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Objective:To summarize the clinical features and gene phenotype of children with spondyloenchondrodysplasia with immune dysregulation (SPENCDI) caused by ACP5 gene mutation. Methods:The medical data and genetic phenotype of a child diagnosed with SPENCDI in the Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University in February 23, 2017 were analyzed retrospectively.Besides, " spondyloenchondrodysplasia" were taken as the search terms to perform the retrieval in CNKI, Wanfang Data, and PubMed, in an attempt to conduct the literature review.χ 2 test was used to compare the factors among children with different mutations. Results:The 4.5-year-old girl was admitted to hospital for complaint of " fever and chilblain-like rash" when she was 2 years old.She was diagnosed with systemic lupus erythematosus (SLE) concomitant with lupus nephritis.Methylprednisolone combined with cyclophosphamide, mycophenolate mofetil was used for the treatment.However, she experienced multiple infections, thrombocytopenia, limp, and growth retardation during the treatment.Genetic detection identified ACP5 gene compound hybrid mutation: c.779C>A and c. 770T>C.She was diagnosed with SPENCDI, and was subjected to follow-up.A total of 78 SPENCDI patients were retrieved from the databases, with various clinical manifestations of SPENCDI, commonly with skeletal involvement and immune phenotypes; 73.08% of the cases were positive for antinuclear antibodies, 57.69% of cases were positive for anti-double stranded-DNA antibodies and 34.62% of cases had neurological symptoms.In 58 cases, ACP5 gene mutations were detected, including 44 homozygous mutations and 14 compound heterozygous mutations.Patients with ACP5 gene homozygous mutation had a higher probability of consanguineous marriage in parents [56.82% (25/44 cases) vs.14.29% (2/14 cases)]; patients with ACP5 gene heterozygous mutation were more likely to develop SLE [64.29% (9/14 cases) vs.34.09% (15/44 cases)]( χ2=7.722, 3.992; all P<0.05). Conclusions:The majority of the ACP5 gene mutations are homozygous mutations in patients with SPENCDI, and heterozygous mutations are rare.The clinical manifestations of SPENCDI are various and complex, it is prone to develop autoimmune diseases, and there was no clear correlation between clinical features and gene phenotype in SPENCDI patients.
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Objective:To investigate the clinicopathological features, treatment and short-term prognosis of diffuse endocapillary proliferative Henoch-Schonlein purpura nephritis (DEP-HSPN) in children.Methods:Clinicopathological data of children with DEP-HSPN diagnosed by renal biopsy in the First Affiliated Hospital of Zhengzhou University from January 2012 to December 2019 were retrospectively analyzed.Children with HSPN with segmental endocapillary proliferation (non DEP-HSPN) and matched with the gender, age and pathological grade at the ratio of 1∶2 in the same period were recruited as controls.Results:(1) A total of 42 cases of DEP-HSPN were pathologically confirmed, accounting for 5.9% of the 712 children with HSPN during the same period.Thirty-nine newly treated cases were included, with the mean age of (8.9±3.2) years old, and the gender ratio was 1.79∶1.00.There were 21 cases of nephrotic syndrome, 14 cases of hematuria and albuminuria, 2 cases of acute glomerulonephritis, 1 case of rapid progressive nephritis and 1 case of isolated proteinuria.Pathological findings were accompanied by diffuse prolife-ration of mesangial and endocapillary.There were 13, 22 and 4 cases with pathological gradeⅡb, Ⅲb and Ⅳb, respectively.(2) Compared with non DEP-HSPN subjects, DEP-HSPN patients had a shorter course from renal symptoms to renal biopsy, and a higher incidence of nephrotic albuminuria, hypoalbuminemia, hypocomplementemia, hypertension and anemia.The main clinical type was nephrotic syndrome.The levels of D-dimer, 24-hour urinary protein (24 h UP) and urea nitrogen were significantly higher in DEP-HSPN group ( Z=-2.416, -2.595, -2.019, all P<0.05), while the red blood cells, hemoglobin, serum albumin, C 3 and glomerular filtration rate (eGFR) were significantly lower ( t=-2.499, -3.746, 2.836, -3.410, 3.236, all P<0.05). Besides, the glomerular C 3 deposition was higher than those in non DEP-HSPN subjects ( Z=-1.977, P<0.05). (3)The urinary protein remission rate in DEP-HSPN group was significantly reduced at 1 month follow-up [37.0%(10/27 cases) vs.62.5%(40/64 cases), P<0.05]. There was no significant difference between the 2 groups at 3 months, and the urinary protein remission was relieved at 6 months in both groups.There was no significant difference in hematuria remission between the 2 groups at the end of follow-up. Conclusions:Clinical manifestation of DEP-HSPN is severe, which is easy to be complicated with hypertension, anemia, hypocomplementemia C 3 and so on, and the hypercoagulable state is obvious.The degree of glomerular complement C 3 deposition was high in DEP-HSPN group.Urinary protein can be relieved slowly within 1 month after active treatment, but can be relieved at 6 months.
