agnieszka wegner klinika neurologii dziecięcej warszawski
Transcription
agnieszka wegner klinika neurologii dziecięcej warszawski
Jaundice, diarrhoea and other gastroenterological symptoms in childhood AG N I ESZ K A WEG N ER K LI N I K A N EURO LO G I I DZ I EC I ĘC EJ WA RSZAWSK I UNIWERSYT ET MEDYCZ NY Gastrological symptoms in children q Vomi%ng q Jaundice q Abdominalpain q Diarrhoea q Cons%pa%on VomiJng 1. Vomi%ngisthemeansbywhichtheuppergastrointes%naltractridsitselfofitscontents whenalmostanypartoftheuppertractbecomesexcessivelyirritated,overdistended,or evenoverexcitable.Vomi%ngisasymptom,presen%ngcomplaintinmul%tudeofdisorders. Rangefromgastrointes%nalpathologytodiseaseindistantorgan(o%%smediaorintracranial lesion) 2. Nausea:Theunpleasantsensa%onoftheimminentneedtovomit,usuallyreferredtothe throatorepigastrium;asensa%onthatmayormaynotul%matelyleadtotheactofvomi%ng 3. Regurgita%on:Theactbywhichfoodisbroughtbackintothemouthwithouttheabdominal anddiaphragma%cmuscularac%vitythatcharacterizesvomi%ng. VomiJng- causes Common Infant Child • Gastroenteri%s • Gastroesophageal reflux • Overfeeding • Anatomic obstruc%on • Systemicinfec%on • Pertussissyndrome • O%%smedia • Pyloricstenosis • • • • • • • Gastroenteri%s Gastri%s Reflux(GERD) Systemicinfec%on Pertussissyndrome Sinusi%s O%%smedia Adolescent • • • • • • • • • Gastroenteri%s GERD Gastri%s Inflammatorybowel disease Appendici%s Systemicinfec%on Sinusi%s Migraine Pregnancy VomiJng- causes • Rare Infant Child Adolescent • CAH • Inbornerrorof metabolism • Braintumor (increasedintracranial pressure) • Subduralhemorrhage • Foodpoisoning • Renaltubularacidosis • Reyesyndrome • Hepatitis • Pepticulcer • Pancreatitis • Braintumor • IncreasedICP • Middleeardisease • Achalasia • Cyclicvomiting Esophagealstricture • Duodenalhematoma • Inbornerrorof metabolism • Reyesyndrome • Hepatitis • Pepticulcer • Pancreatitis • Braintumor • IncreasedICP • Middleeardisease • Cyclicvomiting • Biliarycolic • Renalcolic Interview q Ageofthepa3ent q Respiratory–cough,chestdiscomfort q Dura3on/Frequency q Urinary–dysuria,hematuria q Onset q Associatedwithfoodintake ü instantly:esophagealobstruc%on ü ATerawhile:stomachorduodenalobstruc%on q Nature(projec3le/nonprojec3le) q CNS–irritability,alteredsensorium,drowsy,necks%ffness,headache, visualdisturbance q Pastmedicalhistory Anyknownmedicalillnesssuchasmetabolicinbornerror,cerebral palsy,downsyndrome,neurologicaldeficit q Colorandcontents ü Nondigestedfood:proximalobstruc%on ü Semidigestedfood:distalobstruc%on ü Billouscontent:distalto2ndpartofduodenum ü Fecalmaterial:obstruc%onatthelargeintes%ne q Drugandallergyhistory q Associatedsymptoms ü Fever/AbdominalPain/Diarrhea/cons%pa%on/dysphagia q Otherrelevanthistory Recentea%ngoutside,recenttravelling,familymemberorfriendsin schoolhavesimilarillness q Birthhistory q Nutri%onalhistory Recentlychangeintocowmilk/foodallerrgy/typeoffood VomiJng- examinaJon q Generalcondi%on § Comparisonofpa%ent’sweightbeforeandaTer onsetofillness q Hydra%onstatus § Sunkenfrontanelle § Eyessunkenandtearless § Drymucousmembrane § Prolongedcapillaryrefill%me § Reducedskinturgor § Tachycardia,tachypnea q