Genes, Recessive ; Humans ; Nephritis, Hereditary ; diagnosis ; Nephrotic Syndrome ; diagnosis

Objective To analyze the early risk factors of overweight and obesity in preschool children.Methods Using stratified cluster sampling,the data of 1 335 preschool children's physical examination in High-tech Zone,Urumqi,Xinjiang were collected,and the case group had 153 overweight and obese children,the control group had 1 182 non-overweight and obese children;a case-control study was conducted.The basic data of mothers and the basic data of neonatal birth were analyzed retrospectively.The univariate and unconditional multivariate logistic regression analysis was performed.Results The prevalence of overweight and obesity in preschool children in High-tech Zone in Urumqi was 11.5％.Non-conditional multivariate logistic regression analysis showed that children's age (OR=1.31,95％ CI:1.07-1.61),mother's pre-pregnancy BMI (OR=1.11 95 ％,CI:1.06-1.17) and whether mothers had gestational hypertension (OR=1.99 95％,CI:1.03-3.85) were the risk factors for overweight and obesity in preschool children (P＜0.05).Conclusion In Urumqi high school district preschool children's overweight and obesity rate was high;mothers with high BMI before pregnancy,and those with high blood pressure during pregnancy can increase the risk of overweight and obesity in children,preschool children's increased age may increase the risk of overweight and obesity in children.

Objective To study the efficacy of sequential blood purification treatment of bee poisoning complicated by multiple organ disfunction syndrome (MODS).Methods The 11 cases of children with bee poisoning and MODS from Wuhan Children's Hospital were treated with sequential blood purification therapy,and they were treated with plasma exchange (PE),hemoperfusion (HP) and sequential continuous renal replacement therapy (CRRT) simultaneously in the early stage,and then were treated with intermittent hemodialysis (IHD) in the remission stage.Different modes of purification treatment were applied in different stages.The trends of liver function,renal function and myocardial enzymes were observed in 11 cases before and after therapy,later a retrospective analysis was performed,and the efficacy of sequential blood purification was studied.Results Ten in 11 cases of children were treated with HP,CRRT and IHD therapy,and among them 6 cases were treated with PE on the first day of admission.One case,the youngest of children admitted to hospital less than 24 hours,died of sudden cardiac arrhythmia due to toxic myocarditis.In ten cases of the children after treatment,their myocardial enzymes returned to normal at first,and then jaundice and hepatic function improved,and renal function gradually improved after 10 days.Two weeks after discharge,through reviewing of the liver and kidney function,myocardial enzymes returned to normal indicators.In review of urine,5 cases were accompanied with microscopic hematuria,3 cases were accompanied with hematuria and proteinuria,and 2 cases were completely normal.The improved cure rate was 91％ (10/11 cases).Conclusions Sequential blood purification treatment is the main and effective means for severe bee poisoning complicated with MODS in children in the early stage.

With persistent progress in donor-recipient evaluation criteria, organ procurement and preservation regimens and surgical techniques, the incidence of vascular complication after kidney transplantation has been declined, whereas it is still one of the most severe surgical complications of kidney transplantation, which may lead to graft loss and recipient death, and seriously affect the efficacy of kidney transplantation. Therefore, the occurrence, clinical manifestations, diagnosis and treatment strategies of common vascular complications after kidney transplantation, including vascular stenosis, arterial dissection, pseudoaneurysm, vascular rupture and thrombosis were reviewed in this article. In combination with the incidence, diagnosis and treatment of vascular complications after kidney transplantation in the First Affiliated Hospital of Xi'an Jiaotong University, diagnosis and treatment strategies for common vascular complications after kidney transplantation were summarized, aiming to provide reference for clinical diagnosis and treatment of vascular complications after kidney transplantation, lower the incidence of vascular complications, and improve clinical efficacy of kidney transplantation and survival rate of recipients.

