The paper reports a case of 2,8-dihydroxyadenine (2,8-DHA) crystalline nephropathy caused by mutation of adenine phosphoribosyltransferase ( APRT) gene. The female patient was 60 years old, and sought medical advice due to "foaming urine increased for half a year". Renal biopsy result showed irregular yellowish brown 2,8-DHA crystals with refraction under polarized light. 2,8-DHA crystals were found by urine sediment detection, and homozygous deletion of c.521_523delTCT on exon 5 of APRT gene was found by genetic testing. Finally this patient was diagnosed as 2,8-DHA crystalline nephropathy. Renal function improved after treatment with allopurinol. The case report aims to improve the clinician's understanding of 2,8-DHA crystalline nephropathy. Early recognition, correct diagnosis, and early drug intervention may delay the progression of renal failure and improve the prognosis.

Objective:To investigate the role of hepatitis B virus X protein (HBx) in glomerular podocyte immune disorder and its regulatory mechanism.Methods:Fourteen 6-week-old male hepatitis B virus (HBV) transgenic (HBV-Tg) mice were selected, and age-matched wild type (WT) mice were as controls. They were fed to different weeks, and 24 h urinary protein, blood biochemistry, renal pathology and podocyte changes under electron microscope were detected. The expression of HBx and the infiltration of immune cells in kidney tissue of HBV-Tg mice were observed by immunohistochemistry. Human podocyte cell line was transfected with pcDNA3.1/myc-HBx plasmid, and the localization of HBx and Nephrin in podocytes was detected by immunofluorescence. The expression of major histocompatibility complex Ⅱ (MHC-Ⅱ) and co- stimulatory molecule CD40 on the cell surface was detected by flow cytometry. The contents of multiple cytokines in cell culture supernatants were determined by enzyme-linked immunosorbent assay. Transcriptome sequencing (RNA-seq) was used to screen the downstream related genes regulated by HBx, and real-time quantitative PCR was used to verify their expressions. After overexpression or silencing of Notch1 gene with overexpressed plasmids or short hairpin RNA (shRNA) in podocytes, the effects on the expression of immune molecules and cytokines secretion was observed. The Notch receptor inhibitor N-[N-(3, 5-difluorophenyl-l- alanyl)]-(s)-phenylglycine tert-butyl ester (DAPT) was used to block Notch1 signaling pathway in HBV-Tg mice, and then blood biochemistry, renal pathological changes and infiltration of immune cells in kidney tissue were observed. Results:Twenty-four-hour urine protein, serum creatinine and urea nitrogen levels were markedly increased (all P<0.05) and renal pathological injury was significantly aggravated in HBV-Tg mice than those in WT mice. Also, HBx was up-regulated and immune cells infiltrated in the glomerulus of HBV-Tg mice. After transfection with HBx in podocytes, the expression of MHC-Ⅱ and CD40 on the cellular surface was up-regulated (all P<0.05), the contents of monocyte chemotactic protein-1 (MCP-1), tumor necrosis factor -α (TNF-α) and interleukin (IL)-1β in the supernatants were increased (all P<0.05), and the secretion of IL-4 and interferon γ (IFN-γ) was unbalanced. RNA-seq screened downstream genes of HBx, such as Notch1, PLA2R, TLR4, etc; and further confirmed that HBx could promote the up-regulation of Notch1 mRNA and protein (all P<0.05). After over-expression of Notch1 gene, HBx-induced expression of MHC-Ⅱ and CD40 on the cellular surface was significantly up-regulated (all P<0.05), and the contents of MCP-1, TNF-α and IL-1β in the supernatants were obviously increased (all P<0.05), and the imbalance of IL-4/IFN-γ was further aggravated. After Notch1 gene silencing, the above results showed the opposite changes. In vivo, the results indicated that serum creatinine levels were obviously decreased (all P<0.05), renal pathological injury and immune cell infiltration were significantly alleviated in HBV-Tg+DAPT group than those in HBV-Tg+DMSO group. Conclusions:HBx protein can promote the up-regulation of Notch1 signaling pathway in podocytes. And Notch1 signaling pathway promotes the expression of immune molecules on the surface of podocytes and regulates the imbalance of cytokines, then causes glomerular injury and dysfunction of immune microenvironment.

