Diffuse panbronchiolitis: A case report from a Chinese consanguineous marriage family and literature review

Abstract

Diffuse panbronchiolitis (DPB) is a chronic diffuse airway inflammatory disease, which is strongly associated with the class I human leukocyte antigen (HLA) alleles. Here, we report a pair of sisters who have been suffering from chronic cough, expectoration and wheezing for many years. They were previously misdiagnosed as chronic bronchitis and bronchial asthma, and were recently diagnosed as diffuse panbronchiolitis. The 36-year-old elder sister suffered from diffuse panbronchiolitis complicated with pulmonary tuberculosis. The 30-year-old younger sister suffered from diffuse panbronchiolitis complicated with bronchial asthma and bronchiectasis. We have performed HLA genotyping research on the two sisters, their parents and younger brother. The results showed that all family members were positive for HLA-A24 and HLA-B13. The younger sister and mother were positive for HLA-A2. The younger brother and father were positive for HLA-A11. We suspect that the two sisters’ disease susceptibility may be caused by their parents’ consanguineous marriage. In this study, we reported the clinical characteristics of the two sisters with diffuse panbronchiolitis and shared the associated HLA genotyping results of this family cluster, hoping to provide reference for the etiology, diagnosis and treatment of this disease.

Good's syndrome with diffuse panbronchiolitis as the prominent manifestation: A case and literature review

“…Before the diagnosis of DPB, she was misdiagnosed as having COPD, which may be related to clinicians' insufficient understanding of DPB. 4 , 12 , 15 Chinese DPB patients have a low positive rate of the serum cold agglutination test, 7 , 17 , 18 and the patient in this case was negative in such test, further confirming that the difference in laboratory test results between Chinese patients and Japanese patients of DPB may be related to ethnic differences. This would suggest that the diagnostic significance of serum cold agglutination test for Chinese DPB patients is not as important as for Japanese patients.…”

“…The patient in this case had recurrent cough and expectoration for 3 years. Before the diagnosis of DPB, she was misdiagnosed as having COPD, which may be related to clinicians' insufficient understanding of DPB 4,12,15 . Chinese DPB patients have a low positive rate of the serum cold agglutination test, 7,17,18 and the patient in this case was negative in such test, further confirming that the difference in laboratory test results between Chinese patients and Japanese patients of DPB may be related to ethnic differences.…”

“… 11 Typical manifestations of DPB include chronic cough, expectoration and exertional dyspnoea, history of chronic sinusitis, high titre of serum cold agglutination test, centrilobular nodule shadow with tree‐in‐bud sign widely distributed in both lungs on chest CT scan and so on. 11 , 12 Akira et al 13 classified the patients into four stages according to the radiographic findings of DPB: Stage 1, diffuse centrilobular nodules; Stage 2, tree‐in‐bud sign; Stage 3, bronchiectasis in peripheral areas; and Stage 4, bronchiectasis in the central area. The pathological features of DPB are full‐thickness respiratory bronchiolitis with infiltration of lymphocytes, plasma cells and so on.…”

“…Chinese literature shows that most patients were misdiagnosed as chronic bronchitis, COPD or other lung diseases before diagnosis. 4,12,15 The presence of sinusitis and the isolation of P. aeruginosa in the sputum are often associated with DPB, and the understanding of such association may improve the diagnosis. 4,16 The patient in this case had recurrent cough and expectoration for 3 years.…”

“…Chinese literature shows that most patients were misdiagnosed as chronic bronchitis, COPD or other lung diseases before diagnosis 4,12,15 . The presence of sinusitis and the isolation of P .…”