Analysis of Clinical Features and Risk Factors for Oral Ulcers and Bloodstream Infection in Patients with Hematopoietic Stem Cell Transplantation / 中国实验血液学杂志

OBJECTIVE@#To investigate the risk factors of oral ulcers and bloodstream infection in patients with hematopoietic stem cell transplantation.@*METHODS@#The clinical data of 401 hematopoietic stem cell transplant patients in the First Affiliated Hospital of Zhengzhou University from January 2020 to December 2021 were retrospective analyzed, and the risk factors of oral ulcers and bloodstream infection statistical and analyzed.@*RESULTS@#Among the 401 patients, the incidence of oral ulcers was 61.3% (246/401), and the incidence of bloodstream infection was 9.0% (36/401). A total of 40 strains of pathogenic bacteria were isolated from 36 patients, including 26 strains of Gram negative strains (65%), 13 strains of Gram positive strains (32.5%), and 1 strain of fungi (2.5%). Single-factor analysis showed that oral hygiene was associated with the occurrence of bloodstream infection, and the Multi-factor analysis showed that age ≥14 years old, disease diagnosis of leukemia, and allogeneic hematopoietic stem cell transplantation were risk factors for oral ulcers.@*CONCLUSION@#The incidence of oral ulcers in patients with hematopoietic stem cell transplantation is high. The age ≥14 years, disease diagnosis of leukemia, and allogeneic hematopoietic stem cell transplantation were risk factors for oral ulcers in patients, and oral hygiene was associated with the occurrence of bloodstream infection.

Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report / 中国当代儿科杂志

A full-term female infant was admitted at 5 hours after birth due to heart malformations found during the fetal period and cyanosis once after birth. Mmultiple malformations of eyes, face, limbs, and heart were noted. The whole-exome sequencing revealed a pathogenic heterozygous mutation, c.2428C>T(p.Arg810*), in the BCOR gene. The infant was then diagnosed with oculo-facio-cardio-dental syndrome. He received assisted ventilation to improve oxygenation and nutritional support during hospitalization. Right ventricular double outlet correction was performed 1 month after birth. Ocular lesions were followed up and scheduled for elective surgery. The possibility of oculo-facio-cardio-dental syndrome should be considered for neonates with multiple malformations of eyes, face, and heart, and genetic testing should be performed as early as possible to confirm the diagnosis; meanwhile, active ophthalmic and cardiovascular symptomatic treatment should be given to improve the prognosis.

Progress of the treatment of steroid sensitive nephrotic syndrome in children / 中华实用儿科临床杂志

Primary nephrotic syndrome (NS) is a common kidney disease in children.Around 80% to 90% of children with NS are sensitive to corticosteroid treatment.Most of the children with NS will relapse after the first remission, and 50% to 70% of them will develop frequent relapse or steroid dependence.The main target of treatment is to prevent relapse while minimizing the adverse effects of medications.The progress of the treatment of steroid sensitive NS is reviewed in order to provide evidence for individualized therapy.

Cloning and functional characterization of isopentenyl diphosphate isomerase genes from Panax vietnamensis var. fuscidiscus / 药学学报

Isopentenyl diphosphate isomerase (IDI) is a key enzyme in the regulation of triterpenes biosynthesis and plays an important role in ginsenoside biosynthesis. In this study, two IDI genes, PvfIDI1 (GenBank No. MZ736417) and PvfIDI2 (GenBank No. MZ736418) were cloned from Panax vietnamensis var. fuscidiscus. The open reading frame of both PvfIDI1 and PvfIDI2 was 924 bp encoding 307 amino acids. The molecular weights of PvfIDI1 and PvfIDI2 were 34.84 kDa and 34.66 kDa, respectively, with theoretical pIs of 6.01 and 5.66. Bioinformatic analysis indicated that PvfIDI1 and PvfIDI2 contained two conserved sequences: TNTCCSHPL and WGEHELDY. Phylogenetic analysis showed that PvfIDI1 and PvfIDI2 were closely related to Panax notoginseng IDI. Expression analysis showed that both PvfIDI1 and PvfIDI2 genes are expressed in root, rhizome, stem and leaf of P. vietnamensis var. fuscidiscus. However, PvfIDI1 is highly expressed in the rhizome and PvfIDI2 is highly expressed in the stem. PvfIDI1 and PvfIDI2 recombinant proteins were expressed in E. coli; a functional coloration experiment showed that PvfIDI1 and PvfIDI2 could promote the accumulation of lycopene, indicating that both PvfIDI1 and PvfIDI2 encode functional IDI enzymes. The cloning and functional studies on PvfIDI1 and PvfIDI2 provide a foundation for the further study of IDI and the regulation of ginsenoside biosynthesis in P. vietnamensis var. fuscidiscus.

