BACKGROUND:Mycoplasma pneumoniae pneumonia (MPP) is a leading cause of community-acquired pneumonia in children. The COVID-19 pandemic substantially disrupted the transmission dynamics of M. pneumoniae, yet large-scale, nationwide data characterizing the clinical and epidemiological evolution of pediatric MPP in China across the pandemic period remain scarce. METHODS:We analyzed 325,781 MPP hospitalizations from 31 tertiary children's hospitals across mainland China between 2016 and 2023, using the FUTURE Database. Temporal trends and demographic differences in disease severity, co-infections, complications, length of stay (LOS), and hospitalization costs were systematically evaluated. RESULTS:MPP admissions peaked in 2023, accounting for 8.76% of all pediatric hospitalizations. The male-to-female ratio was 1.15:1. children aged 3-6 years accounted for the largest proportion (32.42%), though children aged 6-10 years became predominant in 2023. Severe MPP increased significantly over time (P for trend <0.0001), rising from 3.78% in 2017 to above 13% after 2020. Viral and bacterial co-infection rates rose significantly to 24.13% and 10.09% in 2023, with infants bearing the highest burden. Respiratory complications increased over time to over 10% after 2021, while extrapulmonary complications declined. The median LOS was 7 days (IQR 5-9), and the median cost was 5891.61CNY (IQR 4427.86-8425.95), both decreased significantly from 2016 to 2023. Severe MPP and coinfections were associated with longer LOS and higher costs. CONCLUSIONS:This nationwide multicenter study reveals a post-pandemic surge in pediatric MPP in China, with rising severity, a shift towards school-aged children, and increasing co-infection rates. Despite improved healthcare efficiency, growing clinical complexity demands enhanced surveillance, risk stratification, and public health preparedness.

Pediatric postinfectious bronchiolitis obliterans (PIBO) is a long-term sequela of severe lower respiratory tract infection. However, the underlying pathogenic mechanisms within the airways remain poorly understood. Bronchoalveolar lavage fluid (BALF) from six children with PIBO and three control children was subjected to transcriptomic, proteomics and untargeted metabolomics analyses. Integrated analysis identified key differentially expressed candidates, among which protein candidates were subsequently validated by ELISAs. Transcriptomic analysis revealed altered pathways in the BALF of children with PIBO, including pathways related to epithelial differentiation, inflammatory responses, and metabolic processes involving amino acids, purines, lipids, and vitamins. Proteomic analysis further revealed epithelial injury, inflammatory activation, tissue remodeling, and metabolic dysregulation in PIBO patients. Protein–protein interaction (PPI) network analysis identified CXCL8 (interleukin-8, IL-8) as the central hub. Integrative transcriptomic-proteomic correlation analysis further revealed that CXCL8 transcript levels were correlated with the greatest number of differentially expressed proteins (DEPs). Subsequent ELISA validation confirmed elevated CXCL8 protein levels in children with PIBO, which were positively correlated with the predicted FEV1

Background: Bronchiolitis obliterans (BO) is a rare but devastating chronic obstructive lung disease. However, comprehensive epidemiological data on paediatric BO in China remain scarce. We aimed to characterise the clinical epidemiological features and burden of hospitalised children with BO nationwide. Methods: We conducted a cross-sectional study using data from the FuTang Update Medical Records (FUTURE) database, a national, multicentre paediatric inpatient registry encompassing 36 tertiary children’s hospitals across China. Hospitalised patients younger than 18 years with a clinician-confirmed diagnosis of BO were included. Demographic characteristics, comorbidities, and hospitalisation costs were analysed using descriptive statistics and stratified analyses. Findings: Between January 1, 2016, and December 2023, 7553 patients were identified (median age 4·0 years [IQR 2·0–7·0]; 4828 [63·9%] male and 2725 [36·1%] female patients). Post-infectious BO (PIBO) was the most common cause (4924 [65·2%]), followed by post-transplant BO (433 [5·7%]). Children aged 1–3 years constituted the largest age group. After a marked decline during 2020–2022, a diagnostic peak was observed in 2023, the first year following the COVID-19 pandemic. Cases were predominantly concentrated in North and East China. Among PIBO cases, Mycoplasma pneumoniae was the most frequent pathogen, followed by viruses (predominantly adenovirus) and bacteria, with pronounced age-specific, temporal, and regional heterogeneity. Co-detection of multiple pathogens was common. Asthma was the most common comorbidity (654 [8·7%]), followed by rhinitis or sinusitis (601 [8·0%]). The median length of hospital stay was 6 days (IQR 4–10), with substantial regional variation in medical costs. Interpretation: This study provides the first clinical epidemiological overview of hospitalised paediatric BO in China, revealing temporal and regional heterogeneity in disease spectrum and burden. The findings underscore the need for enhanced surveillance and standardised care for children with BO.