Alport syndrome is a relatively common inherited kidney disease, characterized by significant clinical symptoms, which can lead to renal failure and progress to end-stage renal disease in the late stage. This disease does not only affect the renal system, but also involve other tissues and organs containing basement membranes. Recently, with the advancement of genetic engineering technology, there has been a deeper understanding on the molecular pathogenesis of Alport syndrome, and the application of gene sequencing technology has provided new means for diagnosis, supplementing the traditional pathological examination method of renal biopsy. In addition, gene-based therapies are also under exploration, opening up new directions for future treatment strategies. This paper aimed to summarize the relevant knowledge of Alport syndrome based on the current progress in genetic researches, with the hope of providing a theoretical basis for clinical practice.

China has classified the Corona Virus Disease 2019(COVID-19) as a statutory category B infectious disease and managed it according to Category B since January 8, 2023.In view that Omicron variant is currently the main epidemic strain in China, in order to guide the treatment of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection in children with the times, refer to the Diagnosis and Treatment Protocol for Novel Coronavirus Infection (Trial 10 th Edition), Expert Consensus on Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fourth Edition) and the Diagnosis and Treatment Strategy for Pediatric Related Viral Infections.The Expert Consensus on the Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fifth Edition) has been formulated and updated accordingly on related etiology, epidemiology, pathogenic mechanism, clinical manifestations, auxiliary examination, diagnosis and treatment, and added key points for the treatment of COVID-19 related encephalopathy, fulminating myocarditis and other serious complications for clinical reference.

Monkeypox is a zoonotic disease.Previous 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, the committee composed of more than 40 experts in the related fields of infectious diseases, pediatrics, infection control and public health 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 (WHO), 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 and differential diagnosis, treatment, discharge criteria, prevention, case management process and key points of prevention and control about monkeypox.

Since December 2019, severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infections have raged globally for more than 2 years.China has always adopted scientific and effective prevention and control measures to achieved some success.However, with the continuous variation of SARS-CoV-2 cases and imported cases from abroad, the prevention and control work has become more difficult and complex.With the variation of the mutant strain, the number of cases in children changed, and some new special symptoms and complications were found, which proposed a new topic for the prevention and treatment of SARS-CoV-2 infection in children in China.Based on the third edition, the present consensus according to the characteristics of the new strain, expounded the etiology, pathology, pathogenesis, and according to the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of effective prevention and treatment of SARS-CoV-2 infection in children in China.

2019 novel coronavirus(2019-nCoV) outbreak is one of the public health emergency of international concern.Since the 2019-nCoV outbreak, China has been adopting strict prevention and control measures, and has achieved remarkable results in the initial stage of prevention and control.However, some imported cases and sporadic regional cases have been found, and even short-term regional epidemics have occurred, indicating that the preventing and control against the epidemic remains grim.With the change of the incidence proportion and the number of cases in children under 18 years old, some new special symptoms and complications have appeared in children patients.In addition, with the occurrence of virus mutation, it has not only attracted attention from all parties, but also proposed a new topic for the prevention and treatment of 2019-nCoV infection in children of China.Based on the second edition, the present consensus further summarizes the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of treatment of 2019-nCoV infection in children.