AbdominalExamina%on ◦ Distension,Visibleperistalsis,Tenderness, hepatospelnomegaly,abdominalmasses,Bowel sounds q CNSExamina%on Power,Tone,reflexes Changesinvision q RespiratoryExamina%on,Earexamina%on Rehydrateaccordingly-encourageoralintake Correctelectrolyteimbalances Treataccordingtotheunderlyingcause Jaundice Jaundiceisayellowishpigmenta%onoftheskin,theconjunc%valmembranesoverthesclerae (whitesoftheeyes),andothermucousmembranescausedbyhighbloodbilirubinlevels. q Thecondi%onforthecrea%onofjaundiceisanincreasedbilirubinserum. q Normallevelsofbilirubininthebloodserumrangesfrom0.3-1.0mg/dl,withnearly90%of conjugatedbilirubin. q Bilirubiniscreatedinliver,spleenandbonemarrowasaproductofthecatabolismof: q hemoglobinfromerythrocytes80-85% q othercombina%onsofcompoundscontainingheme/myoglobin,cytochromes,especiallyCP-450,otherenzymes containingheme q hemoglobinderivedfromineffec%veerythropoiesis/maturingerythrocytes/ ClassificaJon of jaundices Liverplaysamailroleinbilirubinmetabolism.Therearethreestagesofbilirubinmetabolismin liver: 1. uptakeofbilirubin 2. conjuga%onwithglucuronicandsulfericacid 3. excre%onofconjugatedbilirubinintobile Classifica%onofthejaundice Pre-hepa%c/hemoly%c-Intrinsicdefectsinredbloodcellsorextrinsiccausesexternaltoredblood cells Hepa%c/hepatocellular–liverdisease Post-Hepa%c/cholesta%c-obstruc%onofbiliarypassage HemoliJc jaundice Ø Structuralerythrocytesanomalies-defects inmembrane/sicklecellanemia/, enzymopa%e,hemoglobinopathies, thalassemia Ø extrinsiccauseshaemolysis - immunological/auto-,izoan%bodies/ Diagnosis Ø FamilyhistorY,drugs, Ø weakness,worseexercisetolerance Ø normalurine,darkstools,strawyellow discolora%onoftheskin - chemical/intoxica%onPb,Cu,drugs/ Ø tachycardia,hypersplenism - mechanical/valvularprosthesis/ Ø predominanceofindirectbilirubin/unbound/ - infec%on/bacterialsespis/ Ø anemia,re%culocytosis - Hipersplenizm,metabolicaldisorders/ uricemia/ Ø amarkedincreaseinLDH,aslightincreasein transaminases Ø lackofserologicalmarkersofviralinfec%ons Unconjugated bilirubin predominance Ø Increasedproduc%on - Intra-andextravascularhemolysis - Ineffec%veerythropoiesis Ø Impaireduptakebilirubinbyhepatocytes - Sepsis,drugs,long-termhunger,hyperthyroidism Ø Imapiredconjuga%onofbilirubin - Gilbert'ssyndrome,Crigler-Najjarsyndrome,neonataljaundice Jaundice caused by congenital enzymaJc defects of hepatocytes Ø GilbertSyndrome Ø Dubin-JohnsonSyndrome Ø abnormalbindingofbilirubinwithglucuronideacid Ø secre%ondisorderassociatedbilirubinpole –deficiencyofUDPG gallhepatocytes Ø Familycharacter,thepredominanceofindirect Ø familycharacter,thepredominaneof bilirubin,normallevelsofliverenzymes,no conjugatedbilirubin, evidenceofhemolysis,bilirubinrarelyexceeds5 Ø bilinubinuria,thepresenceofthedyein mg/dl hepatocytesmelanin-like Ø Crigler-NajjarSyndrome Ø bilirubinmetabolismdefectassociatedwith deficiencyofUDPG Ø TypeI-childrendieinthefirst2yearsoflife Ø TypeII-normallevelsofenzymes,<20mg/dl bilirubin Ø predominanceofindirectbilirubin Ø RotorSyndrome Ø VarietyofDubin-Johnsonsyndrome,the absenceofthedyedepositsinhepatocytes Ø Newbornsjaundice Ø immaturityofenzyma%chepatocytesdeficiencyUDPGtransferase HepaJc