Selection of optimal qRT-PCR reference genes for Aconitum vilmorinianum / 中国中药杂志

Screening suitable reference genes is the premise of quantitative Real-time PCR(qRT-PCR)for gene expression analysis. To provide stable reference genes for expression analysis of genes in Aconitum vilmorinianum, this study selected 19 candidate re-ference genes(ACT1, ACT2, ACT3, aTUB1, aTUB2, bTUB, 18S rRNA, UBQ, eIF2, eIF3, eIF4, eIF5, CYP, GAPDH1, GAPDH2, PP2A1, PP2A2, ACP, and EF1α) based on the transcriptome data of A. vilmorinianum. qRT-PCR was conducted to profile the expression of these genes in the root, stem, leaf, and flower of A. vilmorinianum. The Ct values showed that 18S rRNA with high expression level and GAPDH2 with large expression difference among organs were not suitable as the reference genes. NormFinder and geNorm showed similar results of the expression stability of the other candidate reference genes and demonstrated PP2A1, EF1α, and CYP as the highly stable ones. However, BestKeeper suggested EF1α, ACT3, and PP2A1 as the top stable genes. In view of the different results from different softwares, the geometric mean method was employed to analyze the expression stability of the candidate re-ference genes, the results of which indicated that PP2A1, EF1α, and ACT3 were the most stable. Based on the comprehensive analysis results of geNorm, NormFinder, BestKeeper, and geometric mean method, PP2A1 and EF1α presented the most stable expression in different organs of A. vilmorinianum. PP2A1 and EF1α were the superior reference genes for gene expression profiling in different organs of A. vilmorinianum.

Involvement of over-production of IP 3R-Grp75-VDAC1-MCU calcium axis molecules accompanied with mTORC1 hyper-activation in Adriamycin induced nephropathy rat / 中华实用儿科临床杂志

Objective:To investigate the expression of inositol 1, 4, 5-triphate receptor (IP 3R)-glucose-regulated protein 75 (Grp75)-voltage dependent anion channel 1 (VDAC1)-mitochondrial Calcium uniporter (MCU) Calcium axis molecules in proteinuria and to explore its upstream regulator. Methods:Sixteen Sprague Dawley rats were divided into control group (6 rats) and Adriamycin (ADR) group (10 rats). Nephropathy rat model was established by single injection of ADR through tail vein.The glomerular expression of IP 3R, Grp75, VDAC1, MCU and the activation marker of mammalian target of Rapamycin complex 1 (mTORC1) were analyzed by immunohistochemical staining.In cultured mouse podocyte, ADR was used to induce podocyte injury, and the Everolimus of different concentrations was applied for intervention.The expression of the Calcium axis molecules and apoptosis marker was analyzed. Results:Compared with control group, the glomerular expression of IP 3R (0.02±0 vs.0, P<0.001), Grp75 (0.04±0 vs.0, P<0.001), VDAC1 (0.04±0 vs.0.01±0, P<0.001), and MCU (0.05±0.01 vs.0.01±0, P<0.001) were significantly increased in ADR-induced nephropathy rats, and the activation marker of mTORC1 (0.57±0.01 vs.0.18±0, P<0.001) was increased as well.In cultured mouse podocytes, compared with control group, the expression of Grp75 (1.89±1.17 vs.0.16±0.08, P=0.001), VDAC1 (1.59±0.34 vs.0.20±0.07, P=0.006), and MCU (1.56±0.38 vs.0.46±0.35, P=0.014) were obviously increased in ADR induced podocytes, and the activation marker of mTORC1 (2.12±0.08 vs.0.39±0.09, P<0.001) was also increased.Compared with the ADR induced podocytes, the expression of Grp75 (0.26±0.20 vs.1.89±1.17, P=0.001), VDAC1 (0.40±0.26 vs.1.59±0.34, P=0.014) and MCU (0.60±0.32 vs.1.56±0.38, P=0.029) in podocytes treated with ADR and 1.0 nmol/L Everolimus were remarkably decreased, accompanied with the decrease of mitochondrial calcium [(2 664.00±140.57) U vs.(3 025.16±180.92) U, P=0.023] and apoptosis marker cleaved Caspase-3 (0.55±0.28 vs.1.48±0.45, P=0.011). Conclusions:The over-production of IP 3R-Grp75-VDAC1-MCU Calcium axis molecules accompanied with the hyper-activation of mTORC1 was involved in ADR induced nephropathy rats.mTORC1 inhibitor decreased the expression of Calcium axis molecules in mouse podocytes, which might involve in the mechanism of mTORC1 inhibitor′s effects on podocyte.

