[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations]. / ä¸åŒåŸºå› çªå˜è‡´è‚¾å•ä½è‚¾ç—¨åŠç›¸å ³ç»¼åˆå¾æ‚£å„¿ä¸´åºŠè¡¨åž‹ç‰¹ç‚¹åŠåŸºå› åˆ†æž.

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.

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report.

Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype. Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome by laboratory tests, muscle biopsies, and genetic analysis. We used this information to summarize all the mutation sites reported in the literature. We also reviewed the clinical features of published cases with a gain of function mutations of STIM1. Results: A 12-year-old Chinese female presented with skin purpura in the lower limbs and stroke-like episodes. Muscle biopsy and microscopic examination revealed atrophy in her skeletal muscle. Genetic analysis identified a novel heterozygous missense mutation, a c.1095G>C transition (NM_003156.3), which caused a p.K365N amino acid substitution in the protein and affected a STIM1-orai1-activation region (SOAR). Conclusions: The novel variant c.1095G>C transition (NM_003156.3) was located in the SOAR, which expands the phenotypic spectrum of STIM1 variants in human disorders and may define the molecular basis of Stormorken syndrome.

[Association between autophagy and systemic juvenile idiopathic arthritis and related mechanism: a preliminary study].

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].

OBJECTIVE: To observe the clinical effect of integrative medicinal therapy in treating children Henoch-Schonlein purpura (HSP) and its preventive effect on complicated renal impairment. METHODS: 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. RESULTS: 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). CONCLUSION: 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.