CASE REPORT
An 11-year-old Chinese boy presented with chronic coughing,
expectoration, recurrent wheezing, and failure to thrive since his 2
months of age (Figure 1). He was frequently hospitalized due to
recurrent pneumonia and repeated respiratory distress approximately 6-10
times per year. In between all the admissions, the patient still
developed cough, wheeze, and occasional dyspnea. The first time he
presented to Henan children’s hospital was at his 7 years of age. Chest
CT scan and bronchoscope both showed bronchiectasis with mucus plugging.
Sputum/BALF culture was consistently positive with P. aeruginosa .
Lung function rapid declined (FEV1 29.0%, FVC 33.0%). Due to a strong
suspicion of CF, the first genetic test was performed. Unfortunately,
only c.1521_1523delCTT variant on maternal allele was detected, without
any variant observed on paternal allele. At 9 years of life, this
patient got exercise intolerance and was unable to wean off oxygen until
now. Another airway organism MRSA was isolated, which was only sensitive
to vancomycin.
At this time of admission, the boy presented in worse general condition.
Physical examination revealed a poor nutritional status (peripheral
oedema, weight < 3rd centile), hypoxemia with desaturation
down to 80% on room air, tachypnoea with nasal flaring (respiratory
rate of 36/min), bilateral generalized rhonchi and rales,
hepatosplenomegaly, and finger clubbing. Repeated CT scan showed the
deterioration of the lung structure and progressive bronchiectasis with
extensive mucus plugging (Figure 2). Expanded genetic testing for CF
revealed the c.3874-4522A>G variant deeply located in
intron 23 of the paternal allele and the diagnosis of CF was eventually
confirmed.
The boy was put on CPAP 7 days for worsening bronchospasm with
CO2 retention (73 mmHg), and weaned down to
NPO2 2L/min. He completed 14 days of IV antibiotic
regimen (ceftazidime combined with vancomycin), and treated with inhaled
hypertonic saline, inhaled tobramycin, and bronchoalveolar lavage (3
times) meanwhile. He got clinical improved and discharge on home oxygen
therapy after 14 days. Bilateral lung transplantation was recommended.
However, limited clinical experience and shortage of lung donors in
China made transplantation difficult. 3 months after discharge, he died
of cardiopulmonary failure.