Objective: To evaluate the value of nasal nitric oxide (nNO) measurement as a diagnostic tool for Chinese patients with primary ciliary dyskinesia (PCD). Methods: This study is a retrospective study. The patients were recruited from those who were admitted to the respiratory Department of Respiratory Medicine, Children's Hospital of Fudan University from March 2018 to September 2022. Children with PCD were included as the PCD group, and children with situs inversus or ambiguus, cystic fibrosis (CF), bronchiectasis, chronic suppurative lung disease and asthma were included as the PCD symptom-similar group. Children who visited the Department of Child health Care and urology in the same hospital from December 2022 to January 2023 were selected as nNO normal control group. nNO was measured during plateau exhalation against resistance in three groups. Mann-Whitney U test was used to analyze the nNO data. The receiver operating characteristic of nNO value for the diagnosis of PCD was plotted and, the area under the curve and Youden index was calculated to find the best cut-off value. Results: nNO was measured in 40 patients with PCD group, 75 PCD symptom-similar group (including 23 cases of situs inversus or ambiguus, 8 cases of CF, 26 cases of bronchiectasis or chronic suppurative lung disease, 18 cases of asthma), and 55 nNO normal controls group. The age of the three groups was respectively 9.7 (6.7,13.4), 9.3 (7.0,13.0) and 9.9 (7.3,13.0) years old. nNO values were significantly lower in children with PCD than in PCD symptom-similar group and nNO normal controls (12 (9,19) vs. 182 (121,222), 209 (165,261) nl/min, U=143.00, 2.00, both P<0.001). In the PCD symptom-similar group, situs inversus or ambiguus, CF, bronchiectasis or chronic suppurative lung disease and asthma were significantly higher than children with PCD (185 (123,218), 97 (52, 132), 154 (31, 202), 266 (202,414) vs. 12 (9,19) nl/min,U=1.00, 9.00, 133.00, 0, all P<0.001). A cut-off value of 84 nl/min could provide the best sensitivity (0.98) and specificity (0.92) with an area under the curve of 0.97 (95%CI 0.95-1.00, P<0.001). Conclusions: nNO value can draw a distinction between patients with PCD and others. A cut-off value of 84 nl/min is recommended for children with PCD.
Humans ; Child ; Adolescent ; Nitric Oxide ; Retrospective Studies ; Cystic Fibrosis ; Bronchiectasis/diagnosis* ; Asthma/diagnosis* ; Hospitals, Pediatric ; Ciliary Motility Disorders/diagnosis*

Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a challenge for radiologists. As the first diagnostic step, cysts should be distinguished from cavities, bullae, pneumatocele, emphysema, honeycombing, and cystic bronchiectasis. Second, cysts can be categorized as single/localized versus multiple/diffuse. Solitary/localized cysts include incidental cysts and congenital cystic diseases. Multiple/diffuse cysts can be further categorized according to the presence or absence of associated radiologic findings. Multiple/diffuse cysts without associated findings include lymphangioleiomyomatosis and Birt-Hogg-Dubé syndrome. Multiple/diffuse cysts may be associated with ground-glass opacity or small nodules. Multiple/diffuse cysts with nodules include Langerhans cell histiocytosis, cystic metastasis, and amyloidosis. Multiple/diffuse cysts with ground-glass opacity include pneumocystis pneumonia, desquamative interstitial pneumonia, and lymphocytic interstitial pneumonia. This stepwise radiologic diagnostic approach can be helpful in reaching a correct diagnosis for various cystic lung diseases.
Amyloidosis ; Birt-Hogg-Dube Syndrome ; Bronchiectasis ; Diagnosis ; Emphysema ; Histiocytosis ; Histiocytosis, Langerhans-Cell ; Lung Diseases ; Lung Diseases, Interstitial ; Lung ; Lymphangioleiomyomatosis ; Neoplasm Metastasis ; Pneumonia, Pneumocystis

