Objective To analyze the clinical features, efficacy and adverse reactions of enzyme replacement therapy (ERT) in patients with Fabry disease (FD). Methods The clinical data of FD patients in Shandong Provincial Hospital Affiliated to Shandong First Medical University from June 2020 to September 2021 were collected and the clinical manifestations, laboratory examinations, gene mutations, and efficacy and adverse reactions of ERT were retrospectively analyzed. Results Sixteen patients with FD were enrolled in this study, including 12 typical cases and 4 late-onset cases, with varied clinical manifestations. Compared with late-onset patients, typical patients had younger age of onset (P=0.001), lower activity of plasma alpha-galactosidase A (P=0.016) and higher globotriaosylsphingosine (lyso-GL-3, P=0.030). The typical patients [(13.50±10.08) years] and late-onset patients [(10.75±7.27) years] both had long delayed time of diagnosis. In 7 patients who underwent regular 6 ERT, lyso-GL-3 was significantly lower than before (P=0.018); after 6 treatments, the pain of 5 patients was relieved than before. Three patients with irregular ERT had aggravated symptoms, and 1 case had stroke recurrence during regular treatment. No serious adverse reaction occurred with the use of agalsidase β and α. Conclusions ERT can effectively reduce the level of plasma lyso-GL-3 in patients with FD and relieve symptoms, and has good safety. But the efficacy of ERT is dose-dependent, and clinical benefits require long-term observation and follow-up. Patients treated with ERT should have good compliance and can receive long-term regular treatment.

Objective To investigate the relationship between anemia and renal function prognosis in IgA nephropathy (IgAN) patients. Methods Patients diagnosed with IgAN by renal biopsy in Shenzhen Second People′s Hospital (The First Affiliated Hospital of Shenzhen University) from January 1, 2010 to December 31, 2018 were retrospectively analyzed. Patients who lacked baseline estimated glomerular filtration rate (eGFR), or patients with the baseline eGFR<15 ml·min^-1·(1.73 m²)^-1, or patients who lacked baseline hemoglobin data were excluded. Clinical data, laboratory data, pathological data and follow-up data of renal function were collected. Patients were divided into anemic group (hemoglobin level<120 g/L in males and<110 g/L in females) and non-anemic group. A generalized additive mixed model (GAMM) was used to analyze the relationship between anemia at baseline and decreased renal function (eGFR) in follow-up. Results A total of 821 IgAN patients were enrolled in this study, including 666 non-anemia patients and 155 anemia patients. There were 397 males (48.36%), aged (34.91±9.46) years. The median baseline eGFR was 72.00(15.00, 167.46) ml·min^-1·(1.73 m²)^-1, and the median baseline urinary protein quantification was 1.00(0.01, 15.82) g/24 h. The median follow-up time was 176(0, 3 770) days. A total of 2 352 repeated measurements were performed of which 1 268 (53.91%) repeated measurements were from males. Compared with those in non-anemia group, patients in anemia group had lower levels of baseline eGFR, body mass index (BMI) and serum albumin, higher proportion of females, and higher pathologic manifestations of glomerular segmental sclerosis (S1), tubulointerstitial atrophy/fibrosis (T1 and T2), and crescent (C1 and C2) (all P<0.05). Using the single-factor GAMM, the eGFR decreased by 4.778 ml·min^-1·(1.73 m²)^-1 (95% CI 2.727-6.830, P<0.001) more per year in the anemia group than that in the non-anemia group. After adjusting for age, gender, BMI, blood uric acid, mean arterial pressure, serum albumin, blood cholesterol, 24 h urinary protein, glomerular mesangial cell proliferation (M), capillary cell proliferation (E), glomerular segmental sclerosis (S), tubulointerstitial atrophy/fibrosis (T), and crescent formation (C), each additional year of time, eGFR decreased by 6.817 ml·min^-1·(1.73 m²)^-1 (95%CI 4.245-9.388, P<0.001) more in the anemia group than that in the non-anemia group. Conclusions Anemia is correlated with renal function decline in IgAN patiens. IgAN patients with anemia have accelerated deterioration of progress. Early intervention of anemia might delay renal function progression.