Leukocyte adhesion deficiency I (LAD-I) is an autosomal recessive immunodeficiency caused by mutations in the ITGB2 gene, characterized by recurrent severe infections, impaired pus formation, and delayed wound healing. In this study, we describe a late-onset presentation of LAD-I in a 22-year-old male who initially exhibited marked leukocytosis and neonatal omphalitis, followed by recurrent upper respiratory tract infections from 9 months of age. At age 13, the patient developed abdominal and left iliac fossa abscesses, which progressed to a vesicocutaneous fistula after a prolonged febrile episode. Extended catheterization and antibiotic treatment led to the formation of characteristic tin foil-like scarring. Recurrent purulent skin and soft tissue infections led to widespread scarring and pigmentary changes. Next-generation sequencing (NGS) identified a novel homozygous splice-site mutation in ITGB2 (NM_000211.5, c.1225-1G > A, IVS10-1G > A). In silico analysis predicted disruption of the acceptor site, while a minigene assay demonstrated two aberrant splicing events, namely a 12-bp deletion and complete skipping of exon 11 (188 bp). Flow cytometry analysis at age 13 showed CD18 expression reduced to less than 1% across granulocytes, monocytes, and lymphocytes, with concomitant decreases in β2-integrin α subunits (CD11a, CD11b, and CD11c). At 15 years of age, the patient underwent hematopoietic stem cell transplantation (HSCT) from a fully HLA-matched (10/10) heterozygous sister donor following a modified myeloablative conditioning regimen. Although initial chimerism fluctuated, full donor chimerism was ultimately achieved, restoring CD18 expression and normalizing ɑ-integrin levels. This study highlights the therapeutic efficacy of HSCT in correcting the molecular defects associated with LAD-I.

Thrombocytopenia is a frequently overlooked yet clinically relevant manifestation of Epstein-Barr virus (EBV) infection, particularly in children. Although it is commonly associated with EBV-related conditions, thrombocytopenia is often misdiagnosed as primary immune thrombocytopenia or dismissed as an incidental finding. This review summarizes current evidence linking EBV infection and thrombocytopenia, highlighting its potential as an early clinical clue. We emphasize the importance of timely EBV testing in pediatric patients with unexplained thrombocytopenia and advocate for greater clinical awareness and multidisciplinary research. Recognizing thrombocytopenia as more than a minor laboratory abnormality may improve diagnostic accuracy, guide appropriate treatment, and inform future research directions.

Haemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by immune dysregulation, cytokine storm and multi-organ dysfunction. Due to the scarcity of large multicentre epidemiological studies on paediatric HLH in China, we performed a national analysis to characterize disease burden and features, providing evidence for high-risk identification and resource allocation. We analysed national epidemiological data on paediatric HLH hospitalizations in China using the FUTURE database (2016-2022; 33 children's hospitals). HLH accounted for 0.7803‰ of paediatric hospitalizations, predominantly affecting children aged 1-3 years (34.33%). From 2016 to 2022, the proportion of paediatric HLH hospitalizations showed a declining trend, with the most notable decrease observed during 2020-2022. Respiratory diseases (41.07%) were the most common concomitant condition. Infants aged 29 days to <1 year (odds ratio [OR] = 3.11, p < 0.001) and patients from Northwest (OR = 2.68, p = 0.002) and Southwest regions (OR = 1.87, p = 0.043) had higher mortality risks. Infection-associated HLH (86.09%) was the most common subtype, with Epstein-Barr virus (EBV) as the leading trigger. Central nervous system (CNS)-HLH showed higher risks of multi-organ damage. In Chinese paediatric HLH inpatients, the number of concomitant conditions positively correlated with hospital stay and costs. Different HLH subtypes exhibited distinct clinical features, highlighting the importance of tailored management approaches based on disease classification and risk stratification.