Objective:To explore the clinical efficacy of treating external iliac artery dissection in renal transplantation by artificial vascular replacement.Methods:Four sudden intraoperative cases of external iliac artery dissection were selected.After removing vascular sutures, intimal arterial peeling blocked external iliac artery( n=3)and transplanted renal artery( n=1). Artificial vascular replacement of external iliac artery was performed using artificial vessels made from puffed polytetrafluoride ethylene(ePTFE). Secondary perfusion was performed in four transplanted kidneys for anastomosing with internal iliac artery. Results:One patient regained normal renal function within 1 week post-operation.Two cases had delayed graft function.Another case had delayed graft function plus acute rejection.After hemodialysis, renal function normalized at 2-3 weeks post-operation.During a follow-up period of(0.5-5.0)years, transplanted kidney function remained stable, blood supply, skin temperature and movement of operated lower extremities normalized.Conclusions:The incidence of vascular dissection of external iliac artery is not high during renal transplantation.However, the disease has a rapid and dangerous progression.The consequences of delayed intervention are quite serious.Treating external iliac artery dissection with renal transplantation may achieve satisfactory clinical outcomes.

Objective:Discuss the etiological characteristics of pulmonary infection after renal transplantation and the diagnostic value of metagenomics nextgeneration sequencing (mNGS) technique.Methods:A total of 40 patients with pulmonary infection who were admitted to the Department of Renal Transplantation of the First Affiliated Hospital of Medical College, Xi'an Jiaotong University from January, 2018 to January, 2021 were selected, and identification of pathogens through routine pathogen detection methods and mNGS. The routine pathogen detection methods included: blood culture, bronchoalveolar lavage fluid (BALF) and sputum culture and smear staining, lung histopathology, antigen detection and PCR, etc. BALF were used to search for pathogens by mNGS. Combined with the results of the two groups to give accurate anti-infection treatment, the clinical data were retrospectively analyzed.Results:Eventually 36 patients were cured and discharged, and 4 patients deaths. In 40 cases of pulmonary infection, the BALF mNGS pathogens detection of BALF was positive in 37 cases and negative in 3 patients, with a detection sensitivity of 92.5%. In addition, there were 15 cases of single pulmonary infection and 22 cases of mixed pulmonary infection, including 8 cases of bacterial infection, 9 cases of viral infection and 20 cases of fungal infection, among which pneumocystis (20/40, 50%) and cytomegalovirus (10/40, 25%) were the most common. In contrast, the positive rate of pathogens by routine detection were only 30% (12/40), and the difference between the two detection methods was statistically significant ( χ2=32.92, P<0.05). The diagnostic rates of mixed pulmonary infection were 55% and 10% respectively, the difference was statistically significant ( χ2=18.46, P<0.05), the single type pulmonary infection was 30% and 20% respectively, the difference was not statistically significant( χ2=2.99, P>0.05). Conclusions:mNGS has more advantages than routine pathogen detection methods in terms of pathogen species and distribution, detection time, sensitivity, mixed infection diagnosis rate and benefit. Using mNGS can be more efficient to find pathogens of pulmonary infection after renal transplantation, take accurate treatment, reduce costs, and improve cure rate, such as worth wide application..

Objective:To explore the pathogenesis, diagnosis and treatment of pneumocystis jirovecii pneumoniae (PJP) after renal transplantation.Methods:A total of 20 PJP patients were selected from January 2018 to January 2020. The major symptoms included fever, chest tightness, dyspnea and cough with minimal sputum. Chest computed tomography (CT), laboratory tests and metagenomic next-generation sequencing (mNGS) of bronchoscopic pulmonary alveolar perfusion fluid (BALF) were performed. They received cotrimoxazole (SMZ: 18.75-25 mg/kg + TMP: 3.75-5 mg/kg q6 h) and basic regimen of caspofungin (50-70 mg/d) for 14-21 days. At the same time, bacterial, fungal or viral infections were treated, immunosuppressants were tapered or discontinued, supportive therapy and methylprednisolone, immunoglobulin and continuous renal replacement therapy (CRRT) were provided. Chest CT examination was performed for 5-7 days to evaluate the therapeutic effect and clinical data were retrospectively analyzed.Results:Among them, fever was predominant in 13 cases with an average body temperature of (38.8±0.68) ℃ while chest tightness and dyspnea occurred in 7 cases. Fourteen patients presented hypoxemia, 13 received non-invasive ventilator assisted breathing, 1 received mechanical ventilation via endotracheal intubation and the remainders received mask oxygen therapy. Seventeen patients were cured and discharged from hospital for 12~90 days. Three patients died of respiratory and circulatory failures due to deteriorating pulmonary infection. And 19 patients had elevated renal function initially and basically normalized around 2 weeks.Conclusions:PJP is one of the most serious complications after renal transplantation. Timely diagnosis and targeted treatment are essential. And mNGS examination plays a crucial role in the diagnosis of PJP. The basic anti-infective scheme of compound sulfamethoxazole plus carbophennet is efficacious. At the same time, appropriate tapering or discontinuation of immunosuppressants, supportive therapy and assisted respiration are also important.

