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 Jayesh M. Bhatt
A1 Andrew Bush
A1 Marjo van Gerven
A1 Andreea Nissenkorn
A1 Michael Renke
A1 Lian Yarlett
A1 Malcolm Taylor
A1 Thomy Tonia
A1 Adilia Warris
A1 Stefan Zielen
A1 Shairbanu Zinna
A1 Peter J.F.M. Merkus
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