An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic
Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to...
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Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1479620/full |
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| author | Jayesh Mahendra Bhatt Andrew Bush |
| author_facet | Jayesh Mahendra Bhatt Andrew Bush |
| author_sort | Jayesh Mahendra Bhatt |
| collection | DOAJ |
| description | Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in 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 this devastating multisystem disease. |
| format | Article |
| id | doaj-art-181c31b7f54d42bab1226d1b969c057f |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-181c31b7f54d42bab1226d1b969c057f2024-12-23T06:38:40ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-12-011210.3389/fped.2024.14796201479620An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinicJayesh Mahendra Bhatt0Andrew Bush1Nottingham University Hospitals NHS Trust, Children's Respiratory Service, Nottingham, United KingdomPaediatrics and Paediatric Respirology, National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London, United KingdomAtaxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in 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 this devastating multisystem disease.https://www.frontiersin.org/articles/10.3389/fped.2024.1479620/fullAtaxia-telangiectasialung diseasebronchiectasisaspirationinterstitial lung disease |
| spellingShingle | Jayesh Mahendra Bhatt Andrew Bush An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic Frontiers in Pediatrics Ataxia-telangiectasia lung disease bronchiectasis aspiration interstitial lung disease |
| title | An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic |
| title_full | An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic |
| title_fullStr | An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic |
| title_full_unstemmed | An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic |
| title_short | An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic |
| title_sort | overview of proactive monitoring and management of respiratory issues in ataxia telangiectasia in a specialist and shared care pediatric clinic |
| topic | Ataxia-telangiectasia lung disease bronchiectasis aspiration interstitial lung disease |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1479620/full |
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