[Correlation of nutritional status with clinical characteristics and lung function in children with cystic fibrosis]. / å›Šæ€§çº¤ç»´åŒ–å„¿ç«¥è¥å »çŠ¶å†µä¸Žä¸´åºŠç‰¹å¾å’Œè‚ºåŠŸèƒ½çš„ç›¸å ³æ€§åˆ†æž.

OBJECTIVES: To investigate the nutritional status of children with cystic fibrosis (CF) and understand the correlation between malnutrition and clinical characteristics as well as lung function. METHODS: A retrospective analysis was performed on clinical data of CF children admitted from January 2016 to June 2023. Clinical characteristics of CF children with different nutritional statuses were compared, and the correlation between malnutrition and lung function was analyzed. RESULTS: A total of 52 CF children were included, comprising 25 boys (48%) and 27 girls (52%), aged between 7 months and 17 years. Respiratory symptoms were the predominant clinical manifestations (96%, 50/52). The prevalence of malnutrition was 65% (34/52), with moderate/severe malnutrition being the most common (65%, 22/34). The malnutrition group had a longer duration of illness, higher proportion of digestive system symptoms, and lower levels of serum albumin (P<0.05). Pulmonary function parameters, including forced expiratory volume in one second as a percentage of the predicted value, ratio of forced expiratory volume in one second to forced vital capacity, forced expiratory flow at 25% of forced vital capacity exhaled, forced expiratory flow at 50% of forced vital capacity exhaled, forced expiratory flow at 75% of forced vital capacity exhaled, and maximum mid-expiratory flow as a percentage of the predicted value, were lower in the malnutrition group compared to the normal nutrition group (P<0.05). Correlation analysis showed body mass index Z-score was positively correlated with the above six pulmonary function parameters (P<0.05). CONCLUSIONS: The prevalence of malnutrition is high in CF children and is associated with decreased lung function. CF children with higher body mass index have better lung function. Therefore, screening and evaluation of nutritional status as well as appropriate nutritional intervention should be emphasized in CF children.

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The objective of this study is to characterise the genotypic features of CF in Chinese children. METHODS: We recruited and characterised the genetic manifestations of 103 Chinese children with CF in Beijing Children's Hospital from 2010 to 2022. Whole-exome sequencing were performed to define the genotypes. Meanwhile, other 99 genetically confirmed patients with Chinese origin described in 45 references were also summarised. RESULTS: 158 different variants including 23 novel observations were identified after sequencing. The majority of CFTR variants (82.3%) in Chinese have been observed only once or twice. 43.7% of the variants were only identified in patients of Chinese origin. The c.2909G>A(p.Gly970Asp), c.1766+5G>T and c.1657C>T(p.Arg553X) were the most frequent variants among Chinese patients, with allele frequency of 12.1%, 5.4% and 3.6%, respectively. The first two variants both showed significant Chinese ethnic tendency, while the latter one most likely came from Europeans for historical reasons. They also demonstrated significant differences in geographical distribution. c.1521_1523delCTT(p.F508del) was rarely observed in patients of pure Chinese origin, with an allele frequency of 1.8%. Two de novo variants (c.960dupA[p.Ser321IlefsX43] and c.2491-2A>G) and two deep-intronic variants (c.3718-2477C>T and c.3874-4522A>G) were identified, which were also quite rare among Chinese. CONCLUSIONS: The genetic spectrum of CF in Chinese is unique and quite different from that observed in Caucasians. The geographical distributions of the most frequent variants were reported for the first time.

Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.

BACKGROUND: The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of published variants on DNAAF2 to date. METHODS: A two-child family was recruited for the study. Clinical manifestations, laboratory tests, bronchoscopic and otoscopic images, and radiographic data were collected. Whole blood was collected from siblings and their parents for whole-exome sequencing (WES) and Sanger sequencing to screen variants. RESULTS: The two siblings exhibited typical clinical manifestations of PCD. Two compound heterozygous variants in DNAAF2 were detected in both by WES. Nonsense variant c.156 C>A and frameshift variant c.177_178insA, which was a novel variant. CONCLUSION: The study identified a novel variant of DNAAF2 in Chinese children with a typical phenotype of PCD, which may enrich our knowledge of the clinical, diagnostic and genetic information of DNAAF2-induced PCD in children.

Childhood-onset Takayasu arteritis presenting as pyoderma gangrenosum-like vasculitic ulceration: Three case reports and a literature review.

We report a small case series of childhood-onset Takayasu arteritis (c-TA) presenting as pyoderma gangrenosum (PG)-like vasculitic ulceration. The cutaneous vasculitic ulcers in systemic vasculitis are rare and severe, sometimes leading to delayed diagnosis and treatment. We summarised the clinical features and highlighted the warning signs of c-TA associated with PG-like vasculitic ulceration.

