Objective To investigate the etiology, clinicopathological changes and genetic variation characteristics of familial juvenile hyperuricemia nephropathy (FJHN) through pedigree investigation and gene test conducted on a patient with FJHN. Methods Clinical data of the proband family members were collected, routine pathological examination of the proband kidney tissue was conducted, and the expression of the Uromodulin (UMOD) protein in the proband kidney tissue was detected by immunofluorescence staining. Peripheral blood specimens of proband and their relatives were collected, and gene sequencing analysis related to urinary system diseases including UMOD was performed by double-stranded DNA probe gene capture and high-throughput sequencing. Results Seven family members in the family were involved and the inheritance method was consistent with autosomal dominant inheritance. Among the seven affected individuals only a 3-year-old child didn't show any clinical abnormalities. All of the remaining six patients had hyperuricemia accompanied with renal dysfunction and three of them were end-stage renal disease and two of them died of uremia. Proband renal pathological results showed chronic tubulointerstitial lesions and focal glomerular sclerosis with no obvious deposition of immune complexes. Immunofluorescent staining showed that strong positive signals of UMOD protein accumulated in the tubular epithelial cells, which was very specific and could be used to differentiate FJHN from other interstial nephritis. A total of four patients including the proband were tested and all had found heterozygous mutation c.377G>A of UMOD gene, a new missense mutation located on exon 3. Conclusion Involved patients in this family present a typical autosomal dominant inheritance pattern, clinically manifested as hyperuricemia with early renal function impairment, renal pathology manifested as non-immune complex-mediated glomerular sclerosis and renal interstitial fibrosis, and there is abnormal accumulation of UMOD protein in renal tubular epithelial cells. Genetic testing shows a new gene locus mutation c.377G>A, confirming the diagnosis of FJHN. Patients with unexplained hyperuricemia and characteristic pathological changes should undergo renal tissue fluorescent staining of UMOD protein, which may be a simple and feasible method to detect the abnormality of UMOD protein.

Objective To observe the risk of acute kidney disease and disorders (AKD) in patients with coronary heart disease or non-valvular atrial fibrillation who were taking rivaroxaban for the first time in our hospital. Methods A retrospective case-control analysis was performed using the hospital database to screen for patients with coronary heart disease or non-valvular atrial fibrillation who were taking rivaroxaban for the first time for more than 3 months during January 1, 2018 to June 30, 2019. A total of 279 patients with serum creatinine reviewed within 3 months were as the rivaroxaban group, and 317 patients with coronary heart disease or non-valvular atrial fibrillation who did not take rivaroxaban during the same period in our hospital were selected as the control group. The general condition and the incidence of AKD were compared between the two groups, and the influencing factors of AKD were analyzed by logistic regression analysis. Results The prothrombin time and international normalized ratio were higher in the rivaroxaban group than those in the control group (both P<0.01). There was no significant difference in age, gender, serum creatinine and urea level between the two groups. The incidence of AKD in the rivaroxaban group was 4.30%(12/279), and the incidence of AKD in the control group was 1.26%(4/317). The relative risk (RR) of the two groups of patients was 3.409. Logistic regression analysis showed that older age (≥75 years old, OR=1.166, 95%CI 1.012-1.343, P=0.033) and diabetes (OR=34.261, 95%CI 1.639-716.326, P=0.023) were risk factors for AKD in patients taking rivaroxaban. Rivaroxaban was a risk factor for AKD in patients with coronary heart disease or non-valvular atrial fibrillation (OR=3.500, 95%CI 1.115-10.988, P=0.032). Conclusions The incidence of AKD in patients taking rivaroxaban for the first time due to coronary heart disease or non-valvular atrial fibrillation was 4.30%. Taking rivaroxaban is a risk factor for AKD in patients with coronary heart disease or non-valvular atrial fibrillation. Older age and diabetes are the risk factors for AKD in the rivaroxaban group.

Objective To investigate the correlation between serum C3 and glomerular microthrombosis in patients with lupus nephritis (LN). Methods Patients who were diagnosed as LN by renal biopsy hospitalized in Department of Nephrology, the First Affiliated Hospital of Shenzhen University from January 2010 to February 2019 were retrospectively analyzed and they were divided into glomerular microthrombosis group (GMT group) and non-glomerular microthrombosis group (non-GMT group). The demographic data, clinical characteristics, pathology and prognosis of the two groups were compared. Logistic regression and smooth curve fitting of generalized additive mixed model analysis were used to explore the correlation between serum C3 and glomerular microthrombosis. Renal prognosis of the two groups were compared by the Kaplan-Meier survival curve. Results A total of 116 patients were enrolled, aged (32.79±11.43) years old, in which 108 cases (93.10%) were female. Thirty-seven patients (31.90%) were confirmed to be combined with GMT (GMT group) and 79 cases were not (non-GMT group). Compared with the non-GMT group, patients in the GMT group were relatively older (t=-2.876, P=0.002), with higher proportion of hypertension ( χ²=7.492, P=0.006)，higher urine protein quantitation (Z=-2.115, P=0.003), lower levels of eGFR and serum complement C3 (Z=3.469, P<0.001; t=1.744, P<0.001), higher systemic lupus erythematosus disease activity index (t=-2.758, P=0.007). As to the pathological characteristics, type IV LN patients were the majority (72.97%). Proportion of crescents and pathological activity indicators of the GMT group were higher (Z=-1.866, P=0.002; t=-5.005, P<0.001), nuclear fragmentation, endothelial hyperplasia and renal tubular atrophy were more serious ( χ²=14.987, P<0.001; χ²=15.695, P<0.001; χ²=4.130, P=0.042). Multivariate logistic regression analysis indicated that serum complement C3 was a relational factor of the formation of GMT in LN patients (OR=0.966, 95％CI 0.938-0.995, P=0.023). Smooth curve fitting of generalized additive mixed model analysis indicated that level of complement C3 had a linear relationship with the changing trend of GMT. The Kaplan-Meier curve showed that there were statistical differences between the two groups in terms of complete remission of urine protein (Log-rank χ²=5.858, P=0.016) and doubled serum creatinine /end-stage renal disease (Log-rank χ²=3.945, P=0.047). Conclusions Serum C3 is closely related to the formation of GMT in LN patients, and statistical differences were demonstrated in the renal prognosis of GMT group and non-GMT group.