Introduction of recommendations on the diagnosis and management of steroid-resistant nephrotic syndrome in children proposed by the International Pediatric Nephrology Association / 中华实用儿科临床杂志

On May 7, 2020, the International Pediatric Nephrology Association released the clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.The recommendations suggested new diagnostic definitions to guide treatment.In addition, more practical suggestions on diagnostic procedures of steroid-resistant nephrotic syndrome, indications, contraindications and protocols for non-immunosuppressive and immunosuppressive therapies, and management of complications and end-stage kidney diseases were proposed.The main points of the recommendations are introduced in this article.

Efficacy of recombinant human thrombopoietin combined with high-dose dexamethasone in the treatment of refractory immune thrombocytopenia in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the efficacy and safety of recombinant human thrombopoietin (rhTPO) combined with high-dose dexamethasone (DXM) in the treatment of children with refractory immune thrombocytopenic purpura (ITP).</p><p><b>METHODS</b>Fifty-eight ITP children who had failed first-line therapy were randomly divided into two groups: DXM treatment (n=27) and rhTPO + DXM treatment (n=31). The DXM treatment group received two continuous cycles of DXM treatment; in each cycle, patients received high-dose DXM (0.6 mg/kg daily) by intravenous drip for 4 days every 28 days. The rhTPO group received subcutaneous injection of rhTPO (300 U/kg daily) for 14 days additional to DXM treatment. The overall response rate (marked response rate + slight response rate) and adverse reactions were evaluated after 3, 7, and 14 days and 1, 2, and 3 months of treatment.</p><p><b>RESULTS</b>After 7 and 14 days and 1 month of treatment, the rhTPO + DXM treatment group had a significantly higher marked response rate and a significantly higher overall response rate than the DXM treatment group (P<0.05). After 2 months of treatment, the rhTPO + DXM treatment group had a significantly higher overall response rate than the DXM group (P<0.05). One patient in the DXM treatment group had liver damage during the first week of treatment. There was no hypertension, fever, rash, allergy, or weakness in the two groups.</p><p><b>CONCLUSIONS</b>rhTPO combined with high-dose DXM is an effective and safe approach for treating refractory ITP.</p>

Thrombolytic Effect of Urokinase-containing Targeted Microbubble on Rabbit Femoral Artery Under Ultrasonic Guidance / 中国医学影像学杂志