jaundice- causes Ø Infec%on Ø viral:HAV,HBV,HCV,HDV,HEV,EBV,TORCH, Echo,Parvo, Ø listeriosis Ø Toxic Ø drugs-cytosta%cs,paracetamol,TPN Ø Chemicalcompounds-carbontetrachloride Ø mushrooms-Amannitaphalloides Ø Alcohol Ø Metabolical Ø Wilsondisease-disordersofCumetabolism Ø hemochromatosis-disordersofFemetabolism Ø alfa-1antytrypsindeficiency Ø Galactozemia,fructozemia,glycogenosisIV,tyrosinemia, cys%cfibrosis Ø Autoimmunological/AIH/ Ø AIHtypI,IIa,IIb,III Ø Primarybilliarycirrhosis/PBC/ Ø Primarysclerosingcholangi%s/PSC/ Ø other-Alagille’asyndrome,Aegenessydrome Diagnosis Ø interview-surgery,bloodtransfusion,alcohol, drugs,chemicals Ø serologicalmarkersofinfec%onHAV,HBV,HCV, HDV,CMV,EBV Ø darkurine,stooldiscolora%on Ø autoan%bodiesANA,AMA,ANCA,LKM,SLA Ø Cutaneous/vascularspiders,palmarerythema, Ø reduc%oninthelevelofceruloplasmin, purpuraflaw/ Ø enlargedliverandspleen Ø highcopperconcentra%onsinserumanddaily urinecollec%on Ø predominanceofdirectbilirubin/connected/ Ø elevatedlevelsofFe Ø asignificantincreaseinthelevelofALT,ASTin serumlesspronouncedFA,GGT Ø Elevetadurobilinogeninurine,bilirubinuria Ø leukopeniaandthrombocytopenia/ hypersplenism/ Ø decreaseinalbumin,gammaglobulinincrease Jaundice extracellular- cholestasis Congenitalobstruc%onofextrahepa%croadsżółciowych-biliaryatresia Cystofcommonbileduct Narrowingofthebileducts Urolithiasisand/orspontaneousperfora%onofthecommonbileduct Diagnosis Ø interview-symptomsofbiliarycholelithiasis, Ø Abdominalultrasound-thelackof itching,weightloss gallbladder Ø darkurine,stooldiscolora%on Ø Biopsywątroby-to3weeksoflife->GOLD Ø enlargementofthegallbladder,Chełmoński STANDARDDIAGNOSISbiliaryatresia symtome,liverenlarged,hard,withuneven shore Ø ERCP Ø predominanceofdirectbilirubin/related Ø CT,MR Ø asignificantincreaseinGGT,FA,smallALT, AST Ø PTC-percutaneouscholangiografia Ø leukocytosis,increasedESR,anemia Ø lackofserologicalmarkersofhepa%%s infec%on Abdominal pain Abdominalpaininchildrencanbeasymptomofpsychosocialstress,asinadults tensionheadacheintheoccipitalregion. Childrenusuallylocalizedpainaroundthenavel. Division • acute • chronic • recurrent Acute abdominal pain q mayhaveamildstart,thengraduallythepainincreases q themomentofhisappearancecanbeappliedtoaspecificdate q painwakesthechildorpreventssleep,interruptsplay q itisnon-recurring q rarelysubsideswithouttreatment q oTenaccompaniedbyothersymptoms:nausea,vomi%ng,diarrhea,fever,lackofappe%te q thepa%entisanxious,unwillingnesstoinves%gate q posi%onwithcurledlegs-protectsthestomach,decreasingmuscletensionofthestomach Acute abdominal pain- causes SURGICAL NON-SURGICAL appendeci%s cons%pa%on intussep%on gastroenteri%s cystorovariantorsion ovulatorypain simula%on urinarytractinfec%on haemoly%curaemicsyndrome hepa%%s Chronic abdominal pain q prevelence20-30%ofchildren5-14 q restrictsthenormalac%vityofthechild-only1/10pa%entsregularlygotoschool q to9yearsofageoccurswithequalfrequencyinboysandingirls,olderchildrenmoreoTeningirls q maybealsorelapsing q theremaylastforseveraldaysorweeks q individualepisodeslastupto3hours,morethanhalfofchildrenabout1hour q seizuresusuallyoccurindroves q paininterfereswithfallingasleep,butdoesnotraiseachild