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Lung involvement in the multisystem syndrome CHARGE association

R Sporik1, R Dinwiddie, C Wallis

  • 1The Respiratory Unit, Great Ormond Street Hospital for Children, NHS Trust, London, UK.

The European Respiratory Journal
|June 1, 1997
PubMed

Insights

Respiratory issues like aspiration and infections are common in CHARGE association, leading to significant childhood mortality. Early diagnosis and treatment of these pulmonary complications are crucial for improving outcomes in affected children.

Area of Science:

  • Pediatrics
  • Genetics
  • Pulmonology

Background:

  • CHARGE association is a complex multisystem disorder with variable clinical presentations.
  • Pulmonary complications significantly contribute to morbidity and mortality, particularly in infants and young children.
  • Understanding these respiratory implications is vital for patient management.

Purpose of the Study:

  • To quantify the pulmonary involvement in individuals diagnosed with CHARGE association.
  • To identify the prevalence of aspiration, recurrent chest infections, and lung involvement in this cohort.
  • To assess the contribution of lung issues to mortality within the CHARGE association population.

Main Methods:

  • A hospital-based audit was conducted.
  • Medical records of 47 patients (28 boys, 19 girls) with a confirmed CHARGE diagnosis were reviewed.
  • Data on pulmonary complications, including aspiration and infections, were analyzed.

Main Results:

  • Aspiration was suspected in 47% of cases, often linked to swallowing difficulties and gastro-oesophageal reflux in infancy.
  • Recurrent chest infections were present in 47% of the patients.
  • Lung involvement was a contributing factor in 41% of the recorded deaths (7 out of 17).

Conclusions:

  • Respiratory morbidity and mortality are substantial challenges in CHARGE association.
  • The incidence of pulmonary issues appears to decrease with increasing age.
  • Prompt diagnosis and therapeutic interventions are essential for optimizing the prognosis in CHARGE patients.

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