cystic fibrosis2012

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1、FromCysticFibrosistoprogeriaGenehuntingandtherapyFromgenetotherapyHuntformutatantgeneDesigntargetedtherapyInheriteddiseasesCommondiseasesAlzheimer’scancerCysticfibrosis囊肿性纤维化(Cysticfibrosis)白种人最常患上囊肿性纤维化。1/2,5001595:1sthistoricalrecordofCFPieterPauw(1564-1617),theProfessorofBotanyan

2、dAnatomyatLeiden“OnJanuary16th1595,autopsyonan11yearoldgirlhttp://www.cfmedicine.com/history/earlyyears.htmPeiterPauwperforminganautopsyintheAnatomicalTheatreinLeiden.FromTheParadoxofthePancreas.ModlinIM,KiddM(Eds).2003:280.Withtheauthor'spermissionSymptoms症状11-yearoldgirlsaidtobeb

3、ewitched.strangesymptomsfor8years.Deathhadbeencausedbythepancreaswhichwasoddlyswollen.Itwasveryclosetotheroundedsideoftheliver,sothatonecouldhavethought,intouchingit,thatitwasascirrhous(atypeofcancerwithahardandwoodytexture).Whenitwasremovedtheinteriorwasfoundtobebrightlycoloured,ak

4、indofhardwhiteviscousmass.Thelittlegirlwasverythin,wornoutbyhecticfever(afluctuating)butpersistentfever”.Saltyskin咸皮肤1729：excessivelysaltytastetotheskinmeantachildwasbewitchedPancreasdeficit?1857：Thechildwillsoondiewhosebrowtastessaltywhenkissed1923WilsonJR,DuBoisROHistologyofthepan

5、creasCystsFibrosisAlsoinLung：“keratinisationoftheepitheliumamarkedperibronchitis,bronchiectaticcavitiesandabscesses。1938:Dr.DorothyHAndersenPathologicalLaboratory,BabiesHospitalandtheDepartmentofPathology,RoyalCollegeofPhysiciansandSurgeons,ColumbiaUniversity,NewYorkIn45ofthecasesth

6、epancreaspresentedamicroscopicpicturewhichisdescribedbythetermcysticfibrosisthefirstcleardetailedclinicalandpathologicaldescriptionofalargeseriesofaffectedinfantsinEnglish6dayoldbaby-pancreas1938:CysticfibrosisDorothyHAndersen1901-1963anieceofHansChristianAndersen.Shewasabrightcompa

7、ssionateandsensitivescientistwhowasalsoachainsmokeranddiedoflungcancerattheageof62years.Eventuallyover600childrenwithCFwerereferredtoherinNewYork1950sLunginfectionMucusproblemViscidsputumSweatTest1953DiSant'AgneseanexcessofsodiumchlorideinthesweatofchildrenaffectedbyCF.sweatchloride

8、test,theonlyreliabl