Prognosis and treatment of 46 Chinese pediatric cystic fibrosis patients.

BACKGROUND: Since public awareness of cystic fibrosis (CF) has increased, more children have been diagnosed with CF in China. This study aimed to investigate medical and other challenges faced by pediatric CF patients in China. METHOD: Treatments and treatment outcomes were retrospectively analyzed for 46 pediatric CF patients diagnosed from August 2009 to June 2019. Pre- and post-treatment results were compared using independent samples t-test. RESULTS: Of 46 pediatric CF study patients, four died and five were lost to follow-up. Thirty-seven patients were monitored for 0.03 to 9.21 years; patients exhibited fewer attacks of respiratory tract infections after diagnosis (4.49 ± 2.13 episodes/year before diagnosis vs 1.97 ± 1.87 times/year after 1-year treatment, p < 0.05), significantly reduced sputum production and experienced 1.62 ± 1.71 exacerbations/year. Patient mean body mass index was 16.87 ± 3.53 and pancreatic malfunction persisted in 15 patients. For 17 children, no significant differences in lung function were found at follow-up as compared to lung function at diagnosis (FEV1: 82.45% ± 16.56% vs 75.26% ± 22.34%, FVC: 87.18% ± 13.64% vs 86.99% ± 19.95%, FEF75%: 46.51% ± 28.78% vs 36.63% ± 24.30%, P = 0.27, 0.97, 0.20, respectively). Pseudomonas aeruginosa (17/27) and bronchiectasis (22/22) were found during follow-up evaluation. Twenty-four patients (64.8%) maintained good adherence to therapies. Overall, azithromycin and tobramycin treatments were administered for 0.5-62 months and 0.5-48 months, respectively, and triggered no obvious adverse reactions. CONCLUSION: No obvious declines in clinical presentation or lung function were found in Chinese pediatric CF patients after receiving standard therapeutic and active treatments, although malnutrition and low compliance were persistent challenges.

Mediastinal teratoma presenting with hemoptysis and pleuritis misdiagnosed as tuberculosis (empyema).

BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSIONS: 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.

A Child With Large Pulmonary and Liver Cysts.

A previously healthy 7-year-old had 1 week of fevers, productive cough, and lethargy, which did not improve after 3 days of oral cefuroxime. He lived in a rural area and had close contact with dogs, cattle, and sheep. White blood cell count was 8000/µL, with 25.8% eosinophils; computed tomography showed a ruptured right upper lobe pulmonary cyst and 3 liver cysts. What is the diagnosis and what would you do next?

Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.

OBJECTIVES: To characterize the clinical phenotypes and genotypic spectrum of cystic fibrosis (CF) in Chinese children. STUDY DESIGN: We recruited and characterized the phenotypes of 21 Chinese children with CF. All 27 exons and their flanking sequences of the CF transmembrane conductance regulator gene were amplified and sequenced to define the genotypes. RESULTS: Bronchiectasis (95.2%) and sinusitis (76.2%) were the most common clinical presentations among our patients. By contrast, pancreatic insufficiency was rare (14.3%). The predominant organism found in the airways was Pseudomonas aeruginosa (66.7%). There were obvious reductions of forced expiratory volume in the first second (mean ± SD: 71.8% ± 17.2% predicted) and forced expiratory flows at 75% of exhaled vital capacity (33.7% ± 20.4% predicted) in children with CF. Overall, we identified 22 different mutations, including 12 missense, 5 nonsense, 2 frameshift, 1 in-frame insertion, 1 splice site, and 1 3'untranslated region mutation. Of these, 7 were novel observations (W216X[780G→A], 1092insA, Q359X, D567Y, 2623-126T→C, 3439delA and 4575+110C→G), and the most common types were L88X and I556V. One de novo mutation (1092insA) was also revealed. Except for N1303K and R334W, none of them were present in the common Caucasian CF transmembrane conductance regulator mutation-screening panels. CONCLUSIONS: There was a 5.7-year delay between the first clinical presentation and the eventual CF diagnosis, suggesting that CF may be underdiagnosed in China. The clinical phenotypes and genotypic spectrum are different from that observed in Caucasians.

Late-Onset Diffuse Lung Disease in an 8-Year-Old Girl.