Idiopathic nonspecific interstitial pneumonia (NSIP) is one of the varieties of idiopathic interstitial pneumonias. Diagnosis of idiopathic NSIP can be done via multidisciplinary approach in which the clinical, radiologic, and pathologic findings were discussed together and exclude other causes. Clinical manifestations include subacute or chronic dyspnea and cough that last an average of 6 months, most of which occur in non-smoking, middle-aged women. The common findings in thoracic high-resolution computed tomography in NSIP are bilateral reticular opacities, traction bronchiectasis, reduced volume of the lobes, and ground-glass opacity in the lower lungs. These lesions can involve diffuse bilateral lungs or subpleural area. Unlike usual interstitial pneumonia, honeycombing is sparse or absent. Pathology shows diffuse interstitial inflammation and fibrosis which are temporally homogeneous, namely NSIP pattern. Idiopathic NSIP is usually treated with steroid only or combination with immunosuppressive agents such as azathioprine, cyclophosphamide, cyclosporine, and mycophenolate mofetil. Prognosis of idiopathic NSIP is better than idiopathic pulmonary fibrosis. Many studies have reported a 5-year survival rate of more than 70%.
Azathioprine ; Bronchiectasis ; Cough ; Cyclophosphamide ; Cyclosporine ; Diagnosis ; Dyspnea ; Female ; Fibrosis ; Humans ; Idiopathic Interstitial Pneumonias ; Idiopathic Pulmonary Fibrosis ; Immunosuppressive Agents ; Inflammation ; Lung ; Lung Diseases, Interstitial ; Pathology ; Prognosis ; Survival Rate ; Traction

Woakes' syndrome is a group of disease which include recurrent nasal polyps resulting in the broadening of the nasal pyramid, the onset of hypoplasia of frontal sinus and bronchiectasis, as well as the production of mucous discharge. Children and young adults are mostly susceptible to Woakes' syndrome due to the plasticity of the bone. Even though the exact etiology is unknown, genetic factor is thought to be influential because it is often diagnosed in siblings. Otolaryngologically, the mainstream method of removing nasal polyp by endoscopic sinus surgery as well as topical or systemic treatment can be helpful. We report two siblings who visited our clinic both complaining of nasal obstruction. The patients presented with recurrent nasal polyps and showed signs of bronchiectasis, which led to the diagnosis of Woakes' syndrome. These rare cases are presented here with a review of related literature.
Bronchiectasis ; Child ; Diagnosis ; Fibrinogen ; Frontal Sinus ; Humans ; Methods ; Nasal Obstruction ; Nasal Polyps ; Plastics ; Siblings ; Young Adult

Asthma in the elderly tends to be underdiagnosed and undertreated despite its high morbidity and mortality. The diagnosis and management of asthma in the elderly is essentially the same as in adult patients. For diagnosis, spirometry is crucial, in addition to an assessment of typical symptoms; for management, the use of an inhaled corticosteroid is essential to control asthma. In elderly asthmatics, medications controlling asthma appear to be less efficacious than in younger asthmatics, and show more adverse effects. Other diseases with symptoms similar to asthma in the elderly are chronic obstructive pulmonary disease, tuberculous destroyed lung, bronchiectasis, lung cancer, and heart disease, and care should therefore be taken to differentiate these conditions from asthma. Vaccinations for influenza and pneumococcus are recommended for elderly individuals with asthma.
Adult ; Aged ; Asthma ; Bronchiectasis ; Diagnosis ; Heart Diseases ; Humans ; Influenza, Human ; Lung ; Lung Neoplasms ; Mortality ; Pulmonary Disease, Chronic Obstructive ; Spirometry ; Streptococcus pneumoniae ; Vaccination