q inmostchildrendis%nctperiodswithoutabdominalpain,butoccasionallythepaincanbecon%nuous q Itcanbeassociatedwithothersymptoms:nausea,vomi%ng,diarrhea,headache,dizziness,fa%gue The causes of chronic abdominal pain q Themostcommoncause-func%onalabdominalpain q Infec%on-yersiniosis,giardiasis,H.pyloriinfec%on,UTI q cons%pa%on q Foodalergy q Foodintolerance-disaccharidoses-fructose,lactose,sucrose q celiacdisease q Anatomicalchanges-ovariancyst,pancreasdivided,gastrointes%nalileus/subileus q Inflammatoryboweldisease-ulcera%vecoli%s,Crohn'sdisease q Epilepsy,migraine q Drugs:NSAIDs,steroids,ironprepara%ons Chronic abdominal pain FUNCTIONALABDOMINALPAIN propergrowth lackoflocalizedsymptoms painspilled painaroundthenavel ORGANICABDOMINALPAIN painradia%ngtotheback,chest,hips,associated withtheintakeoffoodorflushing painawakensthechildfromsleep painlocated,limited inhibi%onofbodyweightgain Othersymptoms-fever,vomi%ng,jointpain, gastrointes%nalbleeding,painaroundlumbararea, changesontheskinaroundtheanusoranalfissure, analincon%nence,abdominaltumors, hepatosplenomegaly Abdominal pain- diagnosJcs Laboratorytests:bloodcount,ESR,CRP,ALT,AST,amylase,crea%nine Urinetest Stooltest:culture,viruses,occultblood,parasites,H.pylorian%geninstooltestELISA-Giardia intes%nalis abdominalultrasound Diarrhoea- diagnosis Thehigherthannormalnumberofstoolsperday(oTenmorethentwice),or changeinthenatureofstool(theyarewateryorsemi-liquid),orthechild's stoolscontainmucus,bloodorsputum WHO-acondi%oninwhichachild<2yearsofage,ar%ficiallyfedormixedhas threeormoreliquidorsemi-liquidstoolsper24hours or 1abnormalstoolhavingbloodormucusorpuswithin24hours Diarrhoea- classificaJon Divisionduetodura%on: ◦ Acutediarrhea<14days(usually3-5days) ◦ Prolongeddiarrhoea14-30days ◦ Chronicdiarrhea>30days(>14days) Thedivisionbecauseofthee%ology ◦ Noninfec%ousdiarrhea ◦ Infec%ousdiarrhea,fever,bloodinthestool,nauseaand/orvomi%ng, ◦ an%bio%cs Thedivisionduetothemechanism ◦ Osmo%cdiarrheacausedbyintes%nalinabilitytoabsorbexcessiveamountsofsubstancesthatretain water,therebyincreasingstoolvolume(eg.lactoseintolerance) ◦ Secretorydiarrheacausedbyac%vesecre%onintotheintes%neoflargeamountsofsalt,waterand othersubstances(infec%onagents,laxa%ves) Acute diarrhoea- causes Infec%onsenteral->viruses,bacteria,exotoxins,protozoa Infec%onsoutsidethegastrologicaltract->UTI,o%%smedia,pneumonia Surgicaldiseases->appendici%s,intussuscep%on,obstruc%on Drugs:->An%bio%cs Viral diarrhoea HRV(Rhinoviruses)ofgroupA,BandC ◦ ◦ ◦ ◦ ◦ ◦ ◦ infec%onthroughoral-faecal infec%oniscomprisedofsmallintes%ne shortincuba%onperiod(1-3days) oTenexcessivevomi%ng(1-2days) Acutewaterydiarrhea(usually2-7days) oTenfever 20-40%-rhini%ssymptomsofupperrespiratory tract ◦ Diagnosis:ELISAoralatexagglu%na%onassay Adenoviruses ◦ tendencytoprolongthediarrhea ◦ OTenaccompaniedbysymptomsofupper respiratorytractinfec%ons ◦ clinicalcourseisusuallymild ◦ severedehydra%on,acidosis-inthecaseofsevere vomi%ngand/ordiarrheawithoutproper treatment Rotavirus ◦ Themaincauseofseverediarrheainyoung children ◦ Europe:-autumn-winterseason ◦ Childrenaged6-24months ◦ Oralanddroplet ◦ OTenasnosocomialinfec%onsandepidemics ◦ vaccina%on Bacterial diarrhoea Thecourseisself-limi%ng! Waterystoolswithmucus,pusorblood Thetendencytothreading(Salmonella,Shigella,Yersinia,Campylobacter,EPEC) Cancallsep%cemiaandsystemicinfec%ons(Salmonella,Yersinia) Traveler'sdiarrhea(ETEC,Shigella,Salmonella,Campylobacterjejuni,Vibriocholerae, Cryptosporidiumparvum,Giardiaintes%nalis,Entamoebahistoly%ca) ETEC EnterocytotoxicalE.coli;ETEC,Shiga-liketoxinproducingE.coli;verotoxinproducingE.coli ◦ Produc%onverocytotoxins(VT1,VT-2) ◦ Clinically:bloodydiarrhea,usuallywithoutfever ◦ E.coliO157:H7-afrequentcauseofbloodydiarrheaindevelopedcountries ◦ undercookedorundercookedbeef,hamburgers,drinkingwater,unpasteurizedmilk, yogurt,vegetables ◦ Lackofsensi%vitytochemotherapy ◦ Complica%on:Hemoly%curemicsyndrome(upto10%infectedwithE.coliO157:H7 Salmonella q Infec%onofatyphoidcancausebacteremiaandfocusofinfec%onintheGItract(bones,joints,CNS)-S. typhi,S.paratyphiA,B,C q gastroenteri%s(salmonellosis)-S.enteri%dis,S.typhimurium,S.agonae q asymptoma%ccarriers q onsetusually<6yearsofage q oralinfec%on->contaminatedwater,food(icecream,mayonnaise) q fever,nausea q many,plen%fulsmellystools(mucus,pus,blood) q Theywereusuallyself-limited q sheddinginfecesisusuallyapprox.3weeks. q an%bio%cspromotesprolongedcarriage Clostridium difficile q ToxinA-enterotoxinsimilartothetoxinsofV.cholerae q ToxinB-cytotoxin q Approx.50-70%ofnewborns;20-50%<1r.ż.;approx.3%ofadults- contaminatedwithC.difficile q SymptomsaTeran%bio%cstherapy:clindamycin,ampicillin,amoxicillin, cephalosporins q Thebroadspectrumofclinicalsymptoms: ◦ milddiarrheawithwatery-brownstools ◦ severehemorrhagicdiarrhea ◦ pseudomembranouscoli%s q posi%vebacteriologicalexamina%oncannotbethebasisforthediagnosis! q goldstandard-cellculture,demonstratethecytotoxicityofC.difficiletoxinA andB Giardia intesJnalis q themostcommoncauseofparasi%cdiarrhea q developedcountriesapprox.2-5%ofthepopula%on,developingcountries approx.20% q Itisintheformtrofozoitandcysts q oralinfec%on->intakeofwaterorproductscontainingcysts q mileagevaries(asymptoma%ccarriers,acuteself-limiteddiarrhea,chronic diarrheawithmalabsorp%on q fecesorduodenalcontentstothepresenceofcystsortrophozoites q ELISAtestforGiardiaintes%nalisantygen Laboratory test Specificdiagnos%ctestsimmunosorbentassay(ELISA)orlatexagglu%na%on-detectedinasampleof stoolan%gens:HRVgroupA,adenovirus,rotavirus Inmostchildrenwithoutimmunodeficiencymicrobiologicaldiagnosisitisnotnecessary-doesnot changethebasicprinciplesoftreatment Indica%onsformicrobiologicalexamina%on: ◦ Bloodydiarrhea(Salmonella,Shigella,Campylobacter,E.coliO157:H7,Yersiniaenteroli%ca,Clostridium difficile-toxinAandB) ◦ Diarrheawithveryseveredehydra%on≥10%orseriouscondi%on ◦ Prolongeddiarrhea(>10-14days) ◦ Alargenumberofleukocytesinthestool(>5hpf) ◦ Immunosuppressioninchild ◦ epidemiologicalconsidera%ons ◦ Suspectedcholera Diarrhoea treatment Theresultofdiarrhoea-dehydra%on Lossofwaterandelectrolytesinthefaeces (Na,K,Cl,HCO3) Thedegreeofdehydra%onisdefinedasa percentageofweightloss Comparisonofcurrentweightandbefore thediarrhoeaonset Primarytreatmentofacutediarrheaisoral irriga%on(DPN)orintravenous(depending