Purpose To observe the thrombolytic effect of different ultrasonic frequencies combined with urokinase-containing targeted microbubble contrast agent on rabbit femoral artery,to explore the main influencing factors,and to determine the potential indicators related to recurrent embolism in the microcirculation.Materials and Methods Unilateral femoral arterial thrombosis models were established in the selected 72 New Zealand white rabbits,which were randomly divided into 12 groups,6 rabbits in each group.This study was performed on an experimental combination of three factors and different levels,including different ultrasonic frequencies (1.6,2.2,2.8 MHz),different ultrasonic irradiation time (30 and 60 min),and different urokinase dose (3 and 6 mg).Thrombolysis with urokinase-containing targeted microbubble was performed under low frequency ultrasonic assisted irradiation,the recanalization status of blood vessels was observed,and recurrent embolism in the microcirculation was confirmed by HE staining.Furthermore,rabbit blood samples were collected,with indicators,including 6-keto-prostaglandin F1a (6-keto-PGF1a),Thromboxane B2 (TXB2),P/T ratio (6-keto-PGF1a/TXB2) and P-selectin (SP) being detected.Results All the vessels were recanalized.There was no occurrence of recurrent embolism in the group with ultrasonic frequency of 2.2 MHz,radiation time of 30 min,and urokinase dose of 3 mg.Rabbits' blood vessels were observed to be not completely recanalized in other groups,accompanied with different degree of recurrent embolism in the microcirculation.6-keto-PGF 1 a content of the rabbits in the group without recurrent embolism obviously increased after thrombolysis,and the difference was statistically significant (P＜0.05).While,there was no statistical difference in other indicators (P＞0.05).Conclsion The thrombolysis with ultrasound frequency of 2.2 MHz,irradiation time of 30 min,and urokinase dose of 3 mg could achieve complete recanalization of blood vessels.Under the certain conditions of ultrasonic frequency,irradiation time and urokinase dosage,thrombus can be effectively dissolved.However,there may be risk of recurrent embolism in the microcirculation during thrombolysis process.The increase of 6-keto-PGF 1a content has a certain effect on reducing the formation of recurrent embolism in the microcirculation.

Advances in diagnosis and treatment of Nutcracker syndrome—Based on the guideline of Nutcracker syndrome in England / 中华实用儿科临床杂志

Patients with Nutcracker syndrome manifest with different symptoms,and microscopic non - glomerular hematuria,orthostatic proteinuria are the common features,and orthostatic intolerance,abdominal or flank pain,gastroin-testinal symptoms and gonadal varices,etc. are also can be seen. Severe syndromes can lead to hemorrhagic anemia and renal thrombosis. Patients with uncommon symptoms might be misdiagnosed or missed diagnosis. Around 75％ of children with Nutcracker syndrome will relieve after 24 months conservative therapy. Some patients with orthostatic adjustment disorder can be effectively treated by midodrine and cortin,however,some children with severe symptoms need surgical treatment. Now,the progress on diagnosis and treatment of Nutcracker syndrome based on guideline published by England in 2017 is introduced.

Etiology analysis of 86 children with end-stage renal disease in a single-center / 中华实用儿科临床杂志

Objective To investigate the etiology composition of end-stage renal disease (ESRD) in children,in order to provide reference for the prevention and treatment.Methods The children with ESRD who were diagnosed in Peking University First Hospital from January 2005 to October 2013 were selected,and the etiology composition and incidence of the children with ESRD were retrospectively analyzed.Diagnostic criteria for children with ESRD refer to the clinical practice guidelines for chronic renal disease (NKF/KDOQI),developed by the American kidney foundation in 2002.Results Eighty-six children with ERSD were enrolled including 53 cases of males,33 cases of females,with the male to female ratio of 1.61 ∶ 1.00 and the mean onset age was (7.08 ± 4.23) years old,and their average diagnosis age was(9.25 ±4.17) years old.The median duration of ERSD before diagnosis was 0.84(0.01-13.67)years.The main cause of ESRD was acquired renal disease,accounting for 43.02％ (37/86 cases),mainly the chronic glomerulonephritis (18/86 cases,20.93％) and nephrotic syndrome (16/86 cases,18.60％);followed by urinary congenital abnormity,accounting for 40.70％ (35/86 cases),in which the most common were renal dysplasia (18/86 cases,20.93％) and cystic renal disease (11/86 cases,12.79％).Children under 3 years old mainly showed congenital urinary tract abnormalities(6/10 cases,60.00％).But children over 3 years old mainly showed acquired renal diseases (37/76 cases,48.7％),and pathologic classification of glomerular disease were proliferative mesangial glomerulonephritis (6/23 cases,26.09％),focal segmental glomerulosclerosis (5/23 cases,21.74％) and interstitial nephritis(3/23 cases,13.04％).Conclusions The main etiology of ESRD is glomerular disease and congenital abnormal development of urinary system,therefore,more attention should be paid on the ultrasound screening of the urinary tract in the perinatal period and urine screening in children.There are great significances in reducing the incidence of ESRD and intervening actively the progression to chronic kidney disease.

