This patient is the younger sister of the above patient. She is a 30-year-old female who was admitted to our hospital due to persistent cough, expectoration, hemoptysis and dyspnea. The patient began to suffer from recurrent cough and hemoptysis at the age of 15. She started experiencing productive purulent sputum at the age of 20, and the amount of sputum increased year by year. The above-mentioned symptoms occurred repeatedly and progressively worsened, presenting with exertional dyspnea at the age of 24. Case 2 had recurrent episodes of wheezing, chest tightness and cough, especially after exposure to cold air, pungent odor and exercise. The wheezing sound can be heard in both lungs during an attack. Pulmonary function result from a local hospital showed an FEV1/FVC ratio of 63% and a positive bronchodilation test (FEV1 increased by >=12% and >=200 ml in absolute value after inhalation of beta2 agonists such as salbutamol). In 2010, she was diagnosed with bronchiectasis and asthma in the local hospital. Treatment with budesonide and formoterol fumarate powder for inhalation (160 ug, twice a day) did not lead to any improvement, thus leading to admission to our hospital for further examination and treatment.
Like her elder sister, she suffered from chronic sinusitis from childhood. Physical examination on admission revealed diffuse expiratory wheezes and coarse crackles in both lungs. Pulmonary function test showed that FEV1/FVC was 63.0% (Table 1). Blood gas analysis showed hypoxemia with PaO2 of 75 mmHg and oxygenation index of 187.5 mmHg. Chest CT showed bronchiectasis and diffuse small nodules in both lungs (Figure 5). Paranasal sinus CT showed bilateral maxillary sinusitis and ethmoid sinusitis (Figure 2C, 2D). Cold agglutinin level was in the normal range. Other relevant examinations such as routine blood tests, procalcitonin, sputum smear, sputum culture, bronchoscopy, tuberculosis screening, etc. showed no obvious abnormalities. In view of her symptoms, signs, history of sinusitis, chest imaging, pulmonary function and laboratory findings, we have confirmed her diagnosis of diffuse panbronchiolitis. We treated the case 2 with azithromycin (500 mg per day) and prednisone acetate (30 mg per day), and the respiratory symptoms of her were obviously improved. However, the case 2 developed diarrhea during the use of azithromycin and did not take macrolide drugs regularly, resulting in her repeated condition and difficulty in recovery.
The two sisters grew up in different living environments, but they had similar manifestations of diffuse panbronchiolitis. More importantly, we learned that their parents are cousins, and their disease susceptibility may be attributed to their parents' consanguineous marriage. Therefore, we conducted HLA genotyping tests on the two sisters, their parents and brother. The results revealed that the case 1 and case 2 were negative for HLA-A11 and HLA-B54, but the father and younger brother were positive for HLA-A11 (Table 2). Therefore, we performed chest CT and sinus CT examination on the father and brother. The results showed no obvious abnormalities in their chest CT, but father's sinus CT showed bilateral maxillary sinus inflammation (Figure 6B).