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REVIEW article

Front. Pediatr.
Sec. Pediatric Pulmonology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1479620
This article is part of the Research Topic Impaired function of the respiratory pump Volume 2 View all articles

An overview of proactive monitoring and management of respiratory issues in Ataxia telangiectasia in the specialist and shared care paediatric clinic

Provisionally accepted
Jayesh Mahendra Bhatt Jayesh Mahendra Bhatt 1*Andrew Bush Andrew Bush 2
  • 1 Nottingham General Hospital, Nottingham, United Kingdom
  • 2 National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London, England, United Kingdom

The final, formatted version of the article will be published soon.

    Ataxia telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people (CYP) with A-T are affected with sino-pulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, and cutaneous and deep-organ granulomatosis and early death. Pulmonary complications become more frequent by the second decade of life and are a leading cause of death in individuals with A-T. Oropharyngeal dysphagia is common, progressive, and a risk factor for frequent respiratory infections. Immunodeficiency is non-progressive in most patients with A-T. If severe infections occur, one should be aware of other possible causes, such as aspiration. We provide an overview of current best practice recommendations, which are based on combinations of extrapolation from other diseases and expert opinion. These include proactive surveillance, monitoring and early management to improve lung health in A-T in this devastating multisystem disease.

    Keywords: Ataxia telangiectasia1, lung disease2, bronchiectasis3, aspiration4, interstitial lung diease5

    Received: 12 Aug 2024; Accepted: 27 Nov 2024.

    Copyright: © 2024 Bhatt and Bush. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Jayesh Mahendra Bhatt, Nottingham General Hospital, Nottingham, United Kingdom

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.