ABSTRACT Importance Although macrolides combined with glucocorticoid therapy have demonstrated efficacy in preventing long‐term pulmonary lesions of severe Mycoplasma pneumoniae pneumonia (MPP), evidence regarding glucocorticoid dose is lacking. Objective To evaluate the effects of low‐ and high‐dose methylprednisolone on the risk of long‐term pulmonary lesions for children with severe MPP when combined with azithromycin. Methods This randomized, parallel‐controlled, multicenter clinical trial was conducted in mainland China and enrolled pediatric patients hospitalized with severe MPP. A total of 424 enrolled patients were randomized (allocation ratio of 1:1) to azithromycin combined with either a low‐dose [2 mg/(kg·d)] or a high‐dose [10 mg/(kg·d)] methylprednisolone treatment for 3 d followed by tapering over 12 d. The primary outcome was the incidence of composite adverse outcomes, including atelectasis, bronchiectasis, or bronchiolitis obliterans 6 months after treatment. Results A total of 118 (27.8%) developed adverse pulmonary lesions at 6 months after treatment; 66 of 211 (31.3%) in the high‐dose methylprednisolone group and 52 of 213 (24.4%) in the low‐dose group, respectively. The risk ratio of long‐term pulmonary lesions in a high‐dose group to those in a low‐dose group was 1.28 (95% confidence interval [95% CI]: 0.94–1.75). In addition, the risk of hypertension in the high‐dose group (8.1%, 17 of 211) was higher than that in the low‐dose group (1.4%, three of 213), with a risk ratio of 5.72 (95% CI: 1.70–19.23) Interpretation Azithromycin combined with low‐dose methylprednisolone demonstrates non‐inferior efficacy in reducing pulmonary lesions at 6‐month follow‐up compared to combined with high‐dose methylprednisolone while exhibiting a more favorable safety profile.

Primary ciliary dyskinesia (PCD) is a group of genetically heterogeneous disorders characterized by clinical manifestations resulting from abnormal ciliary motility. Mutations in critical genes, such as Cyclin O (CCNO), have been associated with severe respiratory disease, though limited data are currently available. Here we show that CCNO deficient ciliated cells can only form a reduced number of fully functional centrioles that can mature into ciliated basal bodies, and their transport and anchoring to the top of the plasma membrane are abnormal. Furthermore, we observed that CCNO localizes not only in the cytoplasm but also in the nucleus during the early stages of ciliogenesis, and this dual localization persists into adulthood. Transcriptome analysis revealed downregulation of genes involved in cilia assembly and movement, along with altered transcription factors associated with ciliation upon CCNO depletion. These findings indicate that CCNO may serve as a key regulator in the transcriptional regulation of multiciliogenesis.

Abstract Background Epstein-Barr virus-associated lymphoproliferative disorders (EBV-LPDs) are a group of disorders involving lymphoid tissues or lymphocytes. The epidemiology and economic burden of hospitalized children with EBV-LPDs in China have not been well studied. This study aimed to reveal the epidemic characteristics and disease burden of EBV-LPDs among the Chinese hospitalized children, providing strategies for the prevention and management. Methods This study was based on the FUTang Updating medical REcords (FUTURE) database of China and collected the medical records from 27 tertiary children’s hospitals between January 2016 and December 2021 in China, counting five types of EBV-LPDs, namely EBV-positive T-cell lymphoproliferative disease, NK/T cell lymphoma, extranodal NK/T-cell lymphoma (nasal type), systemic EBV-positive T-cell lymphoproliferative disease of childhood and posttransplant lymphoproliferative disorders. We conducted a retrospective syhthesis and analysis of the epidemiological characteristics, expenses, length of stay (LOS), as well as complications among hospitalized children diagnosed with five types of EBV-LPDs and compared parameters using appropriate statistical tests. Results The study described 153 children aged 0–18 years hospitalized with EBV-LPDs from 2016 to 2021 in the FUTURE database. The male-to-female ratio was 1.10:1, and more than half of the age distribution was in the 6–12 y group. Among EBV-LPDs cases, EBV+ T-LPD accounted for the largest proportion (65.36%). Complications were presented in 93 children with EBV-LPDs, mainly hemophagocytic lymphohistiocytosis (HLH). The median LOS of NKTL was 26.5 days [interquartile range (IQR) = 3–42], which was the longest among EBV-LPDs. The median hospitalization cost of PTLD was 10 785.74 United States dollars (IQR = 7 329.38–16 531.18), which was the heaviest among EBV-LPDs. Conclusions Compared with the total number of hospitalized children in China during the same period and in the same age group, the proportion of EBV-LPD is very low. EBV-LPD can develop in all age groups, but it is more common in school-age children. Among 5 EBV-LPDs, the disease with the highest proportion is EBV+ T-LPD. The overall disease burden of EBV-LPD was heavy, especially the economic burden. HLH was one of the most common complications, which could directly affect the burden of patients because of prolonged hospitalization. These data are taken from a very large database, illustrating the epidemiological and economic burden of EBV-LPDs hospitalized children in China, which enriched the existing epidemiological and disease burden content of EBV-LPDs.