Objective To study the clinicopathological characteristics, treatment and prognosis in lupus nephritis (LN) patients with renal thrombotic microangiopathy (TMA), so as to provide more theoretical basis for clinicians to recognize and treat this disease. Methods The clinical data of LN patients who underwent renal biopsy in the First Affiliated Hospital of Zhengzhou University from January 1, 2012 to May 31, 2019 were retrospectively collected and analyzed. According to renal clinicopathological examination, the patients were divided into renal TMA group and non-renal TMA group. The clinical data, laboratory examination, renal pathological examination, therapeutic measures and prognostic between the two groups were compared. Follow-up end points were defined as composite ends, including all-cause death, entry into end-stage renal disease, and estimated glomerular filtration rate decrease>50% of baseline. Kaplan-Meier survival curve and log-rank test were used to compare the difference of survival rate between the two groups, and multivariate Cox regression equation was used to analyze the risk factors of endpoint events in LN patients. Results A total of 1 133 patients with LN were enrolled in this study. Patients with renal TMA were more likely to have hypertension ( χ²=16.310, P<0.001), higher baseline serum creatinine (Z=-6.918, P<0.001) and 24-hour urine protein ( Z=-2.232, P=0.026), and higher renal pathology activity index (AI) score (Z=1.957, P=0.001)and chronic index (CI) score (Z=1.836, P=0.002). The proportions of hormone shock (P<0.001) and plasma exchange (P<0.001) in the renal TMA group were higher than those in non-renal TMA group. After treatment of (12±2) months, patients in the renal TMA group had a lower complete response rate ( χ²=10.455, P=0.001) and a higher non-response rate ( χ²=6.047, P=0.014) than those in non-renal TMA group, and were associated with worse prognosis (Log-rank test χ²=26.490, P<0.001). Renal TMA was an independent risk factor for poor prognosis (HR=2.347, 95%CI 1.210-4.553, P=0.012). Conclusions Compared with LN patients without renal TMA, LN patients with renal TMA are more likely to have hypertension, with higher serum creatinine, 24-hour urinary protein, AI and CI, suggesting poorer treatment response and renal prognosis. Moreover, renal TMA is an independent risk factor for poor prognosis in patients with LN.

Objectives To investigate the epidemiological features and associated factors of chronic renal insufficiency (CRI) in Binhai county from Jiangsu province. Methods This is a cross-sectional study including individuals aged≥18 years old and participating in health examinations of Binhai county from January to December 2018. Medical records were collected to analyze the epidemiology of CRI [estimated glomerular filtration rate <60 ml·min^-1·(1.73 m²)^-1]. Multivariate logistic regression was used to analyze the associated influencing factors of CRI. Results A total of 395 541 individuals residing in Binhai county were enrolled, with 190 258 males (48.1%) and age of (55.34±15.12) years old. The overall crude prevalence of CRI was 2.04% (8 065/395 541, 95%CI 2.00%-2.08%) in this adult population. Furthermore, the age- and gender- standardized overall prevalence of CRI was 1.22% (95%CI 1.18%-1.25%), with a rate of 1.47% (4 676/205 283, 95%CI 1.42%-1.52%) in women and a rate 0.95% (3 389/190 258, 95%CI 0.91%-1.00%) in men. There was a strong positive correlation between the risk of CRI and age (per 10-year increase, OR=2.449, 95%CI 2.402-2.497). Compared with individuals <30 years old, the OR of CRI in individuals aged 60-69, 70-79 and ≥80 years old were 3.827 (95%CI 3.010-4.864), 12.004 (95%CI 9.457-15.239) and 44.636 (95%CI 35.187-56.622) respectively. Females (OR=1.142, 95%CI 1.083-1.203), increasing systolic blood pressure (per 10 mmHg increase, OR=1.062, 95%CI 1.048-1.076), increasing heart rate (per 10-beat/min increase, OR=1.071, 95%CI 1.044-1.098), elevating triglyceride (per 1.33 mmol/L increase, OR=1.140, 95%CI 1.119-1.162), elevating fasting blood glucose (5.6-6.9 mmol/L /<5.6 mmol/L, OR=1.158, 95%CI 1.086-1.233; ≥7 mmol/L /<5.6 mmol/L, OR=1.387, 95%CI 1.296-1.484) and central obesity (OR=1.126, 95%CI 1.068-1.187) were independent risk factors for CRI. Conclusions The age- and gender-adjusted prevalence of CRI in adults in Binhai county is 1.22%. Older age, females, central obesity, and high levels of triglyceride, systolic blood pressure, heart rate and fasting glucose are independent associated factors of CRI.

