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.