Pediatric pulmonology
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Pediatric pulmonology · Mar 2014
Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia.
Ataxia telangiectasia (AT) is a genetic syndrome caused by a mutation of chromosome 11. The clinical features are cerebellar ataxia, telangiectasia, and progressive loss of muscular coordination, including an inefficient cough secondary to progression of neurological disease. ⋯ IMT was effective in improving ventilatory pattern, lung volume, respiratory muscle strength, and the health and vitality domains for quality of life in patients with AT. IMT may be an effective adjunct therapy to drug treatment for patients with AT.
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Pediatric pulmonology · Mar 2014
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment.
The mucopolysaccharidoses (MPS) comprise a group of inherited lysosomal storage disorders characterized by deficiencies in enzymes catalyzing the degradation of glycosaminoglycans. Impairment of pulmonary function is an important health problem for patients with MPS. However, there are few published reports on the prevalence and severity of pulmonary dysfunction in relation to age and treatment in this disorder. ⋯ Our additional characterization of the types and prevalence of pulmonary function abnormalities seen in MPS patients should be useful for clinical care.
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Pediatric pulmonology · Mar 2014
Case ReportsTen-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
We present a child with interstitial lung disease (ILD) who was diagnosed with desquamative interstitial pneumonitis following CT thorax and open lung biopsy aged 2 years. Subsequently, surfactant protein gene analysis revealed mutations in the ABCA3 gene. This case of ABCA3 deficient ILD describes a stable clinical course over 10 years and highlights the potential benefit of hydroxychloroquine for this condition.
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Pediatric pulmonology · Mar 2014
Case ReportsNull ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings.
A study was undertaken to analyze the clinical presentation, pulmonary function, and pathological features in two female siblings with neonatal pulmonary surfactant metabolism dysfunction, type 3 (MIM 610921). The clinical records of the siblings were examined; the genes encoding surfactant protein B (SFTPB), surfactant protein C (SFTPC), and ATP-binding cassette transporter 3 protein (ABCA3) were analyzed with direct sequencing and Southern blotting. The infants were homozygous for a 5,983 bp deletion in ABCA3 including exons 2-5 as well as the start AUG codon and a putative Golgi exit signal motif. ⋯ The clinical course in the two sisters was influenced by different environmental factors like the time needed for molecular confirmation, the ventilatory assistance adopted, the occurrence of infections. A less aggressive clinical approach did not improve the course of the disease; the prognosis was always poor. Development of a fast molecular test, able to detect also structural variants, is needed.
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Pediatric pulmonology · Mar 2014
Case ReportsOn the nature of pleural involvement in necrotizing pneumonia: a report of two cases of life threatening late complications.
Suppurative complications of pneumonia such as empyema, lung abscess, pyopneumothorax, and necrotizing pneumonia (NP) are uncommon in children. Over the last decade an increasing incidence of NP has been reported. Streptococcus pneumoniae continues to be the predominant causative organism of NP, and while sporadic cases were reported prior to routine administration of heptavalent pneumococcal vaccine, a marked increase in NP appears to relate to replacement pneumococcal strains. ⋯ After stabilization on prolonged IV antibiotics, and weeks after discharge, they presented with unexpected acute respiratory failure due to a life-threatening tension air collection. In this article we discuss the nature of NP, its typical presentation, benign course and outcome, albeit its potential to cause serious late complications in the light of our recent experiences. Increasing awareness of such complications will result in more careful follow-up and in providing appropriate recommendations to parents of patients recovering from NP.