Dr. SharonRounds,theeditorforthisserieswhoinvitedustowriteabookonrare lungdiseases,developedtheideaafterattendingthe2004Lymphangioleiomyomatosis (LAM)Foundationannualresearchmeeting. Shewasakeynotespeakeratthatevent (duringhertenureasthepresidentoftheAmericanThoracicSociety)andwasw- nesstothepowerofpatientadvocacyandthemission-basedscienti ceffortthathad broughtthisrarediseaseofwomenfromobscuritytoclinicaltrialswithtargetedmol- ulartherapiesinunderadecade. Theprogressinpulmonaryalveolarproteinosis(PAP), pulmonaryalveolarmicrolithiasis(PAM),inheriteddisordersofsurfactantmetabolism, and pulmonary arterial hypertension, to name a few, has been no less astounding. Advanceshavecomefromthemostsurprisingdirections;fruit iesforLAM,gen- ically engineered mice made for other purposes for PAP, and groundbreaking hi- densitySNP(single-nucleotidepolymorphism)analysesdoneonahandfuloffamilies forPAM. Inmanycases,insightsintobiologygainedfromrarediseaseshaveinformed researchapproachesandtreatmentstrategiesformorecommondiseases;forexample, knowledgegainedfromthestudyofPAPabouttheroleofGM-CSFinthelunghas sparkedinterestintheuseofantiGM-CSFapproachestocontrolbothpulmonaryand extrapulmonaryin ammationinavarietyofdiseases. The ndingthatinterstitiallung diseasedevelopsinfamilieswithcytotoxicmutationsinsurfactantproteinC(SP-C), agenewhichisexpressedonlyinalveolartypecells,hasunderscoredtheimportance oftheintegrityofthealveolarepitheliuminthepathogenesisofparenchymal brosis. Opportunitiestoapproachlungdiseasepathogenesisfromthevantagepointofap- marymoleculardefectaregiftsfromnaturethatareuniquelyabundantamongtherare lungdisorders. WesalutetheNIHandtheNationalCenterforResearchResourcesfortheirvisionin facilitatingthetranslationofbasicresearchadvancesinrarelungdiseasesintoclinical realitythroughtheRareLungDiseaseConsortium,anetworkof13USandinter- tionalsitesthatiscurrentlyconductingclinicaltrialsandstudiesinLAM,alphaone antitrypsin de ciency, pediatric interstitial lung disease, and PAP. It has been a rare privilegetoworkonsuchfascinatingdiseaseswithsuchcapableinvestigatorsfromall overtheworldoverthepast6years. v vi Preface Theformatforthisvolumeisunique. Mostchaptershavebeenauthoredbyacli- cianandabasicscientistwhoareexpertinthediseasetopicandunderlyingmolecular defect,respectively. Theirchargewastofocusonthegeneticbasisandmolecularpat- genesisofdisease,animalmodels,clinicalfeatures,diagnosticapproach,conventional managementandtreatment,andfuturetherapeutictargetsanddirections. Theintentwas nottoprovideabroadoverview,butrathertoshedlightonthemolecularmechanisms thatevoketheclinicalpresentationandengendertreatmentstrategiesforeachdisease. Wehopethatthisapproachwillproveusefulforpulmonarycliniciansandscientists alike. Wethankourwives,Holly,Jean,andVicky,fortheirsupportandindulgencewith latenightemailsandwork- lledweekends,Dr. Roundsfortheinvitationtowritethe book,andalloftheauthorswhocontributed. FrancisMcCormack,MD RalphPanos,MD BruceTrapnell,MD Contents Preface. v Contributors. ix 1 AClinicalApproachtoRareLungDiseases. 1 RalphJ. Panos 2 ClinicalTrialsforRareLungDiseases. 31 JeffreyKrischer 3 IdiopathicandFamilialPulmonaryArterialHypertension. 39 JeanM. Elwing,GailH. Deutsch,WilliamC. Nichols, andTimothyD. LeCras 4 Lymphangioleiomyomatosis. 85 ElizabethP. HenskeandFrancisX. McCormack 5 AutoimmunePulmonaryAlveolarProteinosis. 111 BruceC. Trapnell,KohNakata,andYoshikazuInoue 6 MutationsinSurfactantProteinCandInterstitialLungDisease. 133 RalphJ. PanosandJamesP. Bridges 7 HereditaryHaemorrhagicTelangiectasia. 167 ClaireShovlinandS. PaulOh 8 Hermansky–PudlakSyndrome. 189 LisaR. YoungandWilliamA. Gahl 9 Alpha-1AntitrypsinDe ciency. 209 CharlieStrangeandSabinaJanciauskiene vii viii Contents 10 TheMarfanSyndrome. 225 AmareshNathandEnidR. Neptune 11 SurfactantDe ciencyDisorders:SP-BandABCA3. 247 LawrenceM. Nogee 12 PulmonaryCapillaryHemangiomatosis. 267 EdwardD. Chan,KathrynChmura,andAndrewSullivan 13 Anti-glomerularBasementDisease:Goodpasture’sSyndrome. 275 GangadharTaduri,RaghuKalluri,andRalphJ. Panos 14 PrimaryCiliaryDyskinesia. 293 MichaelR. Knowles,HildaMetjian,MargaretW. Leigh, andMaimoonaA. Zariwala 15 PulmonaryAlveolarMicrolithiasis. 325 KoichiHagiwara,TakeshiJohkoh,andTeruoTachibana 16 CysticFibrosis. 339 AndréM. Cantin 17 PulmonaryLangerhans’CellHistiocytosis–Advances intheUnderstandingofaTrueDendriticCellLungDisease. 369 RobertVassallo 18 Sarcoidosis. 389 RalphJ. PanosandAndrewP. Fontenot 19 SclerodermaLungDisease. 409 BrentW. Kinder SubjectIndex. 421 Contributors JamesP. Bridges,PhD, DepartmentofNeonatologyinPulmonaryBiology,Children’s HospitalMedicalCenter,Cincinnati,OH AndréM. Cantin,MD, Department of Medicine, University of Sherbrooke, Sherbrooke,QC,Canada EdwardD. Chan,MD, DepartmentofInternalMedicine,NationalJewishMedicaland ResearchCenter,Denver,CO KathrynChmura,BA, Department of Medicine, University of Colorado School of Medicine,Denver,CO GailH.
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Weitere Infos & Material
A Clinical Approach to Rare Lung Diseases.- Clinical Trials for Rare Lung Diseases.- Idiopathic and Familial Pulmonary Arterial Hypertension.- Lymphangioleiomyomatosis.- Autoimmune Pulmonary Alveolar Proteinosis.- Mutations in Surfactant Protein C and Interstitial Lung Disease.- Hereditary Haemorrhagic Telangiectasia.- Hermansky–Pudlak Syndrome.- Alpha-1 Antitrypsin Deficiency.- The Marfan Syndrome.- Surfactant Deficiency Disorders: SP-B and ABCA3.- Pulmonary Capillary Hemangiomatosis.- Anti-glomerular Basement Disease: Goodpasture’s Syndrome.- Primary Ciliary Dyskinesia.- Pulmonary Alveolar Microlithiasis.- Cystic Fibrosis.- Pulmonary Langerhans’ Cell Histiocytosis – Advances in the Understanding of a True Dendritic Cell Lung Disease.- Sarcoidosis.- Scleroderma Lung Disease.