Objective To study the effect of baseline weight and its change on new-onset albuminuria or increased urine albumin/creatinine ratio (ACR) in the physical examination population. Methods The subjects of this study were those who completed two or more physical examinations at the Physical Examination Center of Sichuan Provincial People's Hospital from September 1, 2013 to September 1, 2018. The general information and laboratory examination results at the first and last physical examinations were collected. According to body mass index (BMI), they were divided into normal BMI group and overweight/obese group. The differences in general clinical data and laboratory test results between the two groups were compared. The primary endpoint events were new-onset albuminuria or urine ACR increase≥30%. Stepwise multiple linear regression method was used to analyze the influencing factors for ACR increase, and Cox proportional hazard model method was used to analyze the impact of baseline weight and its change on new-onset albuminuria or ACR increase≥30%. Results A total of 1 761 physical examination subjects were included in this study. The follow-up time was (16.54±7.87) months. There were 59 patients with new-onset albuminuria, 30 patients with ACR increase≥30%, and 35 patients with albuminuria reversal. Multiple linear regression analysis showed that BMI was an independent influencing factor for ACR ( β=0.127, P<0.001). Cox regression analysis showed that the older age (HR=1.041, 95%CI 1.018-1.064, P<0.001), hypertension (HR=2.035, 95%CI 1.278-3.242, P=0.003), diabetes (HR=2.081, 95%CI 1.310-3.305, P=0.002) and hyperuricemia (HR=1.700, 95%CI 1.084-2.668, P=0.021) were independent influencing factors for new-onset albuminuria or ACR increase≥30%, while BMI (HR=1.053, 95%CI 0.975-1.137, P=0.191) and weight change rate (HR=1.030, 95%CI 0.972-1.092, P=0.322) were not independent influencing factors for endpoint events. Subgroup analysis indicated that overweight/obesity had interactions with age, hypertension, diabetes, and hyperuricemia, respectively (P for interaction<0.05), and the effects of overweight/obesity on the pre-set primary endpoint events in each subgroup were basically consistent. There were interactions between weight gain and hypertension and diabetes (P for interaction<0.05). Weight gain increased the risk of the primary endpoint events of women (HR=3.355, 95%CI 1.164-9.670, P=0.025), and the effects of overweight/obesity on the pre-set primary endpoint events of each subcomponent were basically the same (all P﹥0.05). The incidence of albuminuria reversal in the group with obvious weight loss was slightly higher than that in the group with obvious weight gain, but the difference was not statistically significant (P﹥0.05), which might be related to the small weight loss range (-6.08%±3.51%). Conclusions Overweight or obesity may increase the risk of albuminuria, and people with diabetes, hypertension, and hyperuricemia may be more likely to occur. Mild weight loss is not enough to reverse albuminuria.

Objective To investigate the effect of tonsillectomy combined with glucocorticoids therapy on long-term clinical remission and renal prognosis in IgA nephropathy (IgAN) children with recurrent acute onset history of tonsillitis. Methods The clinical data of children who were diagnosed with primary IgAN from January 2000 to December 2017 in Jinling Hospital were retrospectively analyzed. All participants were treated with long course therapy of glucocorticoids. The children with recurrent acute onset history of tonsillitis were divided into tonsillectomy group and non-tonsillectomy group according to whether to perform tonsillectomy, followed up until the patients' serum creatinine doubled, the estimated glomerular filtration rate decreased by more than 50%, progression to end-stage renal disease, renal replacement therapy or death. The renal survival rate was calculated and compared by Kaplan-Meier method. Univariate and multivariate Cox regression models were used to analyze the effect of tonsillectomy on the renal prognosis of IgAN children. Results A total of 120 children with IgAN were enrolled in this study, including 40 cases in tonsillectomy group and 80 cases in non-tonsillectomy group. The median follow-up time was 97.5(57.3, 132.0) months. The clinical remission rate in the tonsillectomy group was higher than that in the non-tonsillectomy group (72.5% vs 45.0%, χ²=8.123, P=0.004). The Kaplan-Meier survival curve showed that there was no significant difference in renal survival rate between the two groups (Log-rank test χ²=0.070, P=0.791). Multivariate Cox regression analysis showed that tonsillectomy was not an independent risk factor affecting renal end-point events in IgAN children (HR=0.986, 95%CI 0.499-1.948, P=0.967). Conclusions The clinical remission rate of IgAN children undergoing tonsillectomy is higher than that of children without tonsillectomy. Tonsillectomy is not an independent factor affecting renal end-point events in IgAN children. Tonsillectomy does not delay the time of entry into end-stage renal disease for children with IgAN.