Humans ; Living Donors ; Tissue and Organ Harvesting ; Nephrectomy ; Printing, Three-Dimensional ; Technology ; Laparoscopy

Objective:To explore the clinical efficacy of ceftazidime/avibactam(CZA)plus aztreonam(ATM)for New Delhi metallo-β-lactamase(NDM)carbapenem-resistant Klebsiella pneumoniae(CRKP)infection after kidney transplantation.Methods:Clinical data are retrospectively reviewed for 11 RT recipients infected with NDM metallo-β-lactamase CRKP admitted into First Affiliated Hospital of Xi 'an Jiaotong University and Affiliated Renji Hospital of Shanghai Jiao Tong University from November 2018 to December 2019.Based upon treatment protocol, they are divided into two groups of ceftazidime/avibactam plus aztreonam(CZA-ATM, 5 cases)and other effective antibiotics(OAA, 6 cases).Age, gender, infection type, drug resistance gene, changes in body temperature and leucocyte count, treatment course and prognosis are summarized.Results:A total of 11 patients with NDM-producing CRKP infection after RT are recruited.There are seven males and four females with an age range of(19~66)(38.9±14.4)years.There are mixed pulmonary and urinary tract infections(3 cases), urinary tract infection(2 cases), pulmonary infection(1 case)and perirenal infection(5 cases).All isolates harbore NDM carbapenemase gene, 5 isolates carry Klebsiella pneumoniae carbapenemase(KPC)gene and 1 isolate contained both imipenemase metallo-β-lactamase(IMP)and verona integron-encoded metallo-β-lactamase(VIM)gene concurrently.Ceftazidime-avibactam plus aztreonam(CZA-ATM)is prescribed in five patients while the remainders receive OAA.No adverse reactions occurred in individuals on CZA-ATM and 2 cases on OAA have adverse reactions with a poor appetite and diarrhea.After 30-day infection, the curative cases of CZA-ATM and OAAs groups reach 4 and 5 respectively.No death occurred in neither groups at Day 30.And 90-day mortality is 0 and 1 respectively.Conclusions:For RT patients infected with NDM-producing CRKP, CZA-ATM combination therapy may be another effective treatment.

Objective:To analyze the correlation between clinical phenotypes and genotypes in 6 children with primary distal renal tubular acidosis (dRTA).Methods:The clinical data of 6 children confirmed as dRTA in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology from November 2017 to August 2019 were collected, and related auxiliary examination was performed to assess their growth and development.The venous whole blood was reserved for Trio whole exome sequencing, and full spectrum genetic disease accurate diagnosis cloud platform was applied to systematic data screening and analysis.The suspected mutations were checked by Sanger sequencing, and then the role of protein was predicted by software.Results:Clinical manifestations, signs and auxiliary examination results of the 6 children accorded with the diagnostic criteria of dRTA, and the prominent characteristics was growth retardation.One case had knee valgus, one had osteoporosis, and the auxiliary examination results showed that both of them had alkaline urine, metabolic acidosis, and hypokalemia.Three children had nephrocalcinosis, and 2 children had nephrolithiasis.The parents of the 6 patients were all normal without phenotypes.Mutations in the SLC4A1 gene were identified in 4 patients, including 1 child with a reported homozygous autosomal recessive missense mutation(c.2102G>A, p.G701D), who had dRTA and hemolytic anemia, and 3 children with the reported de novo heterozygous autosomal dominant missense mutation(c.1766G>A, p.R589H, c.1765C>T, p.R589C), whose age at diagnosis was related to abnormal renal imaging.Compound heterozygous autosomal recessive mutations in the ATPV1B1 gene were identified in 1 patient, and they were novel heterozygous missense mutations (1153C>A, p.P385T and c. 806C>T, p.P269L). A novel homozygous autosomal recessive missense mutation was identified in 1 patient in the ATPV0A4 gene(c.1899C>A, p.Y633X, 208). Conclusions:Mutations in SLC4A1, ATP6V1B1, ATP6V0A4 genes are identified as the main causes of the primary dRTA, and the phenotypes was related to the mutation features and genotypes.Genetic test should be conducted on patients suspected as dRTA for early molecular diagnosis, thereby improving clinical phenotypic screening and individualized treatment.