Background: Primary ciliary dyskinesia (PCD) is a rare genomic disorder. The phenotype heterogeneity depends on the genotype. Critical genes mutant like CCNO had severe respiratory disease, while limited data are available until now. Case presentation: We presented a patient with neonatal respiratory distress at birth, and had cough with wheeze for 8 years as flows. According to clinical and imaging findings, screenings of PCD related genes showed compound heterozygous mutation of CCNO. We also overviewed the literature of CCNO-related PCD and compared to our patient. A total of 43 patients from 30 families were enrolled. Approximately 57.1% (24/42) of individuals were born in the consanguineous marriage family. Most patients developed onset symptoms at neonate, accounted for 85.3%. Recurrent respiratory tract infection (83.3%), neonatal respiratory distress (69.0%), and sinusitis/rhinorrhea (50.0%) were major manifestations, the subsequents were chronic cough 15/42(35.7%), and recurrent otitis media (28.6%); hear losing, infertility, congenital heart defects and hydrocephalus were rare, but heterotaxy was never seen. Bronchiectasis was the most common radiologic findings, while the patient in our study presented with special findings of diffuses small nodular in both lungs like diffuse pan-bronchiolitis (DPB). Thirteen different CCNO variants were identified with most located in exon 1 (79.1%, 34/43). Our participant was identified previously reported c.263_267dupAGCCC and c.258_262dupGGCCC mutation from her mother and father respectively. Conclusion: CCNO variants are rare in PCD patients, but it causes more severe phenotypes than the other genes. Neonatal respiratory distress is common, and diffuse bronchiolitis could be the radiologic feature of CCNO-related PCD.

The hyper immunoglobulin M syndrome(hyper-IgM syndrome, HIGM)is a rare X-linked inherited primary immunodeficiency disease(PID)characterized by defective class switch recombination(CSR)with or without somatic hyper mutation(SHM), resulting in normal or increased levels of serum IgM associated with deficiency of immunoglobulin G(IgG), immunoglobulin A(IgA), and immunoglobulin E(IgE)and antibody dysfunction.Most cases have X-linked recessive inheritance, and a few are autosomal-recessive forms.The clinical manifestations include recurrent infections in early age, tumors and autoimmune diseases.The prognosis is poor, especially for HIGM with X-linked recessive inheritance.And if these patients do not be treated timely after birth, most of them will die early.In order to improve pediatricians′ understanding of the disease, and to timely identify and treat HIGM for an improved prognosis, this paper reviews the pathogenesis, clinical manifestations, diagnosis and treatment of HIGM.

While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported instances of missense mutations of the IKBKG gene causing both Incontinentia Pigmenti (IP) and immunodeficiency in female patients. In this study, we described an atypical IP case in a 19-year-old girl, characterized by hyperpigmented and verrucous skin areas over the entire body. Remarkably, she experienced recurrent red papules whenever she had a feverish upper respiratory tract infection. Immunohistochemical staining unveiled a substantial accumulation of CD68 + macrophages alongside the TNF-α positive cells in the dermis tissue of new pustules, with increased apoptotic basal keratinocytes in the epidermis tissue of these lesions. Starting from the age of 8 years old, the patient suffered from severe and sustained chronic respiratory mucous membrane scar hyperplasia and occluded subglottic lumen. In addition to elevated erythrocyte sedimentation rate values, inflammatory cells were observed in the pathologic lesions of endobronchial biopsies and Bronchoalveolar Lavage Fluid (BALF) smear. Further histological analysis revealed a destructive bronchus epithelium integrity with extensive necrosis. Simultaneously, the patient experienced recurrent incomplete intestinal obstructions and lips contracture. The patient’s BALF sample displayed an augmented profile of proinflammatory cytokines and chemokines, suggesting a potential link to systemic hyperinflammation, possibly underlying the pathogenic injuries affecting the subglottic, respiratory, and digestive systems. Furthermore, the patient presented with recurrent pneumonias and multiple warts accompanied by a T + B low NK low immunophenotype. Next generation sequencing showed that the patient carried a novel de novo germline heterozygous missense mutation in the IKBKG gene (c. 821T>C, p. L274P), located in the highly conserved CC2 domain. TA-cloning sequencing of patient’s cDNA yielded 30 mutant transcripts out of 44 clones. In silico analysis indicated that the hydrogen bond present between Ala270 and Leu274 in the wild-type NEMO was disrupted by the Leu274Pro mutation. However, this mutation did not affect NEMO expression in peripheral blood mononuclear cells (PBMCs). Moreover, patient PBMCs exhibited significantly impaired TNF-α production following Lipopolysaccharide (LPS) stimulation. X-chromosome inactivation in T cells and neutrophils were not severely skewed. Reduced levels of IκBα phosphorylation and degradation in patient's PBMCs were observed. The NF-κB luciferase reporter assay conducted using IKBKG -deficient HEK293T cells revealed a significant reduction in NF-kB activity upon LPS stimulation. These findings adds to the ever-growing knowledge on female IP that might contribute to the better understanding of this challenging disorder.

