RT Journal Article
SR Electronic
T1 ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia
JF European Respiratory Review
JO EUROPEAN RESPIRATORY REVIEW
FD European Respiratory Society
SP 565
OP 581
DO 10.1183/16000617.0066-2015
VO 24
IS 138
A1 Bhatt, Jayesh M.
A1 Bush, Andrew
A1 van Gerven, Marjo
A1 Nissenkorn, Andreea
A1 Renke, Michael
A1 Yarlett, Lian
A1 Taylor, Malcolm
A1 Tonia, Thomy
A1 Warris, Adilia
A1 Zielen, Stefan
A1 Zinna, Shairbanu
A1 Merkus, Peter J.F.M.
YR 2015
UL http://err.ersjournals.com/content/24/138/565.abstract
AB 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.Complex respiratory manifestations in ataxia telangiectasia require regular, proactive multidisciplinary management http://ow.ly/Solqe