目的 探讨儿童肺炎链球菌相关溶血尿毒综合征的临床特点及治疗方法。 方法 回顾性分析2例儿童肺炎链球菌相关溶血尿毒综合征病例的临床表现、影像学及实验室检查结果、治疗经验及随访情况。 结果 2例患儿均为3岁男孩，肺炎合并胸腔积液，胸腔积液培养及痰培养结果为肺炎链球菌，均经T抗体阴性血浆置换治疗，病情迅速好转，血小板在1周内恢复，血肌酐分别在2周、3周恢复至基线值，目前分别随访2周和2个月，病情稳定，无肾损害表现。 结论 儿童重症肺炎合并胸腔积液出现急性溶血性贫血、血小板下降、急性肾衰竭、Coombs′试验阳性，应警惕肺炎链球菌相关溶血尿毒综合征，采用T抗体阴性血浆置换治疗肺炎链球菌相关溶血尿毒综合征，疗效显著，近期预后良好。

Objective Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited renal cystic disease involving multiple organs. It is caused by mutations in the PKHD1 gene. Here, we investigate the gene mutations in a family affected by ARPKD. Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from the subjects, by means of targeted gene capture and next generation sequencing technologies for mutation screening, and were confirmed by Sanger sequencing. Results Two heterozygous mutations of PKHD1 , c.6890T>C (p.Ile2297Thr) and c.11215C>T (p.Arg3739Trp), located in exons 43 and 62, respectively, were identified in the patient. Furthermore, the father and mother were revealed to be carriers of heterozygous c.6890T>C (p.Ile2297Thr) and c.11215C>T (p.Arg3739Trp) mutations, respectively. Mutation of c.11215C>T (p.Arg3739Trp) has been found in the ARPKD Mutation Database ( http://www.humgen.rwth-aachen.de ) but mutation of c.6890T>C (p.Ile2297Thr) has not been reported. Conclusions Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis of ARPKD in this patient. The newly identified c.6890T>C (p.Ile2297Thr) mutation in the patient expands the mutation spectrum of the PKHD1 gene. Targeted gene capture and next generation sequencing are suitable for genetic diagnosis of single-gene inherited diseases like ARPKD, in which the pathogenic gene is large.

To observe the expression of neuropilin-1 (NRP-1) induced by paired-box gene 2 (PAX2) during the process of epithelial-to-mesenchymal transition (EMT) and renal fibrosis in unilateral ureteral obstruction (UUO) model in rats, and explore the mechanism of EMT induced by PAX2. Methods: The recombinant lentivirus expression vector for PAX2 was constructed and transfected into rat normal renal tubular epithelial cell line (NRK52E). The experimental cells were divided into three groups: transfection group, empty vector group, and normal group. E-cadherin and α-SMA were detected by western blot and real-time PCR. Expression of NRP-1 was detected by western blot, real-time PCR, and immunofluorescence. Sixty male Wistar rats were randomly divided into two groups: the sham-operation group (n=30) underwent left ureteral dissection, the UUO group (n=30) underwent left ureteral ligation. Post-operation on days 3, 7, 14, 21 and 28, 6 rats from each of the groups were sacrificed and the obstructed kidneys were dissected out. The histopathological changes were observed by hematoxylin-eosin and Masson staining. E-cadherin and α-SMA were detected by western blot and immunohistochemistry. Expression of NRP-1 and PAX2 were determined by western blot, immunohistochemistry, and real-time PCR. Results: Expression of NRP-1 mRNA and protein and α-SMA protein increased (P<0.05) while E-cadherin protein expression decreased (P<0.05) in the transfection group as compared to the empty vector group in vitro. In the UUO group, fibrosis was obvious, and there was decreased expression of E-cadherin protein (P<0.05) and increased expression of α-SMA protein and NRP-1 mRNA and protein (P<0.05) in comparison to the sham group. Conclusion: NRP-1 maybe mediate PAX2-induced EMT in renal tubular epithelial cells and renal fibrosis.

Objectives: The database on cadmium (Cd) concentration in children is limited, especially in China. The present study aimed at evaluating the body burden of Cd and to propose reference values for urine Cd in young children, who lived in areas with no point sources of metal exposure. Methods: Overall, 1170 children aged from 1 month to 17 years old were enrolled in the study. A questionnaire was used to obtain essential information about age, gender, etc. Urine samples were collected to determine urinary Cd and urine creatinine. Results: A total of 1070 children, 544 males and 526 females, were included in the analysis. Based upon their age, the population was divided to three age groups (0 to 5 years, 6 to 11 years, and 12 to 17 years). The reference value of urinary Cd for children without disease and Cd exposure was as follows: 0 to 5 years < 0.56 mu g/L, 6 to 11 years < 0.65 mu g/L, and 12 to 17 years < 0.74 mu g/L. The reference value of urinary Cd adjusted by urine specific gravity was as follows: 0 to 5 years < 0.83 mu g/L, 6 to 11 years < 0.01 mu g/L, and 12 to 17 years < 1.15 mu g/L. The reference value of urinary Cd corrected by urinary creatinine was as follows: 0 to 5 years < 2.17 mu g/L, 6 to 11 years < 1.23 mu g/L, and 12 to 17 years < 1.25 mu g/L. Conclusions: In this study, we determined urine cadmium levels in children from non-polluted areas in china. The reference intervals could be used to offer recommendations for clinical work.

