CRA66 IDIOPATHIC BRONCHIECTASIS: GENUINE ENTITY OR ARTIFACT OF LIMITED DIAGNOSTICS

Norsyuhada zaharudin1,

1.      Medical Department, Bintulu Hospital

Introduction
Bronchiectasis is a chronic respiratory disease characterised by permanent enlargement of airways associated with cough, sputum production and a history of pulmonary exacerbations[1]. In some cases, extensive investigations fail to reveal a clear cause. Our case demonstrated that a previously healthy adolescent boy was found to have cystic bronchiectasis during hospitalisation for severe pneumonia, with no definitive underlying cause identified due to limitations in the diagnostic workup.

Case presentation
A previously healthy 13-year-old boy presented with fever, right thigh pain, poor oral intake, and generalised weakness. He developed septic shock, requiring intubation and inotropic support. Investigations revealed elevated inflammatory markers, hypoxia with metabolic acidosis, and bilateral lung opacities on CXR, which progressed during admission. He later developed bilateral pneumothoraces, requiring chest tube insertion. Pleural fluid was exudative, and cultures (blood and ETT) grew methicillin-sensitive Staphylococcus aureus (MSSA). He completed 14 days of IV cloxacillin and cefazolin post-culture clearance. Cardiac and abdominal imaging were unremarkable. Despite the intervention, his lungs failed to re-expand, and a tracheostomy was needed due to prolonged ventilation. CT thorax showed bilateral active infection, cystic bronchiectasis, and pneumothoraces. Extensive investigations for the underlying causes of bronchiectasis were negative, except for a missing sweat test and CFTR gene analysis. He later developed hospital-acquired pneumonia with Pseudomonas aeruginosa, treated with IV and oral antibiotics over six weeks. He was eventually discharged with a P-Eggy chest drain. His residual left pneumothorax resolved after two blood patch procedures. He remains under respiratory follow-up for bronchiectasis and is currently stable.

Discussion
Bronchiectasis is a long-term lung condition with multiple possible etiologies. Repeated chest infection is the most frequent cause. The genetic conditions linked to bronchiectasis include cystic fibrosis, primary ciliary dyskinesia, immunodeficiency disorders, and alpha-1 antitrypsin deficiency. It is also associated with other health conditions such as asthma, chronic obstructive pulmonary disease (COPD), rheumatoid arthritis, and inflammatory bowel disease. [2]. While bronchiectasis is usually diagnosed after long-term symptoms and recurrent infections, it can also be detected after a first episode of severe necrotizing pneumonia if significant airway damage occurs [3]. The causes are investigated based on the suspected aetiology. In some cases, the cause remains unidentified even after extensive testing. This may be due to contributing factors—such as gastroesophageal reflux disease or mild, chronic immunodeficiency—that are not routinely evaluated through standard etiological testing.[4] In another cases, the underlying cause of bronchiectasis may remain unidentified due to undiagnosed genetic disorders. In practice, clinicians often face challenges in accessing these tests. This may be due to limited awareness among healthcare providers about the range of rare genetic conditions that can contribute to chronic lung disease, the misconception that identifying a genetic cause would not impact treatment decisions, or restricted access to appropriate diagnostic testing

Conclusion
In most cases, the cause of bronchiectasis remains unknown, largely due to limitations in available diagnostic tools.

References

  1. Nigro, M., et al., Epidemiology of bronchiectasis. European Respiratory Review, 2024. 33(174): p. 240091.
  2. Polverino, E., et al., European Respiratory Society guidelines for the management of adult bronchiectasis. European Respiratory Journal, 2017. 50(3): p. 1700629.
  3. Blauvelt, D.G., et al., Necrotising pneumonia and bronchiectasis in a previously healthy 30-year-old man. BMJ Case Rep, 2015. 2015.
  4. Gómez-Olivas, J.D., G. Oscullo, and M. Martínez-García, Idiopathic bronchiectasis. What are we talking about? J Bras Pneumol, 2023. 49(5): p. e20230249.