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Laryngopharyngeal reflux is an independent disease that affects the quality of life in children,but its pathogenesis is not clear and its diagnostic criteria is not unified.With the reports of laryngopharyngeal reflux continuing to emerge in recent years,this study aims to review the progress in pathogenesis,diagnosis and treatment of laryngopharyngeal reflux in children.
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Objective To investigate the risk factors for occult pneumonia(OP) in children with primary nephrotic syndrome(PNS).Methods The clinical data of 115 children with PNS and findings of chest CT from July 2010 to June 2016 at the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed.Based on the findings of chest CT,the subjects were divided into 2 groups:OP group and unoccult pneumonia (UOP) group.The comparisons were made between 2 groups,including gender,age,season,course of disease before admitting to hospital,formation of ascites,white blood cells,C-reactive protein,erythrocyte sedimentation rate,total protein (TP),albumin (ALB),total cholesterol,immunoglobulin G (IgG),immunoglobulin E,urine N-acetyl-beta-D-glucosaminidase (NAG) and 24 h urinary protein quantity/body weight.The single factor analysis was performed to analyze above indicators between 2 groups,and the indicators which had statistical significance were analyzed by single factor analysis were analyzed by the multifactor Logistic regression.The receiver operator characteristic (ROC) curve was drawn to evaluate the predicting ability of the indicators for PNS combined with OP.Results Among 1 15 cases,68 (59.1％) PNS patients were complicated with OP.The result of single factor analysis indicated that the risk factors were the formation of ascites,TP,ALB,IgG and NAG (all P ＜0.05).The multifactor Logistic regression showed that ascites,TP and ALB were the risk factors for OP in children with PNS(P =0.003,0.004,0.003).The area under curve (AUC) of ALB was 0.709,and the critical value was 18.55 g/L(P =0.000);the AUC of TP was 0.658,and the critical value was 39.15 g/L(P =0.004).Conclusion The incidence rate of PNS combined with OP was high.With the presence of formation of ascites,TP ＜39.15 g/L and ALB ＜ 18.55 g/L,it may indicate OP for the PNS children which require special consideration clinically and earlier chest CT examination.
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Objective To compare the effectiveness,safety and related clinical indicators between simple drainage treatment and drainage treatment combined with intrathoracic urokinase for children with parapneumonic pleural effusion(PPE).Methods Twenty-nine in patients with PPE given pleural effusion drainage in the First Affiliated Hospital of Zhengzhou University from January 2013 to December 2015 were selected as research subjects,who were divided into a simple group and an urokinase group based on whether intrathoracic urokinase was injected or not.The total number of hospital stay,the total drainage volume,the total number of catheter days,the total cost,the days with fever,efficient rate,operation rate and security of the patients were retrospectively analyzed between two groups.Results The intrathoracic days of hospital stay [M(P25,P75)] of urokinase group[19(11,30) days]were less than those of simple group[30(21,38) days],and the difference was significant (Z =-2.545,P =0.011);the total drainage volume[M(P25,P75)] of the urokinase group [430 (175,1 308) mL] was more than that of the simple group [110 (10,325)mL],and the difference was significant (Z =-2.811,P =0.005);the total number of catheter days [M (P25,P75)] of urokinase group [9 (7,19) days] was less than that of the simple group [20 (10,30) days],and the difference was significant (Z =-2.020,P =0.043);the total cost [M(P25,P75)] of the urokinase group [20 000(10 000,30 000)RMB] was less than that of the simple group [40 000 (30 000,50 000) RMB],and the difference was significant (Z =-2.631,P =0.009);the days with fever between urokinase group and the simple group was not significant (Z =-0.820,P =0.412).The urokinase group had a higher cure rate[76.9％ (10/13 cases)] and a lower surgical rate [23.1％ (3/13 cases)] compared with those of the simple group[18.7％ (3/16 cases),81.3％ (3/16 cases)],and the difference was significant (x2 =9.814,P =0.003).Conclusions Intrapleural urokinase therapy as an adjuvant treatment of PPE is simple and convenient,economic,higher efficiency,lower risk,which can be used as an effective clinical solution such disease.