ontheextentofdehydra%on)andfeeding (earlyrealimenta%on) GRADE (weigh loss) GENERAL CONDITI ON EYEBALLS Noor small (<5%) Calm, concious Proper tension Intermed iate (5-10%) restless Sunken , dark circles Severe (>10%) Drowsy or unconsci ous , limp More sunken TEAR S MOUTH AND TONGU E THIRST SKIN FOLD + Wet Normal Straighte nupfast Dry drinks greedily thirsty Straigten sup slowly Verydry Drinks poorly or unable to drink independ ently Straighte ns up very slowl - - Acute diarrhoea treatment Oralfluids-prepara%onswithalowercontentofsodium(60mmol/l)andalowerosmolarity(245 mmol/l) Smec%te(Smecta)-reducesthedura%onofdiarrheaWed.17-24hrs.,noeffectonfaecaloutput Probio%cs-LactobacillusrhamnosusGG,Saccharomycesboulardishortensthedura%onofacute diarrheaininfantsandyoungchildrenapprox.for24hours.Efficiencyisstrainspecific.More efficientinviraldiarrhea(diarrheainthee%ologyHRV)andinearlyuse. Notrecommended: • drugsabsorbingbacterialtoxins(ac%vatedcharcoal). • drugsinhibi%ngperistalsisp.p.(Eg.Loperamide) • an%secre%ondrugs(bismuthsubsalicylate) • Torehydratenotuseacommerciallyavailableclearfruitjuices,ordrinkslike"cola" AnJbioJcs in diarrhoea Inmostcases,acuteinfec%ousdiarrhoea(viralandbacterial)resolvesspontaneouslyanddoes notrequirean%microbialagents Indicatedan%bio%ctherapyandmodifica%onoftreatmentaTercollec%ngstoolculturewhen: fever(>380C)andatleastoneofthefollowingsymptoms: ->Bloodydiarrhea ->Largenumberofleukocytesand/orlactoferrininthestool Chronic diarrhoea- causes Frequentcausesofchronicdiarrhoea ◦ post-infec%ousdiarrhoea,toddler’sdiarrhoea,foodallergy,coeliacdisease,cys%c fibrosis,disaccharideintolerance Rarecausesofchronicdiarrhea ◦ diarrhoeachloride,diarrhoeasodium,congenitalatrophyofmicrovilli,epithelial dysplasia,autoimmunediarrhoea Food allergy Themostcommonallergens Childhood-90%offoodallergiesarecausedbyproteinsofcow'smilk,eggs,peanuts,wheat Teens,youngadultsandlaterage-85%peanuts,fish,shellfish Allergytocow'smilkproteins Formulafeeding:1,9-4,4% Breast-feeding:0.5% Food allergy- causes Diges%vetract ◦ ◦ ◦ ◦ ◦ ◦ ◦ ◦ ◦ ◦ Vomi%ng(approx.25-75%) Acutediarrhea Chronicdiarrhea(approx.25-75%) Lossofbodymass Enteropathy-malabsorp%on Irondeficiencyanemia Abdominalpain,abdominalcolic(babies) Coli%s,proctocoli%s gastroenteropathyeosinophilic cons%pa%on Skin Respiratorysystem Food allergy DIAGNOSIS TREATMENT q Interview q Elimina%ondiet q Oralfodchallenge q Proteinhydrolysates(Bebilonpep%, Nutramigen) • open • blind • double-blind q skintests q TotalIgEandspecific q Dietselementary(Bebilonamino, Neocate) q Soyformula Lactose intolerance Primarylactosedeficiency–veryrare! Secondarylactasedeficiency • acuteandchronicgastrointes%nalinfec%ons • foodalergy • celiacdisease • an%bio%corchemotherapy • immunedisorders • malnutri%on Hypolactasiaadulttype ◦ InPolandapprox.35% Coeliac disease Celiacdiseaseisimmune-mediated,causedbygluten,andthegluten-likeprolamins. This disease affects people with a gene%c predisposi%on, and is characterized by clinical symptomsglutenodependant,enteropathyandan%bodiesspecificforcoeliacdisease: • %ssuetransglutaminasean%bodies–tTGA • endomysialan%bodies–EMA • deamidatedgliadinpep%de–DGP • histocompa%bilityan%gensHLA-DQ2orDQ8 