Cystic Fibrosis in the 21st Century
Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many ‘Recent Advances’ texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old.
This book addresses all professionals who treat cystic fibrosis and want to have an update of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
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Table of Contents
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1 - 10: The CFTR Gene: Structure, Mutations and Specific Therapeutic ApproachesByMalka Nissim-Rafinia;Malka Nissim-RafiniaDepartment of Genetics, Life Sciences Institute,Hebrew University, Jerusalem, IsraelSearch for other works by this author on:Liat Linde;Liat LindeDepartment of Genetics, Life Sciences Institute,Hebrew University, Jerusalem, IsraelSearch for other works by this author on:Batsheva KeremBatsheva KeremDepartment of Genetics, Life Sciences Institute,Hebrew University, Jerusalem, IsraelSearch for other works by this author on:
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11 - 20: Exquisite and Multilevel Regulation of CFTR ExpressionByAnn E.O. TreziseAnn E.O. TreziseSchool of Biomedical Science, University of Queensland, Brisbane,AustraliaSearch for other works by this author on:
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21 - 28: Intracellular Processing of CFTRByHervé Barriere;Hervé BarriereHospital for Sick Children Research Institute, Program in Cell and Lung Biology and Department of Laboratory Medicine and Pathobiology, University of Toronto,Toronto, CanadaSearch for other works by this author on:Gergely L. LukacsGergely L. LukacsHospital for Sick Children Research Institute, Program in Cell and Lung Biology and Department of Laboratory Medicine and Pathobiology, University of Toronto,Toronto, CanadaSearch for other works by this author on:
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29 - 37: Structure of the Cystic Fibrosis Transmembrane Conductance RegulatorByFiona L.L. Stratford;Fiona L.L. StratfordProgramme in Structural Biology and Biochemistry, Research Institute, Hospital for Sick Children, and Departments of Physiology and Biochemistry, University of Toronto,Toronto, CanadaSearch for other works by this author on:Christine E. BearChristine E. BearProgramme in Structural Biology and Biochemistry, Research Institute, Hospital for Sick Children, and Departments of Physiology and Biochemistry, University of Toronto,Toronto, CanadaSearch for other works by this author on:
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38 - 44: Function of CFTR Protein: Ion TransportByJeng-Haur Chen;Jeng-Haur ChenDepartment of Physiology, University of Bristol, School of Medical Sciences, Bristol, UKSearch for other works by this author on:Zhiwei Cai;Zhiwei CaiDepartment of Physiology, University of Bristol, School of Medical Sciences, Bristol, UKSearch for other works by this author on:Hongyu Li;Hongyu LiDepartment of Physiology, University of Bristol, School of Medical Sciences, Bristol, UKSearch for other works by this author on:David N. SheppardDavid N. SheppardDepartment of Physiology, University of Bristol, School of Medical Sciences, Bristol, UKSearch for other works by this author on:
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45 - 53: Cystic Fibrosis: Function of CFTR Protein: Regulatory FunctionsByR.D. Coakley;R.D. CoakleyCystic Fibrosis and Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, N.C., USASearch for other works by this author on:M.J. StuttsM.J. StuttsCystic Fibrosis and Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, N.C., USASearch for other works by this author on:
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54 - 60: Function of CFTR Protein: Developmental RoleByDeborah Gill;Deborah GillaGene Medicine Group, Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford, UK;Search for other works by this author on:Janet E. LarsonJanet E. LarsonbNeonatology, Stony Brook University Health Sciences Center, Stony Brook, N.Y., USASearch for other works by this author on:
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61 - 68: Genotype-Phenotype Correlations in Cystic FibrosisByRuslan Dorfman;Ruslan DorfmanThe Hospital for Sick Children,Toronto, CanadaSearch for other works by this author on:Julian ZielenskiJulian ZielenskiThe Hospital for Sick Children,Toronto, CanadaSearch for other works by this author on:
