Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). Here we summarize, at the basic descriptive level, clinical and genetic characteristics of cystic fibrosis gene mutations, while emphasizing differences between CF mutations found in Chinese pediatric CF patients compared to those found in Caucasian CF patients. In addition, we describe animal models used to study human cystic fibrosis disease and highlight unique features of each model that mimic specific human CF‐associated signs and symptoms. At the clinical level, we summarize CF clinical manifestations and diagnostic, treatment, and prognostic methods to provide clinicians with information toward reducing CF misdiagnosis and missed diagnosis rates.

Background: Thrombotic disease is a rare but severe complication of Mycoplasma pneumoniae pneumonia in children, with pulmonary thrombosis (PT) being the most frequent type. This study aims to describe the clinical features of pediatric severe Mycoplasma pneumoniae pneumonia (SMPP) patients with PT, and to identify risk factors predictive of PT development in this population. Methods: We retrospectively enrolled 60 children with SMPP complicated by PT who were admitted to Children’s Hospital Affiliated to Zhengzhou University from January 2019 to October 2023. We reviewed their demographic data, laboratory tests and imaging examinations to describe their clinical features. We used multivariate logistic regression analysis to identify significant risk factors for PT in SMPP. Results: The PT group exhibited higher incidences of chest pain, hemoptysis, inflammation and elevated D-dimer levels, as well as more severe pulmonary damage and transaminitis complication, compared to the non-PT group. The left pulmonary artery was the predominant location of PT in SMPP children. A multivariate analysis revealed that C-reactive protein (CRP) and D-dimer were significant predictors of PT in SMPP patients, with odds ratios of 1.10 and 3.37, respectively. The optimal cutoff values of CRP and D-dimer for predicting PT in SMPP were 76.73 mg/L and 3.98 µg/mL, respectively. Conclusions: In SMPP, CRP >76.73 mg/L and D-dimer >3.98 µg/mL are independent predictors of PT. These findings suggest that SMPP-induced excessive inflammation may contribute to PT pathogenesis. Early and intensive anticoagulant, anti-inflammatory and antimycoplasma therapy may improve the disease course and prognosis.

Mediastinal teratoma is uncommon in children. It can be very difficult to diagnose especially in early stage. Rarely, teratoma may rupture into adjacent structures and lead to lung lesions or pleuritis. The main rarity of our reported cases was the dynamic imaging findings very similar to the developmental process of tuberculosis in patients 1 and 2, the pachypleuritis in patients 2 and 3, the extremely elevated inflammatory markers very similar to empyema in patient 3, and the extremely atypical tumor shape in all patients. We present three pediatric patients presenting predominantly with recurrent hemoptysis and/or chest pain who were ultimately diagnosed with mediastinal teratoma containing pancreatic tissue. All three patients were initially suspected to have tuberculosis or empyema, and underwent relevant treatment, but without improvement. Patient 1 had left hilar enlargement, and subsequently an enlarging calcified cavity within high-density consolidation was identified. Patient 2 initially presented with right-sided pulmonary consolidation and pleuritis, and subsequently developed right lower lobe calcification, pleural thickening, and irregular soft tissue in the right inferior mediastinum. Patient 3 was initially found to have right lobe consolidation accompanied by a massive right-sided pleural effusion with extremely elevated inflammatory markers in serum and pleural effusion. The effusion later acquired heterogeneous density and appeared to become encapsulated. In patients 2 and 3, pleural biopsy identified fibrous tissue (with and without granuloma). Thoracotomy/thoracoscopy revealed mediastinal teratoma in each case, all of which were completely excised and the patients made uneventful recoveries. Histopathologic analysis revealed mature cystic-solid teratoma containing pancreatic tissue in all patients, and calcification in patients 1 and 2. Clinicians should be mindful that mediastinal teratoma is a potential cause of hemoptysis, lung lesions and pleuritis. Calcification and pachypleuritis on chest imaging especially in patients without fever should be highly suspected of mediastinal teratoma. Pleural biopsy sometimes fails to assist in making a definitive diagnosis.