Objective:To analyze the gene variants in patients with primary distal renal tubular acidosis (dRTA), and explore the correlation between the genotype and phenotype.Methods:The Sanger direct sequencing or whole-exome sequencing was used to identify causal variants and the variation pathogenicity was evaluated according to 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines in 44 dRTA patients (37 families) diagnosed in the Affiliated Qingdao Municipal Hospital of Qingdao University and the Affiliated Hospital of Qingdao University from April 2010 to September 2020. The clinical features of the patients were summarized, and the correlation between the genotype and phenotype was investigated.Results:Seven variants of SLC4A1 gene, 17 variants of ATP6V0A4 gene, and 15 variants of ATP6V1B1 gene were identified in 44 patients with dRTA, and of which 11 variants were new ones. According to ACMG guidelines, the pathogenic, likely pathogenic, benign variants among the 39 variants were 22, 16 and 1, respectively. Nine patients were autosomal dominant hereditary dRTA caused by SLC4A1 gene mutation, 4 patients with autosomal recessive hereditary dRTA complicated with Southeast Asian ovalocytosis and anemia were caused by SLC4A1 gene mutation, and 14 patients caused by ATP6V0A4 gene mutation and 8 patients caused by ATP6V1B1 gene mutation were autosomal recessive hereditary dRTA; Two children with dRTA were found to carry one monoallelic defect in ATP6V1B1, and no causal gene mutation was identified in 7 patients. One patient showed incomplete dRTA, and the other 43 patients showed complete dRTA. The prevalence of sensory neural hearing loss caused by ATP6V0A4 and ATP6V1B1 mutation were 2/14 and 6/10 respectively. The frequency of chronic kidney disease in adults, children and infants were 4/4, 2/4, and 1/36, separately. After the drug treatment based on potassium citrate and sodium citrate, the growth and development (28/40) and electrolyte disturbance (41/44) of most patients were significantly improved. Conclusions:The present study has identified 39 variants of SLC4A1, ATP6V0A4 and ATP6V1B1 genes in 44 patients with dRTA, including 11 novel ones. There is a close relationship between genotype and phenotype in dRTA patients and most patients' conditions were improved after proper treatment. This study enriches the human gene mutation database and provides valuable references for diagnosis, treatment and genetic counseling in patients with dRTA.

At present, severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still rampant worldwide.As of September 10, 2021, there were about 222 million confirmed cases of corona virus disease 2019(COVID-19)and more than 4.6 million deaths worldwide.With the development of COVID-19 vaccines and the gradual vaccination worldwide, the increasing number of cases in children and unvaccinated young people has drawn attention.According to World Health Organization surveillance data, the proportion of COVID-19 infection cases in children gradually increased, and the proportion of cases in the age groups of under 5 years and 5-14 years increased from 1.0% and 2.5% in January 2020 to 2.0% and 8.7% in July 2021, respectively.At present, billions of adults have been vaccinated with various COVID-19 vaccines worldwide, and their protective effects including reducing infection and transmission, reducing severe disease and hospitalization, and reducing death, as well as high safety have been confirmed.Canada, the United States, Europe and other countries have approved the emergency COVID-19 vaccination in children and adolescents aged 12 to 17 years, and China has also approved the phased vaccination of COVID-19 vaccination in children and adolescents aged 3 to 17 years. For smooth advancement and implementation of COVID-19 vaccination in children, academic institutions, including National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health, and The Society of Pediatrics, Chinese Medical Association organized relevant experts to reach this consensus on COVID-19 vaccination in children.

Severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still worldwide.As a vulnerable group, severe and dead pediatric cases are also reported.Under this severe epidemic situation, children should be well protected.With the widespread vaccination of SARS-CoV-2 vaccine in adults, the infection rate have decreased.Therefore, SARS-CoV-2 vaccine inoculation for children groups step by step is of great significance to the protection of children and the prevention and control of corona virus disease 2019(COVID-19) as a whole.But the safety of children vaccinated with SARS-CoV-2 vaccine is a main concern of parents.Therefore, in order to ensure the safety of vaccination and the implementation of vaccination work, National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health and the Society of Pediatrics, Chinese Medical Association organized experts to interpret the main issue of parents about SARS-CoV-2 vaccine for children, in order to answer the doubts of parents.