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 recruited 14 Chinese children with CF who presented to Children’s Hospital affiliated to Zhengzhou University from January 2019 to January 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 (85.7%), sinusitis (71.4%), bronchiectasis (71.4%). CF-related liver disease (CFLD) and pancreatic insufficiency (PI) were less common (21.4% each). 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 and Staphylococcus aureus (71.4% respectively). Twenty-four different CFTR gene variants were detected, including four novel observations (c.869+3A>T, c.1064C>G[p.Pro355Arg], c.1209+1G>C and c.1925C>G [p.Ser642X]). The most common variant was c.2909G>A (p.Gly970Asp), with a detected rate of 16.7%. 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 M. abscessus infection in China.

Objective: To describe the clinical characteristics of Covid-19 in infants during the Omicron variant outbreak in Henan, 2022. Methods: We retrospectively analyzed the clinical data, epidemiological exposure, and maternal vaccination status of infants infected with Omicron variant admitted to Zhengzhou First People’s Hospital from October 20, 2022 to December 15, 2022. Results: We admitted 21 infants (12 males and 9 females). All had epidemiological exposure in household or nursing institution settings. The most common respiratory manifestations were fever (19 cases), cough (11 cases), and nasal congestion (8 cases). The most frequent gastrointestinal manifestations were anorexia and diarrhea (8 cases each) and vomiting (4 cases). Of the 12 infants who underwent complete blood count, 8 had normal white blood cell counts and 3 had leukopenia. C-reactive protein was normal in 11 cases and mildly elevated in 1 case. Chest CT showed increased lung markings in 7 cases, focal consolidation in 6 cases each, and ground-glass opacities in 5 cases. The mean time to negative conversion was 6.7 days. All 21 infants recovered and were discharged after symptomatic treatment, with a mean length of stay of 11.5 days. Two weeks after discharge, none had recurrence or retested positive for SARS-CoV-2 RNA. We found no correlations between maternal vaccination status and clinical symptoms or SARS-CoV-2 RNA negative conversion time (P>0.05). Conclusion: All Covid-19 infants had epidemiological exposure in household or nursing institution settings. They mostly had mild infection with respiratory and/or gastrointestinal symptoms and a good short-term prognosis.

Objective: To investigate the clinical manifestations, diagnosis and treatment processes of two siblings with PCD caused by the same compound heterozygous mutations in DNAAF2. Methods: With clinical diagnosis of PCD, the two siblings were recruited in the study. We collected their clinical histories, laboratory tests, bronchoscopy, otoscope images, and radiographic data. Whole blood of the siblings and their parents were separately harvested for whole-exome sequencing and Sanger sequencing. Results: The 7-year-old girl presented with recurrent respiratory tract infection, sinusitis and otitis media. Auxiliary examinations showed pneumonia, atelectasis, bronchiectasis, low nitric oxide concentration (nNO), and conducting hearing loss. The younger brother, 10-month boy, exhibited pneumonia, sinusitis, otitis media, intestine malrotation and with lower nNO, atelectasis in chest CT, obstructive ventilator dysfunction by pulmonary function and conductive hearing loss. Two compound heterozygous mutations in DNAAF2 were detected in both of the siblings, nonsense mutation c.156C＞A and frameshift mutation c.177_178insA, and the c.177_178insA (p.E60Rfs*3) mutation is a novel mutation. Conclusion: The study enriches our knowledge of clinical manifestations and genetic information of PCD caused by DNAAF2.