Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations / 中国当代儿科杂志

OBJECTIVES@#To improve the understanding of the clinical phenotypes and genetic characteristics of nephronophthisis (NPHP) and related syndromes in children.@*METHODS@#A retrospective analysis was performed on the medical data of eight children with NPHP and related syndromes who were diagnosed and treated in the Department of Pediatrics of the Second Hospital of Hebei Medical University, from January 2018 to November 2022. The clinical characteristics and genetic testing results were analyzed.@*RESULTS@#Among these eight children, there were five boys and three girls, with an age of onset ranging from 15 months to 12 years. All 8 children exhibited different degrees of renal function abnormalities when they attended the hospital. Among the eight children, two had the initial symptom of delayed development, two had the initial symptom of anemia, and two were found to have abnormal renal function during physical examination. The extrarenal manifestations included cardiovascular abnormalities in two children, skeletal dysplasia in two children, liver dysfunction in one child, retinitis pigmentosa in one child, and visceral translocation in one child. All eight children had renal structural changes on ultrasound, and four children had mild to moderate proteinuria based on routine urine test. Of all eight children, five had NPHP1 gene mutations and one each had a gene mutation in the NPHP3, IFT140, and TTC21B genes, and four new mutation sites were discovered.@*CONCLUSIONS@#Children with NPHP and related syndromes often have the initial symptom of delayed development or anemia, and some children also have extrarenal manifestations. NPHP and related syndromes should be considered for children with unexplained renal dysfunction, and high-throughput sequencing may help to make a confirmed diagnosis.

Association between autophagy and systemic juvenile idiopathic arthritis and related mechanism: a preliminary study / 中国当代儿科杂志

OBJECTIVE@#To study the role of autophagy in the development of systemic juvenile idiopathic arthritis (sJIA) by analyzing the expression of microtubule-associated protein 1 light chain 3-II (LC3-II), myeloid differentiation factor 88 (MyD88), and suppressor of T-cell receptor signaling 1 (STS-1) in peripheral blood lymphocytes of children with sJIA.@*METHODS@#A total of 26 children with sJIA were enrolled as the sJIA group, and 26 healthy children were enrolled as the control group. Western blot was used to measure the protein expression of LC3-II, STS-1, and MyD88 in peripheral blood lymphocytes. Immunofluorescence assay was used to measure the expression of LC3-II in the cytoplasm of lymphocytes. Pearson correlation analysis was used to assess the correlation between indices.@*RESULTS@#Compared with the control group, the sJIA group had significant increases in the expression of LC3-II, STS-1, and MyD88 (P<0.05). In the sJIA group, the expression of LC3-II was positively correlated with that of MyD88 (r=0.478, P<0.05), and the expression of STS-1 was also positively correlated with that of MyD88 (r=0.817, P<0.05).@*CONCLUSIONS@#There is high expression of LC3-II in peripheral blood lymphocytes of children with sJIA, suggesting that the development of sJIA may be associated with excessive expression of autophagy. STS-1 may induce autophagy by activating some signaling pathways, and MyD88 may participate in autophagy through the Toll-like receptor signaling pathway.

Preventive effect of integrative medical therapy on children Henoch-Schonleln purpura with renal impairment / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe the clinical effect of integrative medicinal therapy in treating children Henoch-Schonlein purpura (HSP) and its preventive effect on complicated renal impairment.</p><p><b>METHODS</b>One hundred and twenty children with HSP were equally randomized into two groups, the treated group and the control group. Both were treated with conventional Western medical therapy, but Sanhuang Qingxue Yin (SQY, a Chinese herbal drug) was given additionally to the treated group. Besides, a group consisted of 30 healthy children was set up as a normal control. Changes of symptoms, physical signs, routine urine, plasma endothelin-1 (ET-1) and urinary levels of beta2-microglobulin (beta2-MG), albumin (ALB) and immunoglobulin G (IgG) before and after treatment were observed, and the recurrence was monitored.</p><p><b>RESULTS</b>The cure rate and the total effective rate in the treated group were 80.0% and 98.3%, while those in the control group were 61.7% and 88.3%, showing significant differences between groups (P < 0.05); the disappearance time of clinical symptoms was shorter in the treated group than in the control group, also showing a significant difference (P < 0.01); after 1-month treatment, levels of plasma ET-1, and urinary beta2-MG, ALB and IgG were improved in the treated group, reaching the levels opproximate to those in the normal control (P > 0.05), significant difference was shown as compared with those in the control group and with those before treatment respectively (P < 0.01, P < 0.05). The recurrent rate was 13.33% in the treated group and 30.0% in the control group, and they were statistically different (P < 0.05).</p><p><b>CONCLUSION</b>The integrative medicinal therapy is good for treating HSP in children, it could not only obviously relieve clinical symptoms, shorten the illness course and reduce the recurrent rate, but also effectively prevent the occurrence of renal impairment.</p>

Changes of Transforming Growth Factor-?_1 and Vascular Endothelial Growth Factor in Children with Primary Nephrotic Syndrome / 实用儿科临床杂志

Objective To investigate the change of serum transforming growth factor(TGF)-?1 and vascular endothelial growth facter( VEGF) in children with different types of primary nephrotic syndrome( PNS). Methods Children involved in the experiments were divided into simple type group, 16 cases; nephrit was type group, 16 cases, collecting blood sample in prednison - pretreated stage and in prednison- treated stage;control group, 14 cases. Monoclonal EUISA detected TGF-?1 and VEGF. Results Serum level of TGF-?1 and VKGF in active stage of simple type were higher than those of remission stage. The level in nephritis type was no signifi cant difference between prednison- treated stage and prednison - pretreated stage. The level in nephritis type was significantly higher than that in simple type. Conclusion Monitoring the dynamic change of serum TGF-?1 and VEGF can assess the effect of prednison treatment,and evaluate the prognosis of nephrotic syndrome.