Primary ciliary dyskinesia is a disease characterized by unexplained neonatal respiratory distress, otitis media, chronic sinusitis, and chronic bronchiectasis. In approximately half of cases, situs inversus totalis or other laterality defects are found. The incidence ranges from 1 in 4,000 to 1 in 40,000 live births. Early diagnosis is important and the disease is finally confirmed by electron microscopic biopsy. The treatment of primary ciliary dyskinesia is based on appropriate procedures. We present a rare case of a 20-year-old male with bronchiectasis, chronic otitis media and chronic sinusitis.
Biopsy ; Bronchiectasis ; Early Diagnosis ; Humans ; Incidence ; Kartagener Syndrome* ; Live Birth ; Male ; Otitis Media ; Sinusitis ; Situs Inversus ; Young Adult

OBJECTIVE: Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. MATERIALS AND METHODS: From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. RESULTS: Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). CONCLUSION: Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features.
Asthma ; Bronchiectasis ; Bronchiolitis ; Cystic Fibrosis* ; Diagnosis ; Fibrosis* ; Humans ; Kartagener Syndrome ; Korea* ; Lung ; Mucus ; Thorax* ; Tomography, X-Ray Computed*

PURPOSE: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. METHODS: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. RESULTS: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. CONCLUSIONS: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.
Agammaglobulinemia* ; Amino Acid Substitution ; B-Lymphocytes ; Bacterial Infections ; Bronchiectasis ; Codon, Nonsense ; Diagnosis ; Early Diagnosis ; gamma-Globulins ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Mothers ; Neutropenia ; Protein-Tyrosine Kinases ; Seoul ; Sinusitis

PURPOSE: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. METHODS: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. RESULTS: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. CONCLUSIONS: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.
Agammaglobulinemia* ; Amino Acid Substitution ; B-Lymphocytes ; Bacterial Infections ; Bronchiectasis ; Codon, Nonsense ; Diagnosis ; Early Diagnosis ; gamma-Globulins ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Mothers ; Neutropenia ; Protein-Tyrosine Kinases ; Seoul ; Sinusitis

BACKGROUND: Allergic bronchopulmonary aspergillosis (ABPA) in children with asthma, not associated with cystic fibrosis, is yet to receive the recognition it deserves. OBJECTIVE: To highlight the presentation of ABPA in children with asthma. METHODS: This retrospective review documents the occurrence of pediatric ABPA over a period of 31 years in one unit. Children with asthma, eosinophilia and infiltrates on chest radiograph were screened for ABPA. In these patients, demonstration of immediate hypersensitivity response against Aspergillus species along with serological profile and pulmonary function testing were done. Bronchography/computed tomography (CT) of the chest demonstrated central bronchiectasis (CB). CT of the paranasal sinuses was done in patients with upper airways symptoms. In those suspected with allergic Aspergillus sinusitis (AAS) consent was sought from the parents for the invasive procedure needed for the diagnosis of AAS. RESULTS: Of the 349 patients with ABPA diagnosed, 42 (12.03%) were in the pediatric age group. The mean age on presentation was 12.9 ± 4 years with a male preponderance. All patients had asthma and positive intradermal/skin prick test against Aspergillus species. Ring shadows, the most common radiological presentation, were seen in 28 of 42 patients. Bronchography/CT of the chest demonstrated CB, a feature pathognomic of ABPA, in 32 of 42 patients. High attenuation mucus plugs was observed in 7 of 36 patients while ABPA-seropositive was diagnosed in 10 of 42 patients. On imaging, sinusitis was seen in 20 of 30 patients with upper airways symptoms of whom eight had suspected AAS. Three parents consented for surgery, which confirmed the diagnosis. CONCLUSION: This study highlights the need to evaluate asthmatic children for ABPA as also to exclude AAS.
Aspergillosis, Allergic Bronchopulmonary ; Aspergillus ; Asthma ; Bronchiectasis ; Child ; Cystic Fibrosis ; Diagnosis ; Eosinophilia ; Humans ; Hypersensitivity, Immediate ; Male ; Mucus ; Paranasal Sinuses ; Parents ; Radiography, Thoracic ; Respiratory Function Tests ; Retrospective Studies ; Sinusitis ; Thorax