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Cystic fibrosis
Cysticfibrosis(CF)isthemostcommonlifethreateninggeneticdisorderamongstCaucasians.It primarilyaffectstherespiratorysystem(lungs),thedigestivesystem(pancreasandsometimes liver)andthereproductivesystem.WhenapersonhasCFtheirmucusglandssecreteverythick stickymucus.Inthelungs,themucusclogsthetinyairpassagesandtrapsbacteria.Repeated infectionsandblockagescancauseirreversiblelungdamageandashortenedlife.Thepancreasis alsoaffected,preventingthereleaseofenzymesneededtodigestfood.Thismeansthatpeople withCFcanhaveproblemswithnutritionandmustconsumeadiethighinkilojoules,fats,sugar andsalts. People with CF produce abnormal mucus CFaffectstheexocrineglands,whichsecretebodyfluidssuchassweat,mucusandenzymes. PeoplewithCFproduceabnormallythick,stickymucuswhichblockssmallairpassagesinthe lungs.Thiscausesdifficultyclearinginfectionsandcanresultinlungdamageoveraperiodoftime. A range of symptoms PeoplewithCFmayhavethefollowingsymptoms: Persistentcough,withgreatphysicaleffort Somedifficultybreathing Tiredness,lethargyoranimpairedexerciseability Frequentvisitstothetoilet Saltlossinhotweatherwhichmayproducemusclecrampsorweakness Poorappetite.

Ima ge des crip

How common is CF? InAustralia,onein25peoplearecarriersoftheCFgene.CarriersoftheCFgenedonothaveany symptomsofthecondition.Iftwopeoplecarrythegeneandhaveachild,eachpregnancywill have: AoneinfourchancethatthechildwillhaveCF AtwoinfourchancethatthechildwillnothaveCFbutwillcarrythegene AoneinfourchancethatthechildwillnothaveCFandwillnotbeacarrier.

Oneinevery2,500birthsproducesachildwithCF.Approximately3,000peopleinAustraliahave CF. CF is usually diagnosed at birth InmostAustralianStates,allbabiesarescreenedatbirthforCFusingaheelpricktest(Guthrie Test)whichinvolvescollectionofabloodsample.Iftheresultsofthebloodspottestrevealvery highlevelsofasubstancecalledImmunoreactiveTrypsin(IRT),CFissuspectedandtheDNAinthe bloodisthenanalysedforthemostcommonmutationcausingCF.Asweattestmaybedoneto measuretheamountofsalt(sodiumchloride)inthesweatandconfirmthediagnosis. Somebabiesmaybediagnosedshortlyafterbirthasaresultofanintestinalblockagecalled meconiumileus. MostbabieswhohaveCFarenowdiagnosedwithinthefirsttwomonthsoflife. Treatment aims to slow progress TreatmentforCFcanbeintensiveandtimeconsuming.AtpresentthereisnocureforCF. Treatmentaimstoslowprogressionoftheconditionandincludes: Chestphysiotherapy

Cysticfibrosis

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Antibiotics Inhalationsviaacompressedairpumpandnebuliser Enzymereplacementcapsuleswithmealsandsnacks Awellbalanceddiethighinprotein,fatandkilojoules Supplementaryvitamins Saltsupplements Regularexercise.

RegularattendanceatamajorCFclinicisbeneficialandrecommended Where to get help Yourdoctor CysticFibrosisVictoriaInc. CFClinicsatMonashMedicalCentre,TheAlfredortheRoyalChildrensHospital.

Things to remember

ThereisnocureforCFbuttreatmentcanslowprogressionofthedisease Onein25peoplecarrythegenebutwillhavenosymptoms CFisusuallydiagnosedatbirth CFisnotcontagious CFoccursinmalesandfemales.

This page has been produced in consultation with, and approved by:

CysticFibrosisVictoria

Copyight 1999/2009StateofVictoria.ReproducedfromtheBetterHealthChannel(www.betterhealth.vic.gov.au)at nocostwithpermissionoftheVictorianMinisterforHealth.Unauthorisedreproductionandotherusescomprisedinthe copyrightareprohibitedwithoutpermission. ThisBetterHealthChannelfactsheethaspassedthrougharigorousapprovalprocess.Forthelatestupdatesandmore informationvisitwww.betterhealth.vic.gov.au.

Cysticfibrosis

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