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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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