Objective To explore the application of urodynamics in the diagnosis and treatment of nonmonosymp-tomatic nocturnal enuresis(NMNE)in children,and to provide some evidence for its clinical treatment. Methods Patients who were clinically diagnosed as NMNE at Department of Pediatrics Kidney Rheumatism and Pediatric Urology of Shengjing Hospital of China Medical University from January 2015 to August 2016 were collected. Sixty - six children with NMNE were included in the urodynamic study,and the different treatments were selected according to the results of the urodynamics and the efficacy was evaluated. Results The urodynamic results of 61 patients(92. 43％)were abnor-mal,and 5 cases(7. 57％)had no abnormalities. There were 35 cases with overactive bladder(OAB)in abnormal re-sults,with a remarkable decrease in bladder pressure capacity in 7 cases,detrusorsphincter discoordination(DSD)in 1 case,and OAB with other abnormal results in 18 cases. OAB was found in 53 cases,and the detection rate was 86. 89％(53 / 61 cases),accounting for 80. 3％(53 / 66 cases)of the total samples. The desmopressin acetate combined with Tolterodine tartrate was used to treat OAB patients,and its total effective rate was 94. 34％(50 / 53 cases). The biofeed-back treatment had effect on DSD child. The patients with a marked decrease in bladder pressure capacity and with the normal urodynamics received desmopressin acetate joint behavior training treatment,and the efficiency of the therapy was 71. 43％(5 / 7 cases)and 80. 00％(4 / 5 cases),respectively. Conclusions The urodynamics study can uncover the pathophysiological mechanism of NMNE,so this examination is essential for NMNE children to improve the treat-ment. Since the rate of OAB in NMNE is very high,it is suggested that anticholinergic medications combined with desmopressin can be used in the initial treatment of the NMNE patients to improve the rate of cure and prognosis.

Objective To explore the therapeutic effects and side effects of mycophemelate mofeil (MMF)or cyclophosphamide for the children Henoch-Schnlein purpura nephritis(HSPN)with nephrotic syndrome. Methods Sixty-five children who suffered from HSPN with nephrotic-range proteinuria and hematuria or with only nephrotic-range proteinuria were given intravenous administration of pulse methylprednisolone firstly twice,who did not respond to the treatment were enrolled. These patients were randomly divided into two groups. Forty patients were treated with oral intake of MMF (MMF group)15～25 mg·kg-1·d-1 for 6months,then gradually withdrawn at the 12th month. Other twenty-five patients were treated with intravenous pulse administration of cyclophosphamide (CTX group,10～15 mg·kg-1·d-1,2 days)once every two weeks for 12 weeks,then once every three months for 9 months. Clinical assessment,24-hour urinary protein,creatinine clearance (CCr),liver function,total cholesterol,triglyceride and side effect were performed at the 1st,3rd,6th,9th and 12th month. Results The amount of 24-hour urinary protein was much lower in the children with MMF after 3 and 12 months treatment(1.8±1.6,0.3±0.5)than that of CTX(2.5±1.7,1.3±1.4)group(P 0.05). The levels of serum total cholesterol and triglyceride were significantly decreased in the children with MMF after 6,9,12 months treatment compared with pretreatment (P 0.05),but those were not changed in the children with CTX treatment compared with pretreatment (P 0.05). CCr was not changed in these two groups compared with pretreatment. After 12 months treatment,the complete remission rate and the effective rate of MMF group were 94% and 100%,much higher than those of CTX group(P 0.05). The side effects of MMF were much weak. The side effects of CTX included the decreased white blood cells and vomitting. Conclusion The therapeutic effects of MMF is better than CTX in the children of HSPN with nephrotic syndrome and the side effects of MMF is weaker,which is a new method to treat the patients with HSPN.

目的探讨儿童溶血尿毒综合征(HUS)患儿的临床特点,观察血浆置换在儿童HUS中的治疗效果和随访。方法研究对象为2001年1月至2007年11月在中国医科大学附属盛京医院儿肾科住院的9例HUS患儿,分析其首发症状和实验室检查,药物治疗经过,血浆置换或联合血液透析治疗的效果,病情好转后口服糖皮质激素治疗的转归及随访(0.5～6年)结果。结果腹泻相关的HUS(D+)和非典型HUS(D-)患儿临床特点和实验室检查无明显差异;在综合药物治疗不能缓解病情时应早期进行血浆置换,一般置换1次可以阻止病情进展,重症增加1次并联合血液透析可取得较好疗效;序贯口服糖皮质激素有助于降低尿蛋白,促进肾脏损伤的恢复。随访中1例出现蛋白尿,重复肾活检出现肾小管间质损伤和免疫物质增多;1例出现高血压。结论血浆置换治疗小儿HUS临床疗效显著,序贯口服糖皮质激素有助于降低尿蛋白,HUS患儿的长期随访需引起儿肾科医生的关注。