Etiology analysis of 86 children with end-stage renal disease in a single-center / 中华实用儿科临床杂志

Objective To investigate the etiology composition of end-stage renal disease (ESRD) in children,in order to provide reference for the prevention and treatment.Methods The children with ESRD who were diagnosed in Peking University First Hospital from January 2005 to October 2013 were selected,and the etiology composition and incidence of the children with ESRD were retrospectively analyzed.Diagnostic criteria for children with ESRD refer to the clinical practice guidelines for chronic renal disease (NKF/KDOQI),developed by the American kidney foundation in 2002.Results Eighty-six children with ERSD were enrolled including 53 cases of males,33 cases of females,with the male to female ratio of 1.61 ∶ 1.00 and the mean onset age was (7.08 ± 4.23) years old,and their average diagnosis age was(9.25 ±4.17) years old.The median duration of ERSD before diagnosis was 0.84(0.01-13.67)years.The main cause of ESRD was acquired renal disease,accounting for 43.02％ (37/86 cases),mainly the chronic glomerulonephritis (18/86 cases,20.93％) and nephrotic syndrome (16/86 cases,18.60％);followed by urinary congenital abnormity,accounting for 40.70％ (35/86 cases),in which the most common were renal dysplasia (18/86 cases,20.93％) and cystic renal disease (11/86 cases,12.79％).Children under 3 years old mainly showed congenital urinary tract abnormalities(6/10 cases,60.00％).But children over 3 years old mainly showed acquired renal diseases (37/76 cases,48.7％),and pathologic classification of glomerular disease were proliferative mesangial glomerulonephritis (6/23 cases,26.09％),focal segmental glomerulosclerosis (5/23 cases,21.74％) and interstitial nephritis(3/23 cases,13.04％).Conclusions The main etiology of ESRD is glomerular disease and congenital abnormal development of urinary system,therefore,more attention should be paid on the ultrasound screening of the urinary tract in the perinatal period and urine screening in children.There are great significances in reducing the incidence of ESRD and intervening actively the progression to chronic kidney disease.

Clinical and genetic features of X-linked Alport syndrome in men positive for the collagen Ⅳ α5 chain in epidermal basement membrane / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical and genetic features of X-linked Alport syndrome (XLAS) in men positive for the collagen α5(Ⅳ) chain in epidermal basement membrane.</p><p><b>METHOD</b>This was a retrospective study. Totally 725 families were diagnosed as Alport syndrome in Department of Pediatrics of Peking University First Hospital during January 1998 to December 2014, among them 450 patients were males with XLAS. Patients who met both of the following two criteria were included in this study. (1)Patients underwent α5(Ⅳ) chain staining in the epidermal basement membrane. (2)Mutations in COL4A5 gene were detected.Mann-Whitney test and χ(2) test were used.</p><p><b>RESULT</b>Totally 140 males with XLAS were included in this study, 18 cases were α5 (Ⅳ)-positive and 122 cases were α5 (Ⅳ)-negative. The two groups of patients were compared, the median age at analysis was 11.0 vs. 7.2 years (Z = -1.839, P = 0.066), the 24-hour urine protein was 1.50 vs. 0.57 g/d (Z = -1.212, P = 0.226), the rate of hearing loss was 28% vs. 53% (χ(2) = 3.619, P = 0.067), the number of patients progressed to end stage renal disease (ESRD) was 4 vs. 12 (χ(2) =2.377, P = 0.128), the median age of ESRD was 31.0 vs. 16.6 years (Z = -2.554, P = 0.011), the rate of missense mutations in COL4A5 gene was 67% vs. 52% (χ(2) = 1.424, P = 0.313).</p><p><b>CONCLUSION</b>Compared the two groups of patients with positive and negative staining for the collagen Ⅳ α5 chain in epidermal basement membrane, there was no significant difference in the proteinuria level, the rate of hearing loss and genotype of COL4A5 gene. But the patients with positive staining progressed to ESRD significantly later than the patients with negative staining.</p>

