Figures
- FIGURE 1
A plain chest radiograph of a patient with ataxia telangiectasia showing diffuse bibasal interstitial changes.
- FIGURE 2
Chest computed tomography scan of a patient with ataxia telangiectasia showing diffuse bibasilar interstitial and interlobular reticular opacities with interlobular septal thickening, and bronchiectasis in the right lower lobe. Note that any radiological imaging should use the minimum possible doses, and concerns about radiosensitivity need to be addressed.
Tables
- TABLE 1
Clinical manifestations of ataxia telangiectasia
Respiratory# Recurrent respiratory tract infections including otitis media, sinusitis, bronchitis and pneumonia Bronchiectasis secondary to recurrent/chronic infection and aspiration Interstitial lung disease Obliterative bronchiolitis Aspiration syndromes due to incoordinate swallowing Opportunistic infections Restrictive lung disease due to scoliosis, neuromuscular disease or fibrosis Immunodeficiencies Clinically not apparent in all patients Variable degrees Generally nonprogressive IgA and IgG2 deficiency most common Low total IgG and IgE also seen Poor polysaccharide antibody responses Variable cellular immunodeficiency (low numbers of T- and B-cells) Increased risk of malignancy Mainly lymphoid tumours (in patients aged <16 years) Lymphoid and nonlymphoid tumours in older patients Neurological¶ Neurodegeneration of the cerebellum Progressive cerebellar ataxia Oculomotor apraxia Movement disorders: chorea, dystonia Other¶ Ocular, cutaneous and mucosal telangiectasias Accelerated ageing Diabetes mellitus #: there are no pulmonary telangiectasias; ¶: not reviewed in this article.
- TABLE 2
Replacement Ig replacement therapy in ataxia telangiectasia
Study design [ref.] Subjects n Subjects receiving Ig therapy (%) Retrospective [10] 80 12.5# Retrospective [12] 100 13 Retrospective [23] 15 60 Retrospective [9] 240 34.8¶ Retrospective [27] 44 15.9 Retrospective [28] 100 18.8 #: 17% of those with null mutations; ¶: 75.6% of the patients with bronchiectasis.
Vol 24 Issue 138
Table of Contents
ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia
Jump To
- Article
- Abstract
- Abstract
- Introduction
- Methods
- Phenotypes of respiratory disease in A-T
- Immune deficiency
- Interstitial lung disease
- Respiratory monitoring
- Sleep-related breathing disorder
- Cough and mucociliary clearance
- Genotype/phenotype correlation in A-T
- Nutritional effects on lung disease and immune function
- Dyscoordinate swallowing, aspiration, gastro-oesophageal reflux and gastrostomy
- Scoliosis in A-T
- Risks of diagnostic radiation in A-T
- Cancer in A-T
- Perioperative management of a patient with A-T undergoing surgery
- Organisation of care for lung disease in A-T
- Footnotes
- References
- Figures & Data
- Info & Metrics