CASE PRESENTATION: An 8-year-old girl presented with a 34-day history of cough, fatigue, and impaired exercise tolerance. She experienced cyanosis on exertion but denied fever, hemoptysis, hematuria, or seizures. Her perinatal and family histories were unremarkable, and she had no history of exposure to TB. A chest radiogram from a local clinic showed diffuse pulmonary lesions. Tuberculin skin test, interferon-γ release assay, and HIV antibody test results were all negative. Immunoglobulin levels and lymphocyte subsets were normal. The patient did not respond to IV azithromycin for 1 week for community-acquired pneumonia. She was transferred to our hospital because of progressive respiratory distress and hypoxemia.

Interstitial Lung Disease in a 14-Year-Old Boy.

CASE PRESENTATION: A 14-year-old Chinese boy presented with a 7-year history of exertional dyspnea and reduced exercise tolerance. His perinatal and family histories were unremarkable. He was short and underweight for his age since childhood but had normal intellectual development. At 3 years of age, he was admitted to the ICU for severe pneumonia and anemia, and he received blood transfusion. He developed exertional dyspnea and reduced exercise tolerance at 7 years of age and became reluctant to run or jump, with poor appetite, abdominal distension, and refusal of protein-rich foods. At 13 years of age, he experienced a coma during school military training, and he was hospitalized for hyperammonemia (blood ammonia levels between 98 and 148 µmol/L; normal range, 18-72 µmol/L). Brain MRI showed no abnormalities. He improved after symptomatic treatment and was discharged, without taking any oral medication afterwards. However, his dyspnea and exercise tolerance worsened gradually. This patient was referred to Children's Hospital affiliated with Zhengzhou University for further investigation and management.

Clinical features and recurrence predictors of histiocytic necrotizing lymphadenitis in Chinese children.

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.

Pulmonary Thrombotic Complication of Mycoplasma pneumoniae Pneumonia in Chinese Children: Clinical Feature and Risk Factor Analysis.

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.

A rare family outbreak of Mycobacterium abscessus infection in immunocompetent fraternal triplets.

Background: Mycobacterium abscessus (M. abscessus) infection is rare in children who were previously healthy, particularly in infants. We present the first report of a family outbreak of M. abscessus infection among immunocompetent infant triplets. Methods: We reviewed triplets' demographic data, laboratory tests and imaging examinations to describe their clinical features. We performed whole-exome sequencing to rule out primary immunodeficiency disorders. We used DNA sequencing for M. abscessus subspecies identification. Results: The fraternal triplets (triples A, B and C) presented with a 10-day history of cough. Triple A also experienced a brief episode of fever, and triple B had tachypnea. Chest CT scans showed pulmonary masses and nodules in triples A and C, and cavities in triple B. Cultures of sputum and bronchoalveolar lavage fluid from all triplets yielded M. abscessus. Further subspecies identification showed that isolates from triples A and C were M. abscessus subsp. massiliense, and isolates from triple B were M. abscessus subsp. abscessus (MAA). After eight months of combination therapy, the pulmonary lesions of the triplets improved significantly. Conclusion: Our study confirms that M. abscessus pulmonary disease can occur in immunocompetent infants. We hypothesize that the simultaneous infection of the triplets may be associated with their prematurity and extensive environmental exposure. This study highlights the importance to include M. abscessus infection in the differential diagnosis of pulmonary masses and/or cavities, regardless of the age of onset or the presence of underlying pathology or susceptible genes.

Epidemiological and clinical characteristics of hospitalized unintentional injuries among children in central China from 2017-2023.

Objectives: To examine the epidemiological and clinical characteristics of hospitalized unintentional injuries among children in Central China and theoretically propose preventive and control measures. Methods: We conducted a retrospective study of children aged 0-18 years with unintentional injuries who were admitted to a tertiary hospital in Central China from January 2017 to December 2023. We examined various aspects of the unintentional injuries, including age, gender, urban-rural distribution, external causes, trends, location of injury, cost, and length of stay. Results: A total of 20,166 children with hospitalized unintentional injuries were enrolled. The median age with IQR was 2.8 (1.6, 5.1) years, with majority of the patients (57.0%) were aged 1-3 years, while the fewest were aged 11-18 years. The male-to-female ratio was 1.8:1, and the urban-to-rural ratio was 1.1:1. The most common external causes were foreign bodies (41.7%), exposure to inanimate mechanical forces (25.1%), and falls (22.1%). The most frequently injured body parts were head (72.5%). The total number of unintentional injuries exhibited an increasing trend from 2017-2022, and a decreasing trend from 2022-2023. The urban-rural distribution reversed after 2020. The overall hospitalization cost was 20,810,870.4 USD, with an median cost of 758.7 (556.4, 1,186.2) USD per person. Conclusion: Unintentional injuries imposed a heavy burden on society and families. However, the number of cases and the urban-rural distribution showed significant trend changes from 2017-2023. The external causes varied by age group, gender, and region, while prevention and control measures should be developed accordingly.

Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single-center retrospective analysis.

BACKGROUND: Despite the growing awareness of cystic fibrosis (CF) in China, few cases have been reported in Henan, which is the most populous province in the country. This study aimed to describe the clinical phenotype and genotype of children with CF in Henan. METHODS: We retrospectively recruited 18 Chinese children with CF who presented to Children's Hospital affiliated to Zhengzhou University from January 2019 to June 2023. The demographic data, imaging examinations, and laboratory tests of the patients were reviewed to clarify the clinical phenotype. Whole exome sequencing was conducted to identify the genotype. RESULTS: Respiratory diseases were the main clinical manifestation, including recurrent/persistent pneumonia (88.9%), sinusitis (77.8%), bronchiectasis (77.8%). CF-related liver disease and pancreatic insufficiency were less common. Infant cases had high frequency of pseudo-Bartter Syndrome (80.0%). Chest computed tomography showed bronchiectasis in older children and air trapping in infant cases. The most common pathogens in the airway were Pseudomonas aeruginosa (72.2%) and Staphylococcus aureus (66.7%). Twenty-five different cystic fibrosis transmembrane conductance regulator (CFTR) gene variants were detected, including five novel observations (c.1064C>G[p. Pro355Arg], c.1209+1G>C, c.1925C>G[p. Ser642X], c.2810T>G[p. Leu937Arg], and c.3792delA[p. Gly1265GlufsX13]). The most common variant was c.2909G>A(p. Gly970Asp), with a detected rate of 21.9%. CONCLUSION: Children with CF in Henan had varied clinical phenotypes by age, with respiratory disease being predominant. The most frequent CFTR gene variant was c.2909G>A(p. Gly970Asp). This study is the first and most comprehensive one on the clinical phenotype and genotype of children with CF in Henan, China. We also reported the first CF case of Mycobacterium abscessus infection in China.

Case report of a pediatric Chinese cystic fibrosis patient with the c.1521_1523delCTT/c.3874-4522A>G genotype.

This report describes a case of an 11-year-old Chinese boy with cystic fibrosis (CF) bearing the c.1521_1523delCTT/c.3874-4522A>G genotype, an extremely rare CF genotype in the Chinese population. Notably, the deep intron mutation c.3874-4522A>G, 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.3874-4522A>G 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.

Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder.

This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder (NMOSD), which is a very rare phenotype. Clinical manifestations expanded the phenotype of COPA syndrome. Notably, there is no definitive treatment for COPA syndrome. In this report, the patient has achieved short-term clinical improvement with sirolimus.

Pilot study of archimedes virtual bronchoscopic navigation system-guided biopsy to diagnose lung nodules in children.

Background: Peripheral pulmonary lesions are uncommon in children. Bronchoscopy is a minimal invasive method to obtain a diagnostic lung biopsy. However, due to the lack of effective guidance methods, the diagnostic efficacy of transbronchial lung biopsy for peripheral solitary pulmonary diseases is still limited. Research question: Is the Archimedes virtual bronchoscopic navigation system safe and effective for the diagnosis of peripheral pulmonary lesions in children? Study design and methods: This pilot study retrospectively analyzed the clinical features, radiological characteristics, operation processes, intra-and postoperative complications, and pathological results of five children who underwent Archimedes-guided biopsy of peripheral pulmonary lesions in Beijing Children's Hospital from May 2021 to May 2022. Results: The cohort comprised five children (all males) with age of 7.1-15.8 years. A guide sheath was inserted through the bronchoscope under the guidance of Archimedes combined with radial endobronchial ultrasound to complete the biopsy under general anesthesia. The fused fluoroscopy technique was used to reconfirm the location of the forceps prior to biopsy in all children. The forceps reached the lesion under the guidance of the navigation and the samples were collected successfully in all children. Pathological examination of the biopsy specimens showed Epstein-Barr virus infection-related lymphoproliferative disease in one child, pulmonary metastasis of rhabdomyosarcoma in one child, and pulmonary vasculitis in one child; high-throughput sequencing of the biopsy tissue sample identified Mycobacterium tuberculosis (sequence no. 80) in one child and Aspergillus (sequence no. 40) in another child. All five children tolerated the biopsy procedure without developing postoperative complications, such as pneumothorax and hemoptysis. Interpretation: Archimedes-guided bronchoscopic lung biopsy is a feasible and efficient way to diagnose peripheral pulmonary lesions in children with manageable complications.

A review of cystic fibrosis: Basic and clinical aspects.

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.

Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings.

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. In all, 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.