Molecular Basis of Pulmonary Disease

Insights from Rare Lung Disorders

Francis X. McCormack, Ralph J. Panos, Bruce C. Trapnell (Herausgeber)

Buch | Softcover

438 Seiten

2016 | Softcover reprint of the original 1st ed. 2010
Humana Press Inc. (Verlag)
978-1-4939-6081-1 (ISBN)

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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. . . . . . . . . . . . . .

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.

Erscheinungsdatum	19.08.2017
Reihe/Serie	Respiratory Medicine
Zusatzinfo	XI, 438 p.
Verlagsort	Totowa, NJ
Sprache	englisch
Maße	178 x 254 mm
Themenwelt	Medizinische Fachgebiete ► Innere Medizin ► Pneumologie
Themenwelt	Medizin / Pharmazie ► Studium
ISBN-10	1-4939-6081-4 / 1493960814
ISBN-13	978-1-4939-6081-1 / 9781493960811
Zustand	Neuware