目的:探讨儿童延髓肿瘤相关的睡眠呼吸障碍的临床特征。方法:回顾分析3例延髓肿瘤伴随的睡眠呼吸障碍患儿的临床资料，并检索国内外相关文献报道进行病例总结。结果:3例患儿中，例1、例2均以睡眠呼吸障碍为表现发现延髓肿瘤，例3为延髓肿瘤术后发现睡眠呼吸障碍，3例患儿均表现为中枢性睡眠呼吸暂停，例2伴有低通气；例2及例3均给予双水平正压通气治疗后症状有所改善，长期随访预后不佳。总结国内外报道的延髓肿瘤合并睡眠呼吸障碍的9例病例，以中枢性呼吸暂停为最常见表现(8例)，其他表现包括阻塞性睡眠呼吸暂停(4例)，中枢性低通气(2例)和睡眠结构紊乱(2例)；延髓肿瘤术后随访显示睡眠呼吸障碍持续存在，需要长期的双水平呼吸支持治疗。结论:延髓肿瘤可引起儿童严重的睡眠呼吸障碍，以中枢性呼吸暂停为主，但症状容易隐匿不易识别；延髓肿瘤引起的中枢性呼吸暂停即使在手术后仍可能持续存在。

Objective:To analyze the clinical characteristics, treatment course and prognosis of children with intermediate-high risk pulmonary embolism.Methods:The clinical data of 48 children with pulmonary embolism treated in Beijing Children′s Hospital, Capital Medical University from January 2017 to December 2021 were analyzed retrospectively.Including 12 intermediate-high risk cases and 36 low-risk cases.The clinical manifestations, laboratory results, treatment and prognosis were compared between groups by the t-test, rank sum test and Chi- square test with the yates continuity correlation or Fisher′ s exact test. Results:There were no significant differences in the sex and age between the intermediate-high risk group and the low-risk group.The proportions of patients with shortness of breath, dyspnea, cyanosis or hypoxemia were higher in the intermediate-high risk group than those of in low-risk group.Twelve children in the low-risk group did not have specific symptoms of pulmonary embolism.There were no significant differences in the D-dimer level, and the distribution of pulmonary embolism between the two groups (all P>0.05). However, the proportion of children with other thromboembolism in the intermediate-high risk group was significantly higher than that of the low-risk group, among which heart thrombosis was the most common (7 cases). There were no significant differences in the underlying diseases and thrombophilia between the two groups (all P>0.05). The treatment of the intermediate-high risk group was more active: 6/12(50.00%) patients in the intermediate-high risk group received reperfusion treatment, including 3 cases of systemic thrombolysis, 1 case of catheter thrombolysis, and 2 cases of thrombectomy.In the low-risk group, only 1 case was treated with systematic thrombolysis.Unfavorable outcomes were reported in 3/48 (6.25%) patients, including 1 death of massive bleeding after catheter-directed thrombolysis in the acute phase, 1 case of recurrent pulmonary embolism after self-decided withdrawal and 1 case of progression of pulmonary embolism that was managed by surgical thrombectomy, all of whom were in the intermediate-high risk group. Conclusions:Shortness of breath, dyspnea, cyanosis or hypoxemia and co-existed venous thromboembolism were more common in intermediate-high risk cases.The treatment regimen of was more aggressive, but the incidence of unfavorable outcomes was higher in intermediate-high risk group; further research is needed to determine the risk factors for intermediate-high risk pulmonary embolism in children.