This study aim to investigate the role of endothelial damage in the pathogenesis of Mycoplasma pneumoniae pneumonia (MPP) by comparing serum levels of endothelial cell-specific molecule 1 (ESM-1) and Syndecan-1 in patients with varying degrees of MPP severity. Additionally, we aim to explore the relationship between the production of ESM-1 and Syndecan-1 and the severity of MPP, inflammation, as well as hypercoagulative state in children. A prospective, observational study that included clinical manifestations, laboratory tests, and serum ESM-1 and Syndecan-1 assays. The correlation between ESM-1 and Syndecan-1 levels with inflammatory markers and coagulation markers was analyzed. Multivariate logistic regression analysis was conducted to identify significant risk factors for Severe Mycoplasma pneumoniae pneumonia (SMPP). A total of 179 children with MPP and 40 healthy volunteers were enrolled. Serum ESM-1 and Syndecan-1 levels were significantly elevated in children with MPP compared to the healthy children (all P < 0.05). A multivariate analysis revealed that ESM-1, Syndecan-1, D-dimer and LDH were the significant predictors of SMPP, with odds ratios of 1.034, 1.002, 5.042 and 1.014, respectively. The optimal cutoff values of ESM-1, Syndecan-1, D-dimer and LDH for predicting SMPP were 79.67 ng/mL, 3219.35 pg/mL, 0.67 µg/mL and 365.00 U/L, respectively. ESM-1, Syndecan-1, D-dimer, and LDH can serve as independent predictors for SMPP. The interaction between endothelial damage, excessive inflammatory response, and hypercoagulable state collectively contributes to the development and progression of SMPP.

Background: Despite growing awareness of primary ciliary dyskinesia (PCD) in northern China, few cases have been reported in central China, the most populous region in the country. This study aimed to describe the clinical phenotype and genotype of children with PCD in central China.Methods: We retrospectively recruited 15 patients with PCD from January 2018 to July 2024. The demographic data, clinical characteristics, laboratory and imaging findings were reviewed to clarify the clinical features. Whole exome sequencing was conducted to identify the genotype.Results: The mean age at diagnosis was 8.2 ± 4.8 years. All 15 patients (100%) experienced recurrent wet cough; 93.3% (14/15) had sinusitis, 80.0% (12/15) had otitis media, and 46.7% (7/15) had neonatal respiratory distress. Chest computed tomography revealed that 93.3% (14/15) had nodular shadows and tree-in-bud signs, and 80.0% (12/15) had varying degrees of bronchiectasis. The most common pathogen in the airway was Haemophilus influenzae (9/15, 60.0%). The genes with the highest incidence of variants were DNAH5 (6/13), followed by DNAH11 (3/13). The DNAAF2, DNAH9, DNAAF6, and DNAAF3 genes each were mutated once. Fifteen novel variants were identified.Conclusion: PCD is underdiagnosed in central China. The phenotype is characterized by a significant male predominance. Additionally, the incidence of neonatal respiratory distress and situs inversus is notably lower compared to Western countries. The most frequently identified gene responsible for PCD was DNAH5.

Objectives: To characterize the clinical features and to identify the predictors of recurrence of histiocytic necrotizing lymphadenitis (HNL) in Chinese children. Study design: This study retrospectively analyzed the clinical characteristics, laboratory and pathological findings, and recurrence status of children diagnosed with HNL at a single center in China from January 2018 to May 2023. Logistic regression analysis was employed to identify predictors of HNL recurrence. Results: 181 Chinese children with histopathologically confirmed HNL were enrolled (121 males and 60 females). The mean age was 9.3 ± 2.9 years. The most prominent clinical features were fever (98.9%) and cervical lymphadenopathy (98.3%). Aseptic meningitis was the most frequent complication (38.5%), while hemophagocytic lymphohistiocytosis and autoimmune disease were rare (1.7% and 1.2%, respectively). Recurrence occurred in 12.7% of patients. Erythrocyte sedimentation rate (> 30 mm/h) was the significant predictors of HNL recurrence, with odds ratios of 6.107, respectively. Conclusion: Our study demonstrates that fever and cervical lymphadenopathy are the most frequent clinical manifestations of HNL in Chinese children, which often coexist with aseptic meningitis. HNL patients with risk factors require follow-up for recurrence.