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69 - 76: Diagnosis of Cystic Fibrosis, CFTR-Related Disease and ScreeningByBarbara A. Karczeski;Barbara A. KarczeskiaJohns Hopkins University DNA Diagnostic Lab andSearch for other works by this author on:Garry R. CuttingGarry R. CuttingaJohns Hopkins University DNA Diagnostic Lab andbJohns Hopkins University School of Medicine,Baltimore, Md., USASearch for other works by this author on:
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77 - 83: CF Modifier GenesByUta Griesenbach;Uta GriesenbachDepartment of Gene Therapy, NHLI, Imperial College and Departments of Paediatric Respiratory Medicine,The UK Cystic Fibrosis Gene Therapy Consortium and Thoracic Medicine,Royal Brompton Hospital, London, UKSearch for other works by this author on:Eric W.F.W. Alton;Eric W.F.W. AltonDepartment of Gene Therapy, NHLI, Imperial College and Departments of Paediatric Respiratory Medicine,The UK Cystic Fibrosis Gene Therapy Consortium and Thoracic Medicine,Royal Brompton Hospital, London, UKSearch for other works by this author on:Jane C. DaviesJane C. DaviesDepartment of Gene Therapy, NHLI, Imperial College and Departments of Paediatric Respiratory Medicine,The UK Cystic Fibrosis Gene Therapy Consortium and Thoracic Medicine,Royal Brompton Hospital, London, UKSearch for other works by this author on:
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84 - 92: Animal ModelsByJulia R. DorinJulia R. DorinMRC Human Genetics Unit,Western General Hospital, Crewe Road South, Edinburgh, UKSearch for other works by this author on:
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93 - 101: In Vitro/Ex Vivo Fluorescence Assays of CFTR Chloride Channel FunctionByA.S. Verkman;A.S. VerkmanaDepartments of Medicine and Physiology, Cardiovascular Research Institute, University of California,San Francisco, Calif., USA;Search for other works by this author on:Luis J.V. GaliettaLuis J.V. Galiettab Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, ItalySearch for other works by this author on:
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102 - 108: In Vivo Measurement of Airway Potential Difference to Assess CFTR Function in ManByPeter Middleton;Peter MiddletonaCystic Fibrosis Unit, Department of Respiratory Medicine,Westmead Hospital,Westmead,Australia;Search for other works by this author on:Eric W.F.W. AltonEric W.F.W. AltonbDepartment of Gene Therapy, National Heart and Lung Institute, Imperial College, London, UKSearch for other works by this author on:
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109 - 114: Arrays and ProteomicsByVarrie C. Ogilvie;Varrie C. OgilvieMedical Genetics Section, Department of Medical Sciences, Edinburgh University, Edinburgh;The UK Cystic Fibrosis Gene Therapy Consortium, Edinburgh/London/Oxford, UKSearch for other works by this author on:Gordon MacGregorGordon MacGregorMedical Genetics Section, Department of Medical Sciences, Edinburgh University, Edinburgh;The UK Cystic Fibrosis Gene Therapy Consortium, Edinburgh/London/Oxford, UKSearch for other works by this author on:
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116 - 121: Pathogenesis of Pulmonary Disease in Cystic FibrosisByMarcus Mall;Marcus MallaDepartment of Pediatrics III, Pediatric Pulmonology and Cystic Fibrosis Center, University of Heidelberg, Heidelberg, Germany;Search for other works by this author on:Richard C. BoucherRichard C. BoucherbCystic Fibrosis/Pulmonary Research and Treatment Center, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, N.C., USASearch for other works by this author on:
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122 - 130: Infection versus InflammationByAssem G. Ziady;Assem G. ZiadyDepartment of Pediatrics, Case Western Reserve University, Cleveland, Ohio, USASearch for other works by this author on:Pamela B. DavisPamela B. DavisDepartment of Pediatrics, Case Western Reserve University, Cleveland, Ohio, USASearch for other works by this author on:
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131 - 137: Pseudomonas aeruginosa: Clinical ResearchByDavid ArmstrongDavid ArmstrongDepartment of Paediatrics, Monash University and Department of Respiratory and Sleep Medicine,Monash Medical Center, Clayton, AustraliaSearch for other works by this author on:
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138 - 144: Pseudomonas aeruginosa: Basic ResearchByF.W. Scott;F.W. ScottLaboratory of HealthCare Associated Infection, Centre for Infections, Health Protection Agency, London, UKSearch for other works by this author on:T.L. PittT.L. PittLaboratory of HealthCare Associated Infection, Centre for Infections, Health Protection Agency, London, UKSearch for other works by this author on:
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145 - 152: Other Gram-Negative Organisms: Burkholderia cepacia complex and Stenotrophomonas maltophiliaByJohn R.W. GovanJohn R.W. GovanMedical Microbiology, University of Edinburgh Medical School, Edinburgh, UKSearch for other works by this author on:
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153 - 159: Staphylococcus aureus and MRSABySteven Conway;Steven ConwayConsultant Paediatrician, Clinical Director Cystic Fibrosis Services, Leeds Teaching Hospitals Trust, Leeds, UKSearch for other works by this author on:Miles DentonMiles DentonConsultant Paediatrician, Clinical Director Cystic Fibrosis Services, Leeds Teaching Hospitals Trust, Leeds, UKSearch for other works by this author on:
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160 - 165: Nontuberculous Mycobacterial Lung Disease in Patients with Cystic FibrosisByDavid E. GriffithDavid E. GriffithUniversity of Texas Health Center, Tyler, Tex., USASearch for other works by this author on:
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166 - 172: Respiratory Fungal Infections and Allergic Bronchopulmonary AspergillosisByChengli Que;Chengli QueDepartment of Respiratory Medicine, Royal Brompton Hospital, London, UKSearch for other works by this author on:Duncan GeddesDuncan GeddesDepartment of Respiratory Medicine, Royal Brompton Hospital, London, UKSearch for other works by this author on:
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173 - 179: Advanced Disease Management and Advances in Transplant MedicineByMartin R. Carby;Martin R. CarbyaConsultant Respiratory and Transplant Physician, Royal Brompton & Harefield NHS Trust, Harefield Hospital, Harefield, Uxbridge, andSearch for other works by this author on:Margaret E. HodsonMargaret E. HodsonbMedicine and Honorary Consultant Physician, Royal Brompton & Harefield, Royal Brompton Hospital, London, UKSearch for other works by this author on:
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180 - 186: Current and Novel Antimicrobial ApproachesByJane C. DaviesJane C. DaviesImperial College, London, Honorary Consultant in Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UKSearch for other works by this author on:
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187 - 194: Anti-Inflammatory Agents: A Clinical PerspectiveByT.N. Hilliard;T.N. HilliardDepartment of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UKSearch for other works by this author on:I.M. Balfour-LynnI.M. Balfour-LynnDepartment of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UKSearch for other works by this author on:
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195 - 204: Recent Advances in Infant and Pre-School Lung FunctionBySarath RanganathanSarath RanganathanDepartment of Respiratory Medicine, Royal Children’s Hospital and Department of Paediatrics,University of Melbourne, Parkville, AustraliaSearch for other works by this author on:
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205 - 211: Recent Advances in ImagingByAnastasia Oikonomou;Anastasia OikonomouaDepartment of Radiology,Alexandroupolis University Hospital, Dragana,Alexandroupolis, Greece;Search for other works by this author on:David M. HansellDavid M. HansellbDepartment of Radiology, Royal Brompton Hospital, London, UKSearch for other works by this author on:
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212 - 220: New Pharmacological Approaches for Treatment of Cystic FibrosisByRonald C. RubensteinRonald C. RubensteinUniversity of Pennsylvania School of Medicine, Division of Pulmonary Medicine, Children’s Hospital of Philadelphia, Philadelphia, Pa., USASearch for other works by this author on:
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221 - 229: Gene and Stem Cell TherapyByA. Christopher BoydA. Christopher BoydaMedical Sciences (Medical Genetics), University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh;bUK Cystic Fibrosis Gene Therapy ConsortiumSearch for other works by this author on:
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232 - 241: Gut Disease: Clinical Manifestations, Pathophysiology, Current and New TreatmentsByC.J. Taylor;C.J. TayloraSheffield Children’s Hospital andSearch for other works by this author on:J. HardcastleJ. HardcastlebDepartment Biomedical Science, University of Sheffield, Sheffield, UKSearch for other works by this author on:
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242 - 250: Pancreatic Involvement: Clinical Manifestations, Pathophysiology and New TreatmentsByKeith J. LindleyKeith J. LindleyLondon Centre for Pancreatic Disease in Childhood,Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, UKSearch for other works by this author on:
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251 - 261: Cystic Fibrosis: Liver DiseaseByD. WestabyD. WestabyChelsea and Westminster Hospital, and Imperial College Medical School, London, UKSearch for other works by this author on:
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264 - 269: Fertility, Contraception, Incontinence and PregnancyByJ.G. Thorpe-BeestonJ.G. Thorpe-BeestonChelsea and Westminster Hospital, London, UKSearch for other works by this author on:
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270 - 277: Arthritis,Vasculitis and Bone DiseaseBySarah ElkinSarah ElkinRoyal Brompton Hospital, London, UKSearch for other works by this author on:
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278 - 283: Diabetes in Cystic FibrosisByKaren Spowart;Karen SpowartbPaediatric Diabetes Nurse Specialist,Chelsea and Westminster Hospital, London, UKSearch for other works by this author on:Nicola BridgesNicola BridgesaConsultant Paediatric Endocrinologist, andSearch for other works by this author on:
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286 - 292: Challenges for NursesBySusan MadgeSusan MadgeRoyal Brompton and Harefield NHS Trust, London, UKSearch for other works by this author on:
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293 - 300: DieteticsByAlison MortonAlison MortonbRegional Adult Cystic Fibrosis Unit, Leeds, UKSearch for other works by this author on:
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301 - 308: PhysiotherapyByJennifer A. Pryor;Jennifer A. PryoraDepartment of Cystic Fibrosis andSearch for other works by this author on:Eleanor Main;Eleanor MaincPortex Anaesthesia, Intensive Therapy & Respiratory Medicine Unit, Institute of Child Health, London, andSearch for other works by this author on:Penny Agent;Penny Agentb Physiotherapy Department, Royal Brompton Hospital andSearch for other works by this author on:Judy M. BradleyJudy M. BradleydHealth and Rehabilitation Sciences Research Institute, University of Ulster and Regional Adult Cystic Fibrosis Centre, Belfast City Hospital, Belfast, UKSearch for other works by this author on:
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309 - 313: Psychological InterventionsByMandy BryonMandy BryonGreat Ormond Street Hospital for Children NHS Trust, London, UKSearch for other works by this author on:
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316 - 322: The FutureByAndrew Bush;Andrew BushaDepartment of Paediatric Respiratory Medicine, Royal Brompton Hospital,Search for other works by this author on:Uta Griesenbach;Uta GriesenbachbDepartment of Gene Therapy, Imperial College,Search for other works by this author on:Jane C. Davies;Jane C. DaviesaDepartment of Paediatric Respiratory Medicine, Royal Brompton Hospital,bDepartment of Gene Therapy, Imperial College,Search for other works by this author on:Eric W.F.W. Alton;Eric W.F.W. AltonbDepartment of Gene Therapy, Imperial College,Search for other works by this author on:Adam JaffeAdam JaffecDepartment of Paediatric Respiratory Medicine,Great Ormond Street Children’s Hospital,London, UKSearch for other works by this author on: