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This report describes a case of an 11-year-old Chinese boy with cystic fibrosis (CF) bearing the c.1521_1523delCTT/c.3874-4522AG genotype, an extremely rare CF genotype in the Chinese population. Notably, the deep intron mutation c.3874-4522AG, which has mainly been reported in patients with phenotypically mild CF, is identified here for the first time in a Chinese patient with severe CF. In the case discussed here, the c.3874-4522AG mutation was associated with severe pulmonary disease with early symptoms onset, progressive bronchiectasis, recurrent airway infection with both Pseudomonas aeruginosa and methicillin-resistant Staphylococcus aureus, rapid decline of lung function and poor weight gain. Despite intensive hospital-based pulmonary care and optimized therapy, the child died of cardiopulmonary failure 3 months after discharge.

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 12 Chinese children with CF-PBS. Sweat test, blood and urinary analysis, sputum culture, chest and sinus computed tomography, and abdominal ultrasonography were obtained. Whole-exome sequencing, bioinformatics analysis, and sanger sequencing validation were performed to define the genotypes. Results CF-PBS was accompanied by recurrent and/or persistent pneumonia (91.7%), pancreatitis (83.3%), vomiting and/or diarrhea (66.7%), failure to thrive and liver disease (58.3% respectively) among our patients. The predominant organisms found in the airways were Pseudomonas aeruginosa (83.3%) and Staphylococcus aureus (75.0%). The mean concentrations of blood gas and electrolytes were: pH 7.58, bicarbonate 40.8 mmol/L, sodium 125.9 mmol/L, chloride 77.5 mmol/L, and potassium 2.6 mmol/L. A high recurrence rate (50.0%) of CF-PBS was observed despite continued electrolyte supplementation during follow up. 19 different variants of CFTR gene were identified, and 10 of these were found to be novel observations (c.262_266delTTATA[p.L88FfsX21], c.579+2insACAT, c.1210-3C>G, c.1733T>C[p.L578P], c.2236_2246delGAGGCGATACTinsAAAAATC[p.E746KfsX8], c.3068T>G [p.I1023R], c.3635delT[p.V1212AfsX16], c.3859delG[p.G1287EfsX2], c.3964-7A>G and ΔE23 [c.3718-?_3873+?del]). The c.2909G>A[p.G970D] was the most common variant, with an allele frequency of 16.6%. A homozygous genotype of c.1521_1523delCTT[p.F508del] was discovered for the first time in patients of Chinese origin. Conclusions In China, CF-PBS usually presents early and recurs frequently in infancy, accompanied by multiple comorbidities. Recurrence of CF-PBS in school-going patients does occur but is rare. The p.G970D is the most frequent variant, with a significant ethnic tendency of Chinese origin. This article is protected by copyright. All rights reserved.

This report entails a case of refractory pneumonia with a wild variety of extra-pulmonary manifestations due to macrolide-resistant Mycoplasma pneumoniae infection in a 7-year-old boy. The diagnosis was based on isolating M. pneumoniae through cultivation from the patient's bronchial aspirations at admission and the following susceptibility testing. Initial treatments consisting of a combination of azithromycin and standard-dosed methylprednisone (2 mg/kg) were completely nonresponsive and the patient's condition deteriorated rapidly. However, methylprednisone pulse therapy (20 mg/kg for 3 days, tapering within 1 month) and intravenous immunoglobulin (1 g/kg/day, two doses), in addition to moxifloxacin (10 mg/kg for 7 days) were remarkably effective and led to a favorable outcome without any observed side effects during inpatient hospitalization and outpatient follow-up. Pediatr Pulmonol. 2013; 48:519–522. © 2012 Wiley Periodicals, Inc.

This report entails a case of refractory pneumonia with a wild variety of extra-pulmonary manifestations due to macrolide-resistant Mycoplasma pneumoniae infection in a 7-year-old boy. The diagnosis was based on isolating M. pneumoniae through cultivation from the patient's bronchial aspirations at admission and the following susceptibility testing. Initial treatments consisting of a combination of azithromycin and standard-dosed methylprednisone (2 mg/kg) were completely nonresponsive and the patient's condition deteriorated rapidly. However, methylprednisone pulse therapy (20 mg/kg for 3 days, tapering within 1 month) and intravenous immunoglobulin (1 g/kg/day, two doses), in addition to moxifloxacin (10 mg/kg for 7 days) were remarkably effective and led to a favorable outcome without any observed side effects during inpatient hospitalization and outpatient follow-up.