Objective To investigate the association between C-reactive protein (CRP)/albumin (ALB) ratio (CAR) and mortality in peritoneal dialysis (PD) patients. Methods Clinical data of 791 PD patients in the Second Affiliated Hospital of Soochow University from January 1, 2004 to December 31, 2019 were retrospectively collected. According to the baseline quartiles of CAR, patients were divided into three groups: low-level CAR group (CAR≤0.161 mg/g, n=264), medium-level CAR group (CAR 0.162-0.214 mg/g, n=263) and high-level CAR group (CAR≥0.215 mg/g, n=264). The clinical data among the three groups were compared. Follow-up was ended on March 31, 2020, or when the patients stopped PD due to death, shift to hemodialysis, renal transplantation or recovery of renal function. Kaplan-Meier survival curve, multivariate Cox proportional hazard model and Fine-Gray competing risk model were used to assess the relationship between CAR and all-cause mortality and cardiovascular and cerebrovascular mortality. The association between CAR, CRP, ALB, neutrophil to lymphocyte ratio (NLR), or platelet to lymphocyte ratio (PLR) and mortality in PD patients was compared by receiver-operating characteristic curve (ROC curve) analysis. Results The age of the patients was (59.8±15.7) years old, and 447(56.5%) patients were males. 714(90.3%) patients had hypertension. 233(29.5%) patients had diabetes. 182(23.0%) patients had cardiovascular diseases. The median follow-up time was 55(31, 88) months. By the end of the follow-up, 236 deaths (29.8%) happened, and 95 patients (12.0%) died from cardiovascular and cerebrovascular diseases. Kaplan-Meier survival analysis results showed that the overall survival rate of the high-level CAR group was lower than those of the low-level CAR group and medium-level CAR group (Log-rank test χ²=109.50, P<0.001). Multivariate Cox regression analysis and Fine-Gray competing risk model revealed that CAR was independently correlated with all-cause mortality and cardiovascular and cerebrovascular mortality after adjusting for confounding factors (HR=2.891, 95%CI 1.921-4.351, P<0.001; SHR=1.297, 95%CI 1.128-1.490, P<0.001). ROC curve analysis results showed that the area under the curve (AUC) of CAR for predicting the risk of all-cause mortality in PD patients was 0.737(95%CI 0.700-0.774), which was superior to those of CRP (AUC=0.643, 95%CI 0.599-0.687), NLR(AUC=0.608, 95%CI 0.563-0.653) and PLR (AUC=0.554, 95%CI 0.508-0.601), and slightly lower than ALB (AUC=0.752, 95%CI 0.716-0.788). The optimal cutoff value of CAR for death was 0.19 mg/g, with the sensitivity and specificity of 70.8% and 68.3%, respectively. Conclusions Increasing CAR level is an independent risk factor of all-cause mortality and cardiovascular and cerebrovascular mortality in PD patients, and its correlation with mortality is higher than those of inflammatory parameters such as CRP, NLR and PLR.

Objective To explore the isolation and culture methods of mouse parietal epithelial cells (PECs) of Bowman′s capsule, so as to provide a cell tool for further study. Methods Mouse renal corpuscles were isolated by cell sieving combined with magnetic separation. After primary culture, identified parietal epithelial cells were induced to differentiate into podocytes. Immunofluorescence staining, real-time quantitative PCR and Western blotting were used to detect specific markers of parietal epithelial cells and podocytes. Results Primary cultured PECs grew like paving stone and expressed Claudin-1 (PECs specific marker), CD133 (stem cell marker) and CD24 (stem cell marker), without the expression of tubular epithelial cell proteins, mesangial cell and podocyte specific proteins. Cultured to 6 generations in vitro, the PECs still expressed Claudin-1, CD133 and CD24. After incubated with differentiation medium, PECs were able to express podocyte markers WT-1 and Synaptopodin. Conclusion The renal corpuscles are extracted by cell sieving combined with magnetic separation, and the mouse PECs successfully cultured in vitro can be induced to express podocytes′ markers.

Objective To establish a IgA nephropathy (IgAN) standard dataset for the structured and standardization of IgAN clinical information, which will be beneficial to the integration and utilization of clinical information among different medical institutions. Therefore, the IgAN Expert Collaboration Group composed the "IgA Nephropathy Standard Dataset". Methods Referring to the domestic information standards, guidelines, data standard and consensus of related fields, based on electronic medical history, the patient identification number was used as the primary key of the system to collect information. By standardizing each data element in the data set, the standardization of the management system in data and information exchange, data collaboration and sharing was ensured, and a quality control system was developed. Results This standard dataset included 607 data elements and 8 business domains, which were patient information, medical history information, physical examination, laboratory examination, assistant examination, renal pathology, drug treatment, and follow-up, respectively. Each module was composed of module name, data element name, English name, definition, range, reference standard, etc. At the same time, a corresponding quality control system was formulated to evaluate data quality from multiple dimensions such as completeness, standardization, accuracy, timeliness, and security for ensuring the high quality and security of the data. Conclusion The IgAN standard dataset is established, which will contribute to the structuration and standardization of clinical information of IgAN patients.