ABSTRACTImportanceRecurrent respiratory tract infection (RRTI) is common in children. Inappropriate RRTI treatment will lead to asthma and other diseases, thereby seriously affecting the growth and physical health of children. Immune function modulation can prevent and alleviate childhood RRTI. Yupingfeng (YPF), a patented traditional Chinese medicine (TCM), has immunomodulatory effects and is widely used in China to treat children with RRTI.ObjectiveTo evaluate the safety and efficacy of YPF monotherapy in treating children with RRTI.MethodsThis multicenter, randomized, double‐blind, double‐simulation, noninferiority clinical trial was conducted from January 2015 to August 2017, with an 8‐week treatment period and 52‐week follow‐up after the drug withdrawal. Children aged 2–6 years with RRTI meeting the inclusion and exclusion criteria were enrolled in 13 hospitals in China and divided randomly into three groups (2:2:1 ratio) to receive YPF, pidotimod, or placebo. The primary outcome was the proportion of RRTI returning to normal standard level during the follow‐up. The secondary outcomes were reduction in the number of RRTI recurrences, effect on clinical symptoms (in accord with TCM practice), effect per symptom, and safety. The trial was registered at the Chinese Clinical Trials Registry (www.chictr.org.cn) under the unique identifier ChiCTR‐IPR‐15006847.ResultsThree hundred and fifty‐one children were enrolled and randomly assigned to 3 groups; 124, 125, and 61 children in the YPF, pidotimod, and placebo groups, respectively, had completed the trial. During the follow‐up, the proportion of RRTI returning to normal standard level was 73.13%, 67.15%, and 38.81% with YPF, pidotimod, and placebo, respectively (P < 0.0001). The proportion of cases who returned to normal standard level in the YPF group was 34.32% higher than that in the placebo group. The safety profile did not significantly differ among the groups.InterpretationYPF granules were noninferior to the active control drug pidotimod oral solution for the treatment of RRTI in children, and were superior to placebo, with a high safety profile.

Monkeypox is a zoonotic disease. Since the first human monkeypox case was detected in 1970, it has been prevalent in some countries in central and western Africa. Since May 2022, monkeypox cases have been reported in more than 96 non-endemic countries and regions worldwide. As of September 14, 2022, there have been more than 58,200 human monkeypox cases, and there is community transmission. The cessation of smallpox vaccination in 1980, which had some cross-protection with monkeypox, resulted in a general lack of immunity to monkeypox, which caused global concern and vigilance. As of September 14, 2022, there are four monkeypox cases in China, including three in Taiwan province and one in Hong Kong city. Previous foreign studies have shown that children are vulnerable to monkeypox and are also at high risk for severe disease or complications. In order to improve pediatricians’ understanding of monkeypox and achieve early detection, early diagnosis, early treatment, and early disposal, we have organized national authoritative experts in pediatric infection, respiratory, dermatology, critical care medicine, infectious diseases, and public health and others to formulate this expert consensus, on the basis of the latest “Clinical management and infection prevention and control for monkeypox” released by The World Health Organization, the “guidelines for diagnosis and treatment of monkeypox (version 2022)” issued by National Health Commission of the People’s Republic of China and other relevant documents. During the development of this consensus, multidisciplinary experts have repeatedly demonstrated the etiology, epidemiology, transmission, clinical manifestations, laboratory examinations, diagnosis, differential diagnosis, treatment, discharge criteria, prevention, disposal process, and key points of prevention and control of suspected and confirmed cases.

Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one patient to another, and no single test has the sensitivity and specificity to accurately diagnose PCD. Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD. So far more than 40 genes have been associated with PCD, but most research have focused on common genes, which hinders our understanding of other rare PCD-genes. This review has summarized the PCD-associated genes and the corresponding characteristics of dysfunctional cilia, with an aim to provide a basis for early identification of such diseases.

Cystic fibrosis (CF) is a monogenetic disease involving multiple organs.Malnutrition is common in children with CF, and it is closely related to the prognosis and survival of children.Malnutrition is caused by various factors and individualized plans should be made for children with CF at different stages.Besides, it is essentially important to monitor and assess the nutritional status of CF patients in a long term.In 2020, the 8 th edition of the clinical guidelines for the care of children with CF in Royal Brompton Hospital was updated, in which the nutritional management of children with CF was recommended and guided.This part of the guidelines was interpreted in the present paper, including nutritional management and evaluation, tips for pancreatic enzyme replacement therapy, types of nutrition supplement and how to solve the feeding difficulties of children with CF.The aim of this paper is to guide early clinical nutritional management of CF patients and improve their prognosis.