Introduction of European Association of Urology/European Society for Paediatric Urology guidelines on urina-ry tract infection in children / 中华实用儿科临床杂志

Urinary tract infection(UTI)is common in children. Among the children with UTI,some children at high risk will develop renal scarring that may lead to end stage renal disease. Accurate diagnosis and appropriate treat-ment is very important. However,controversy on diagnosis and treatment of UTI still exists. European Association of Urology/ European Society for Paediatric Urology delivered new guideline for diagnosis and treatment of children with UTI in 2015.

Analysis of clinical pathology of the IgA nephropathy and purpura nephritis in children from the perspective of IgA vasculitis / 临床儿科杂志

Objectives To analysis clinical pathology of organ speciifc IgA vasculitis (IgA nephropathy) and systemic IgA vasculitis (allergic purpura) of purpura nephritis in children. Methods Clinical and pathological data of hospitalized pediatric patients of IgA nephropathy and purpura nephritis were retrospectively analyzed from June 1993 to November 2014. Results There were 405 patients of IgA nephropathy (256 males and 149 females). The ratio of male to female was 1.7:1. The average age was 10.2±2.8 years. The nephrotic syndrome (31.6%) was the most common clinical type, followed by hematuria and proteinuria (27.9%). There were 548 patients of purpura nephritis, 329 males and 219 females. The ratio of male to female was 1.5:1. The average age was 10.2±3.1 years. The hematuria and proteinuria (61.6%) was the most common clinical type, followed by nephrotic syndrome (21.4%). None of the IgA nephropathy progressed to systemic vasculitis (allergic purpura). Conclusions The causes, onset ages and clinical manifestations of IgA nephropathy and allergic purpura may be consistent or overlap, but none of IgA nephropathy (organ speciifcity IgA vasculitis) progressed to allergic purpura (systemic IgA vasculi-tis). IgA nephropathy might have more renal immune disorder mechanisms involved in its pathogenesis.

Clinical characteristies of atypical hemolytie uremic syndrome associated with H factor antibody in children / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical characteristics, renal pathology, treatment and prognosis of children with atypical hemolytic uremic syndrome associated with H factor antibody.</p><p><b>METHOD</b>Four children less than 18 yr of age admitted from Nov. 2010 to May 2011 in Peking University First Hospital were included. They all met the criteria for atypical hemolytic uremic syndrome and with positive serum anti factor H antibody. They aged from 5 to 11 yr. Data on clinical manifestations, renal pathology, treatment and prognosis were analyzed.</p><p><b>RESULT</b>All of the 4 cases had gastrointestinal symptoms such as vomiting, abdominal pain, or abdominal distension. None of them had diarrhea. Two children had hypertension. One child had episodes of convulsion. One child had history of atypical hemolytic uremic syndrome. All of them had low serum complement C3. Three of them had low serum factor H (38.0, 88.4, 209.4 mg/L). All of them had serum antibody to factor H (1: 7 068, 1: 1 110, 1: 174, and 1: 869). Three of them received renal biopsy, all of them showed thrombotic microangiopathy. All of them were treated with steroid combined with mycophenolate mofetil. Two children received plasma exchange. They were followed up for 8 to 29 months. The renal function became normal and proteinuria relieved in all of them. The serum factor H concentration increased to 405.8, 155.8 and 438.4 mg/L, respectively. The titer of anti factor H antibody decreased to 1: 119, 1: 170, 1: 123, and 1: 674, respectively.</p><p><b>CONCLUSION</b>Gastrointestinal symptom is common in children with atypical hemolytic uremic syndrome associated with H factor antibody. Hypocomplementemia was observed in all of them. Steroid combined with mycophenolate mofetil seemed to be effective for them. The monitoring of serum factor H and antibody to factor H may help diagnosis and treatment.</p>

Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature / 中华儿科杂志

<p><b>OBJECTIVE</b>Neonatal-onset multisystem inflammatory disease (NOMID) is not widely recognized in China. This study aimed to investigate the diagnosis and treatment of NOMID.</p><p><b>METHOD</b>To analyze the clinical characteristics and laboratory results including skin biopsy, gene analysis and serum interleukin 1β of a boy admitted to Peking University First Hospital in November of 2013. Reports on NOMID were searched and the clinical and laboratory characteristics of reported cases were summarized.</p><p><b>RESULT</b>The patient was a 1-year-old boy. He had urticaria since 2 days after birth, and presented with episodes of fever, aseptic meningitis, symptoms of joints, short statue, hearing loss, abnormal fundus findings, and leucocytosis, high level of c-reactive protein (CRP) and abnormal findings of head MRI including ventriculomegaly and white matter dysplasia. Urticaria was confirmed by skin biopsy. Gene analysis showed T1702T/A in exon 4 of NLRP3 gene, which causes Phe568lle. Serum interleukin 1β increased dramatically. The boy was diagnosed as NOMID. He did not respond to antibiotic therapy and anti-allergy therapy. Corticosteroid therapy induced normalization of body temperature, and alleviation of rash, but not improvement in cerebrospinal fluid cell numbers. After searching reports of NOMID at PubMed, and Chinese literature published before November 2013, we summarized cases from 8 reports and reviewed 148 cases. The results showed that fever, urticaria, meningitis and arthropathy are the most common manifestations of NOMID, only 57% (69/122) of patients had mutation of NLRP3.</p><p><b>CONCLUSION</b>This is a rare report of NOMID in children in China. Fever, urticaria, aseptic meningitis and persistently high level of CRP are characteristics of NOMID. Gene analysis and serum interleukin-1β detection can aid in diagnosis.</p>

Retrospective clinical features and renal pathological analysis of 15 children with anti-neutrophil cytoplasmic antibody-associated vasculitis / 中华儿科杂志

<p><b>OBJECTIVE</b>Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a disorder with poor prognosis. This study aimed to improve the diagnosis and treatment of ANCA associated vasculitis of children, to analyze the clinical features, pathological characteristics and the prognosis of children with ANCA-associated vasculitis.</p><p><b>METHOD</b>Fifteen children with ANCA associated vasculitis who were hospitalized from 2003 to 2012 in our hospital were included. Their data of pre-diagnosis status, clinical manifestations, renal pathology, treatment and prognosis were reviewed retrospectively.</p><p><b>RESULT</b>Of the 15 children, 11 were girls and 4 boys with a mean age of 10.7 years. Fourteen children were categorized as microscopic polyangitis. The time to diagnosis varied from 0.5 month to 40 months. Hematuria and proteinuria were revealed by urine analysis in all of them, only 6 children complained with gross hematuria or edema of oliguria. Decreased glomerular filtration rate was revealed in 13 children, 8 of whom had a creatinine clearance rate of less than 15 ml/(min·1.73 m(2)). Twelve children underwent renal biopsy, crescent formation was found in 11 children. Most of the crescents were cellular fibrous crescents or fibrous crescents. Six children were diagnosed as crescentic nephritis; the process of rapidly progressive nephritis was only observed in 2 children. Segmental glomerulosclerosis or global glomerulosclerosis were found in 10 children, 3 of them were diagnosed as sclerotic glomerulonephritis. Anemia and pulmonary injury were the most common extra renal manifestations. Other extra renal manifestations included rash, pain joint, gastrointestinal symptoms, abnormal findings of cardiac ultrasonography and headache. Eight children were treated with steroid combined with cyclophosphamide, 4 were treated with steroid and mycophenolate mofetil, 2 were treated with steroid, cyclophosphamide and mycophenolate mofetil, 3 children were treated with plasma exchange. Fourteen children were followed up for 0.5 month to 4 years. The renal function did not recover in children with creatinine clearance rate of less than 30 ml/(min·1.73 m(2)), who showed crescentic glomerulonephritis or sclerotic glomerulonephritis. The children who had creatinine clearance rate of more than 30 ml/(min·1.73 m(2))had better prognosis.</p><p><b>CONCLUSION</b>More attention should be paid to ANCA-associated vasculitis among school age girls with anemia or pulmonary diseases. The renal damage was serious in children; however, the clinical manifestations were not obvious. Children with a creatinine clearance rate of less than 30 ml/(min·1.73 m(2)) had poor prognosis. Early accurate diagnosis is very important.</p>

Characteristics of pediatric C3 glomerulopathy with decreased factor H in 3 cases / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the characteristics of clinicopathology and prognosis of 3 pediatric cases diagnosed as C3 glomerulopathy, and to improve the understanding of C3 glomerulopathy in children.</p><p><b>METHOD</b>The medical record, plasma complement C3, Factor H (FH) and its autoantibody, and therapeutic response of the 3 cases were analyzed, and their prognosis were followed up.</p><p><b>RESULT</b>Of the 3 cases, 2 were male and 1 was female, the age of onset was 9 years, 12 years, 5 years 4 months, the duration from onset to renal biopsy was 3 months, 7 months and 20 days, and the follow-up period were 2.6 years, 8 months and 1.5 years respectively.</p><p><b>CLINICAL MANIFESTATIONS</b>All the 3 cases showed microscopic hematuria, with or without gross hematuria and proteinuria. Two showed persistently decreased plasma complement C3, in the other one C3 was in normal lower limit, all presented with decreased FH concertration, in 1 case anti-FH antibody was positive. Their clinical diagnosis was post-streptococcal glomerulonephritis, nephrotic syndrome (NS) nephritis type, and mesangial proliferative glomerulonephritis respectively.</p><p><b>PATHOLOGICAL FINDINGS</b>All showed evident deposition of C3 on glomerular basement membrance (GBM) and mesangial region by immunofluorescence (IF) and electron dense deposit in GBM, mesangial region or para-mesangial region by Electron microscopic (EM) examination Treatment and prognosis: The case with NS showed no response to steroid, so steroid was gradually stopped after renal biopsy and replaced by angiotensin converting enzyme inhibitors (ACEI) and angiotensin receptor antagonist (ARB). The other two cases were treated with ACEI and renal protective treatment. Of the 3 cases, one gradually showed elevated serum creatinine (Scr) and decreased creatinine clearance rate (Ccr), the other two were normal, but slightly increased indications for early kidney injury.</p><p><b>CONCLUSION</b>C3 glomerulopathy is characterized by evident C3 deposition under IF. Its clinical and pathological manifestations vary a lot. The decreased plasma C3 and FH suggest that the abnormal regulation of complement system play an importment role in its pathogenesis.</p>

Association between podocytes and proteinuria in Alport syndrome / 中华肾脏病杂志

Objective To investigate the association between podocytes and proteinuria in children with Alport syndrome. Methods Twenty-one children including 13 boys and 8 girls with Alport syndrome were divided into 3 groups according to 24-hour urinary protein, ＜30 mg/kgas the mild proteinuria group (10 patients), 30 to 50 mg/kg as the moderate proteinuria group (4 patients) and ＞50 wg/kg as the heavy proteinuria group (7 patients). The correlation between foot process width and the degree of proteinuria was analyzed. By immunoperoxidase staining on renal tissue, the key slit diaphragm molecules nephrin, podocin and podocyte cytoskeleton-associated molecule synaptopodin were studied. Results The foot process width (420-2270 nm) in patients with Alport syndrome was positively correlated with proteinuria significantly (r=0.765, P＜0.01).Foot process width was significantly lower in patients with mild proteinuria [475 (420-900) nm)compared with that in patients with heavy proteinuria [1520 (480-2270) nm] (P＜0.05). In Alport syndrome children with heavy proteinuria, the distribution of nephrin and podocin changed dramatically. In two children with shorter proteinuria period (1 year), dramatic distribution change of nephrin and podocin occurred, however, the foot process along with synaptopodin preserved.Conclusions Podocyte foot process effacement and injury of slit diaphragm participate in the mechanism of proteinuria in Alport syndrome. The injury of slit diaphragm seems to be an early event in the development of foot process effacement in Alport syndrome, which may guarantee early treatment.