fill enterocytes)Abetaproteinemia (fat fill enterocytes)Lymphangiectasia (villi distorted by ectatic Lymphangiectasia (villi distorted by ectatic lymphatics) lymphatics) Sensitisation to food proteins (cow, soy, Sensitisation to food proteins (cow, soy, wheat)wheat)Inflammatory bowel diseaseInflammatory bowel disease