Molecular Basis of Pulmonary Disease: Insights from Rare Lung Disorders

ISBN-13: 9781588299635 / Angielski / Twarda / 2010 / 438 str.

McCormack, Francis X.

Opis

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

Recenzje

From the reviews:

"This unique book attempts to briefly review the clinical manifestations and evolution of a few uncommon, mostly very rare pulmonary disorders, some of which even subspecialist pulmonologists rarely or never encounter during their careers. ... The editors derive insight and input from contributors of eclectic knowledge and experience. ... Certainly, the audience would be limited to basic scientists and a modicum of clinicians with unique interests. ... The book achieves its likely intended goals well. ... a potentially useful addition to my medical library." (Joel C. Seidman, Doody's Review Service, July, 2010)

Spis treści

Chapter 1. A Clinical Approach to Rare Lung Diseases Ralph Panos, M.D. Chapter 2. Clinical Trials for Rare Lung Diseases Jeffrey Krischer, Ph.D. Chapter 3. Idiopathic and Familial Pulmonary Arterial Hypertension Jean M. Elwing, M.D., Gail Deutsch, M.D., William C. Nichols, Ph.D., and Timothy LeCras, Ph.D., Chapter 4. Lymphangioleiomyomatosis Francis X. McCormack, M.D, and Elizabeth P. Henske, M.D., Ph.D. Chapter 5. Autoimmune Pulmonary Alveolar Proteinosis Bruce Trapnell, M.D., Koh Nakata, M.D., Ph.D., and Yoshikazu Inoue, M.D., Ph.D. Chapter 6. Mutations in Surfactant Protein C and Interstitial Lung Disease James P. Bridges, Ph. D. and Ralph Panos, M.D. Chapter 7. Hereditary Hemorrhagic Telangiectasia Claire Shovlin, M.D and S. Paul Oh, Ph.D. Chapter 8. Hermansky Pudlak Syndrome Lisa Young, M.D. and Bill Gahl, M.D., Ph.D. Chapter 9. Alpha One Antitrypsin Deficiency Charlie Strange, M.D. and Sabrina Janciauskiene, Ph.D. Chapter 10. The Marfan Syndrome Amaresh Nath, M.D and Enid Neptune, M.D. Chapter 11. Surfactant Deficiency Disorders SP-B and ABCA3 Larry Nogee, M.D. Chapter 12. Pulmonary Capillary Hemangiomatosis Edward D. Chan, M.D., Kathryn Chmura, B.A, and Andrew Sullivan, M.D. Chapter 13. Goodpasture's Syndrome Gangadar Taduri, M.D., D.M., Raghu Kalluri, Ph.D., and Ralph P. Panos, M.D. Chapter 14. Primary Ciliary Diskinesia Michael R. Knowles, M.D., Hilda Morillas, M.D., Margaret W. Leigh, M.D., Maimoona Zariwala, Ph.D. Chapter 15. Pulmonary Alveolar Microlithiasis Koichi Hagiwara, MD, Takeshi Jokoh, M.D., Teruo Tachibana, MD Chapter 16. Cystic Fibrosis Andre Cantin, M.D. Chapter 17. Pulmonary Langerhan’s CellHistiocytosis Robert Vassallo, M.D. Chapter 18. Sarcoidosis Ralph Panos, M.D. and Andrew Fontenot, M.D. Chapter 19. Scleroderma Lung Disease Brent Kinder, M.D.

Blurb

The study of rare lung disorders enhances our understanding of common pulmonary diseases such as fibrosis and emphysema. Molecular Basis of Pulmonary Disease: Insights from Rare Lung Disorders brings together a panel of distinguished clinicians and molecular scientists who are experts in a range of rare lung diseases and their underlying molecular defects. Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy-to-read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnostic approaches, conventional management and treatment strategies, as well as future therapeutic targets and directions. Disorders ranging from the Marfan and Goodpasture’s syndromes to Sarcoidosis and alpha one antitrypsin deficiency are treated in detail. Written for pulmonary clinicians and scientists alike, Molecular Basis of Pulmonary Disease: Insights from Rare Lung Disorders is a comprehensive and invaluable nesource that sheds new light on the molecular mechanisms influencing the clinical presentation and treatment strategies for these debilitating disorders.