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Objective:To summarize the clinical features, genetic testing and treatment efficacy of 6 children with Dent disease.Methods:Six children diagnosed with Dent disease in Guangzhou Women and Children′s Medical Center from January 2014 to March 2019 were enrolled.Their medical history, clinical manifestations, laboratory results, genetic test results, and proteinuria level, calciuria level and renal function after medication were measured.Results:All patients were male, with the onset age ranged from 1 to 9 years old.They were followed up for 6 months to 4 years.All the children had low molecular weight proteinuria.Urine protein electrophoresis showed that the ratio of low molecular weight proteinuria in only 2 cases was more than 50%.Renal biopsy suggested that all cases were combined with glomerular lesions.Five cases had hypercalciuria.Under the microscope, there were 5 cases of hematuria.Two case had rickets, and there was no renal calcium deposition and hypophosphatemia.Five cases were detected with CLCN5 mutations, of which p. C160Yfs*49 and p. G523D were first reported.One case had an OCRL1 mutation.Patients were treated with Hydrochlorothiazide and angiotensin converting enzyme inhibitor (ACEI). The 24 h urinary calcium level after treatment was lower than that before treatment [0.40 (0.24, 0.43) mmol/kg vs.0.12 (0.11, 0.14) mmol/kg, U=2.00, P<0.01]. However, there was no significant decrease in the 24 h-urinary protein level before and after treatment [77.09 (62.41, 88.01) mg/kg vs.80.33 (66.03, 92.52) mg/kg, U=12.00, P>0.05]. Conclusions:Dent disease is mainly characterized by low molecular weight proteinuria, and some patients may not be associated with hypercalciuria.Gene tests help to identify the disease type.ACEI and Hydrochlorothiazide can reduce the urinary calcium level, but cannot improve the level of urinary protein.
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Objective To analyze the long-term prognosis and prognostic factors of idiopathic collapsing focal segmental glomerulosclerosis (FSGS) and not otherwise specified FSGS in children. Methods The clinical, pathology and follow-up data of patients with idiopathic collapsing FSGS and not otherwise specified FSGS were analyzed retrospectively by Kaplan-Meier method, univariate and multivariate Cox regression analysis. Results A total of 64 patients (29 idiopathic collapsing FSGS and 35 not otherwise specified FSGS) were diagnosed by renal biopsy. The 4-year renal survival rate of idiopathic collapsing FSGS and not otherwise specified FSGS were 48.3%, 74.3% respectively. Univariate analysis revealed that the renal survival time were 25.41±3.28 months in idiopathic collapsing patients, and 35.53±2.73 months in not otherwise specified patients. The different is significant (χ2=4.07,P=0.044). Multivariate Cox regression analysis showed that poor treatment response (HR=5.92, P<0.05) and renal insufficiency at early stage (HR=2.45, P<0.05) were independent risk factors of prognosis. Conclusions Compared with patients with not otherwise specified FSGS, the renal survival time is shorter in idiopathic collapsing FSGS patients. Patients with renal insufficiency and poor response to treatment have poorer prognosis.
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MicroRNA (miRNA) are a class of small,non-coding,measuring 21-25 nucleotides in length RNA,which regulates protein levels post-transcriptionally through binding to 3'-untranslated region of target mRNA.miRNA involves in many physiological and pathological processes.Studies demonstrate that miRNA presents not only intracellular,but also in circulation and body fluids,e.g.urine,tear,ascetic fluid,and amniotic fluid,and these miRNA have become a novel biomarker and potential target of treatment,especially the serum miRNA.This review summarizes the recent advances of serum miRNA.