Coeliac disease- classificaJon 1. Theclassicformofthedisease 2. Hidden refractoryanemiaandrecurrent shortstature delayedpubertyandinfer%lity enamelhypoplasia recurrentaphthousinmouth 3. Latent 4. Thepoten%al(onlyHLA) Coeliac disease – classical form Arich,smelling,fa{ystools Inhibi%onofweightgainordecrease Growthretarda%on Childsad,apathe%c,irritable Lipoatrophy Alargeprotrudingbelly,thinlegs Toddler’s diarrhoea Themostcommoncauseofchronicdiarrhoea! Painlesspassingthreeormoreunformedstoolsforatleast4weeks Onsetbetween6a36m.ż. Stoolsonlyduringtheday%me Nodisturbancesofweightgain(ifsufficientcaloricintake) Children ◦ treatmentisnotnecessary ◦ increasingthedoseoffatandreducedamountsofjuices Parents ◦ explainthenatureofthedisease ◦ persuadingparentsaboutthebenignnatureofthedisease ConsJpaJon Defeca%onoccursless1per3daysand/orthebigeffortsisnecceserybecause hard,thoughstoolconsistencyinchildrenaTerinfancy. Func%onalcons%pa%onaccordingtoRomeIIICriteria: *≤2stools/week *≥1episodeoffecalinconinenec/week *fecalmassesinrectalampulla *ininterview:reten%onbehaviours,hard,toughstools,largediameterofthe stools *Diagnosis-2ormoresymptomsoccursatleastfor2months Organic causes of the consJpaJon q Surgical: • Hirschsprungdisease • Anusandrectaldiseases • Acuteabdomen q Metabological • • • • dehydrata%on Cys%cfibrosis(meconiumobstruc%on) Hipothyroidism,adrenalinsufficiency Hipercalcemia q neuromuscular • • • • hypotensionabdominalmuscles(Downsyndrome,MPD) musculardystrophy spinalinjury(tumors,spinabifida) Congenitalmuscularlimpness q ATerdrugsintake • • • • narco%cs an%depressants psychotropmedicines vincris%ne q Psychiatric:anorexianervosa,depression q Inolderinfantsexclusivelybreas~ed ConsJpaJon INTERVIEW Physicalexamina%on q Childage q assessmentofnutri%onalstatus q Dura%on%meofilness q abdominaldistension q Frequencyofbowelmovement,stools consistency,effortduringdefeca%on,bloodin stools,fecalincon%nence q palpa%onassessmentoffaecalimpac%oninthe leTandsome%mesrightiliacfossa%me q TimeaTerbirthwhenmeconiumappears q drugs q VitD3supplementa%on q diet q Otherdiseases q rectalexamina%on-evalua%onvoltageof sphincter,thepresenceoffecalmassesina rectum AddiJonal tests q Ultrasoundofabdominalcavityandthyroid q electrolytes q Thyroidhormones q Sweatchloridetest q Vitamin25OHD3 q Anorectalmanometry q enema q rectoscopy q transit%me q Rectalbiopsy:histologicalexamina%onandhistochemical Treatment q Coloncleansingfromdefaul%ngfecalmasses q Drugs:laxa%ves,drugsaffec%nggastrointes%nalmo%lity q High-fiberdiet q Increasedphysicalac%vity q Psychologicalexamina%on q Surgicaltreatment Literature Ø Pediatria,Kawalec,Grenda,PZWL,Warszawa2013 Ø IllustratedtextbookofPediatrics,4thEdi%on Ø EuropeanSocietyforPediatricGastroenterology,Hepatology,andNutri%onGuidelinesfor theDiagnosisofCoeliacDisease.JPGNVolume54,Number1,January2012 Ø DrossmanDA.Thefunc%onalgastrointes%naldisordersandtheRomeIIIprocess. Gastroenterology.2006;130:1377-90. Ø SummaryandRecommenda%ons:Classifica%onofGastrointes%nalManifesta%onsDueto ImmunologicReac%onstoFoodsinInfantsandYoungChildrenSampson,HughA.; Anderson,JohnA.JPGN,2000,30,S87-S94 Ø Google.com Ø Slideshare.net