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Objective To discuss the clinical characteristics and prognosis of lipoprotein glomerulopathy (LPG) in chil-dren. Method Clinical data of one pediatric LPG patient were retrospectively analyzed. The clinical features and prognosis of childhood LPG were summarized based on literature review. Results A nine years old girl presented with frequent urination. The ifrst urine test revealed hematuria and proteinuria. After one week anti-infection treatment, the hematuria and proteinuria were continued. The serum albumin was slightly reduced. The hyperlipidemia and mild anemia were emerged. Kidney biopsy showed that enlarged glomeruli, with dilated capillary loops and weak eosinophilic lipoprotein thrombi in the capillary lumina under the light microscope;layered or tuftedemboluscontaining particulated lipid vacuoles under electron microscope. Gene sequencing identified APOE Tokyo (Leu141-Lys143→0). The diagnosis of LPG was confirmed. The lipid-lowering therapy was administrated and the disease was alleviated. Conclusion LPG is a rare disease in children. The level of blood lipid was signiifcantly increased, and the hormone therapy was ineffective. Kidney biopsy is the main basis for diagnosis. The genetic testing can prompt the genetic background. Lipid lowering therapy can relieve the progress of the disease.
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Objective To evaluate the efficacy and safety of intrapleural fibrinolytic agents in the treatment of childhood empyema.Methods The data from China National Knowledge Infrastructure (CNKI),Chinese BioMedical (CBM),PubMed,VIP Database and Cochrane library were reviewed.Randomized control trials by using intrapleural fibrinolytic agents to treat childhood empyema were included.Two reviewers independently extracted the data from the eligible studies and evaluated the quality of the included studies.Meta-analysis was performed for the results of homogeneous studies using RevMan 5.2 software,while others analyzed descriptively.Results Five randomized control trials involving 248 children with empyema were included.Meta-analysis was not made in all of the indexes because of apparent heterogeneity and limited data.Two trials were compared which involved 98 patients receiving fibrinolytic agents or 9 g/L saline.The results suggested that fibrinolytic agents shortened the length of hospital stay and reduced complication(all P ＜ 0.05),but no significant differences were found between the 2 groups in the effective rate,duration of fever and pleural effusion amount(OR =3.61,95％ CI 0.84-15.49,P ＞ 0.05).Three trials involving 150 patients compared fibrinolytic agents and video-assisted thoracoscopic surgery (VATS).The data suggested that no significant differences were found between 2 groups in the effective rate (OR =0.70,95 ％ CI 0.30-0.61,P ＞ 0.05),but fibrinolytic agents cost less (P ＜ 0.05).The adverse drug reactions to intrapleural fibrinolytic agents were mild to moderate,and well tolerated.Conclusions The findings suggest that intrapleural fibrinolytic agents in the treatment of childhood empyema is safe and effective,especially in encapsulated effusion.Compared to 9 g/L saline,it can shorten the length of hospital stay and reduce complication.Compared with VATS,the curative effect is similar,while intrapleural fibrinolytic agents are economic.
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Epigenetics, which is called second genetic code precisely and controls the total metabolic processes of eukaryotic cells,has an inseparable correlation with human health and diseases. Among all the gene silencing mechanisms of epigenetic modifications,CpG islands of DNA promoter hypermethylation/histone mod-ifications are two major causes. Promoter methylation of specific genes,such as Ras protein activator analogue 1 may lead to aberrant activation of downstream signaling pathways,following by fibroblasts proliferation and kid-ney fibrosis. In recent years,epigenetic modifications have been proved to play a major role in preventing fibro-blasts to return to their quiescent stage,ultimately contributing to fibrosis in the kidney. This paper provides a glimpse of recent studies on epigenetic mechanisms of chronic kidney diseases,especially renal fibrosis,with an aim to provide new insights into pathogenesis research and clinical diagnosis and treatment.