Background: Lymphatic plastic bronchitis (PB) most commonly occurs in children with congenital heart disease as a result of secondary pulmonary lymphatic flow disorder (PLFD). However, PB caused by primary PLFD is rare. We made a retrospective analysis of two children diagnosed with PB due to primary PLFD, in order to contribute to further understanding of these disorders. Results: Patient 1, an eight-year-old boy, presented with chronic productive cough and expectorated milky-white mucous plugs accompanied by intermitted wheezing for one year. Patient 2, a nine-month-old girl, presented with episodes of acute respiratory distress with expectoration of milky-white bronchial casts for four months. There was no obvious evidence of infection in either child. Bronchoscopy showed massive milky-white casts blocking the airway in patient 2; no casts were observed in patient 1. Bilateral thickening of bronchovascular bundles and interlobular septal, as well as multiple patchy ground-glass opacities were seen on chest computed tomography (CT) in both patients. Lymphangioscintigraphy demonstrated pulmonary lymph reflux in both patients and slowed lymphatic drainage of the lower limbs in patient 1. Primary PLFD was considered for both patients, and a diagnosis of yellow nail syndrome was made in patient 1. Both patients received lymphatic interventional treatment, but all experienced recurrence following the procedure. Conclusions: Primary PLFD is a rare but significant cause of PB in children. Chest CT findings have highly suggestive significance for the diagnosis. The lymphatic interventional procedure may be effective for short-term resolution of symptoms, but prone to recurrence.

Objectives: To characterize the clinical and genotypic features of Cystic fibrosis-associated pseudo-Bartter syndrome (CF-PBS) in Chinese children. Methods: We recruited and characterized the clinical manifestations of 11 Chinese children with CF-PBS. Sweat test, blood and urinary analysis, sputum culture, chest and sinus computed tomography, abdominal ultrasonography were obtained. Whole-exome sequencing, bioinformatics analysis, and sanger sequencing validation was performed to define the genotypes. Results: CF-PBS was accompanied by recurrent and/or persistent pneumonia (100%), pancreatitis (81.8%), vomit and/or diarrhea (63.6%), failure to thrive (FTT) (63.6%) and liver disease (54.5%) among our patients. The predominant organisms found in the airways was Pseudomonas aeruginosa (90.9%) and Staphylococcus aureus (81.8%). The mean concentration of blood gas and electrolytes were: PH 7.58, bicarbonate 40.8 mmol/L, sodium 126.7 mmol/L, chloride 80.0 mmol/L, and potassium 2.7 mmol/L, respectively. A high recurrence rate (54.5%) of PBS was observed despite continued electrolyte supplementation during follow up. 17 different mutations of CFTR gene were identified, and 9 of them turned out to be novel observations (c.262_266delTTATA, c.579+2insACAT, c.1210-3C>G, c.1733T>C, c.2236_2246delGAGGCGATACTinsAAAAATC, c.3635delT, c.3859delG, c.3964-7A>G and ΔE23 [c.3718-?_3873+?del]). The c.2909G>A/p.G970D was the most common mutation, with an allele frequency of 18.2%. c.1521_1523delCTT/p.F508del was the first time found with homozygous genotype in patients of Chinese origin. Conclusions: In China, CF-PBS always occurs early and repeatedly in infancy, accompanied by the high frequency of multi-system co-morbidities. Recurring in school-age patients is rare but does exist. The c.2909G>A/p.G970D is the most frequent mutation in Chinese patients with CF-PBS, showing a significant ethnic tendency of Chinese origin.

Macrolides and corticosteroid resistant have been reported in mycoplasma pneumoniae (MP) pneumonia (MPP). MP clearance is difficult even by sensitive antibiotics in severe MPP (SMPP). SMPP children might develop into airway remodeling even bronchiolitis/bronchitis obliterans. There is an urgent need to identify serum biomarkers indicating the progress of MPP and to discover new target drugs for the treatment of SMPP. In this study, we collected serum samples from general MPP (GMPP) and SMPP patients to perform proteomics profiling. Total 130 differentially expressed proteins with 61 up-regulated in GMPP and 69 up-regulated in SMPP were identified. Among these, FCGBP was one of the most altered protein with highest fold change. Biological enrichment analysis indicated an uncontrolled inflammation catastrophe in SMPP. In addition, complement, coagulation cascades, collagen-containing extracellular matrix and platelet degranulation pathway were enriched in both groups. KEGG analysis indicated an enriched platelet activation in SMPP. ELISA was then performed to verify the dynamic serum FCGBP expression level between other GMPP and SMPP patients. FCGBP level in SMPP was significantly higher than that in GMPP. FCGBP level in GMPP exhibited a decreased trend while SMPP showed the opposite trend during the disease course. Our study demonstrates the first proteomics characteristic of GMPP and SMPP and provides FCGBP as a new serum biomarker indicating the progress of SMPP. Further CMap analysis identified 25 drugs target for the treatment of SMPP. Among them, MTOR inhibitor, a macrolide compound and cell proliferation inhibitor, is the most promising drug targeting for the treatment of SMPP.