title: ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.
abstract: Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.
authors.affiliation: Nottingham Children's Hospital, UK Paediatric National Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK jayeshbhatt@hotmail.com.
authors.forename: Jayesh M
authors.initials: JM
authors.lastname: Bhatt
authors.affiliation: Imperial College and Royal Brompton Hospital, London, UK.
authors.forename: Andrew
authors.initials: A
authors.lastname: Bush
authors.affiliation: Dept of Paediatrics, Division of Respiratory Medicine, Amalia Children's Hospital Radboud, University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Marjo
authors.initials: M
authors.lastname: van Gerven
authors.affiliation: Rare Diseases Service and Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Tel HaShomer, Israel Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Andreea
authors.initials: A
authors.lastname: Nissenkorn
authors.affiliation: Dept of Allergology, Pneumology and Cystic Fibrosis, Children's Hospital, Goethe-University Theodor-Stern Kai, Frankfurt/Main, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Renke
authors.affiliation: The A-T Society, IACR-Rothamsted, Harpenden, UK.
authors.forename: Lian
authors.initials: L
authors.lastname: Yarlett
authors.affiliation: School of Cancer Sciences, University of Birmingham, Birmingham, UK.
authors.forename: Malcolm
authors.initials: M
authors.lastname: Taylor
authors.affiliation: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
authors.forename: Thomy
authors.initials: T
authors.lastname: Tonia
authors.affiliation: Institute of Medical Sciences, University of Aberdeen and the Royal Aberdeen Children's Hospital, Aberdeen, UK.
authors.forename: Adilia
authors.initials: A
authors.lastname: Warris
authors.affiliation: Dept of Allergology, Pneumology and Cystic Fibrosis, Children's Hospital, Goethe-University Theodor-Stern Kai, Frankfurt/Main, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Zielen
authors.affiliation: Nottingham Children's Hospital, UK Paediatric National Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK.
authors.forename: Shairbanu
authors.initials: S
authors.lastname: Zinna
authors.affiliation: Dept of Paediatrics, Division of Respiratory Medicine, Amalia Children's Hospital Radboud, University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Peter J F M
authors.initials: PJ
authors.lastname: Merkus
mesh_terms: D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality / Q000503:physiopathology / Q000628:therapy*; D003131:Combined Modality Therapy; D015897:Comorbidity; D003299:Cooperative Behavior; D020022:Genetic Predisposition to Disease; D006801:Humans; D033183:Interdisciplinary Communication; D008168:Lung / Q000276:immunology / Q000473:pathology / Q000503:physiopathology; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000401:mortality / Q000503:physiopathology / Q000628:therapy*; D010348:Patient Care Team / Q000592:standards*; D011237:Predictive Value of Tests; D015272:Pulmonary Medicine / Q000592:standards*; D012307:Risk Factors; D013147:Spirometry / Q000592:standards; D014057:Tomography, X-Ray Computed / Q000592:standards; D016896:Treatment Outcome