OBJECTIVES: To summarize the clinical and genetic characteristics of end-stage renal disease caused by PLCE1 gene mutations. METHODS: A retrospective analysis of the clinical and genetic features of three children from a family with PLCE1 gene mutations was conducted, along with a literature review of hereditary kidney disease cases caused by PLCE1 gene mutations. RESULTS: The proband was an 8-year-old male presenting with nephrotic syndrome stage 4 chronic kidney disease. Renal biopsy showed focal segmental glomerulosclerosis. Two years and five months after kidney transplantation, the patient had persistent negative proteinuria and normal renal function. Whole-exome sequencing identified two pathogenic heterozygous variants: c.961C>T and c.3255_3256delinsT, with c.3255_3256delinsT being a novel mutation. Family screening revealed no renal involvement in the parents, but among five siblings, one brother died at age of 4 years from end-stage renal disease. A 7-year-old sister presented with proteinuria and bilateral medullary sponge kidney, with proteinuria resolving after one year of follow-up. A 3-year-old brother died after kidney transplantation due to severe pneumonia. The literature review included 45 patients with hereditary kidney disease caused by PLCE1 gene mutations. The main clinical phenotype was nephrotic syndrome (87%, 39/45), and renal pathology predominantly showed focal segmental glomerulosclerosis (57%, 16/28). No mutation hotspots were identified. CONCLUSIONS Compound heterozygous mutations in the PLCE1 gene can lead to rapid progression of the disease to end-stage renal disease, with favorable outcomes following kidney transplantation. Family screening is crucial for early diagnosis, and medullary sponge kidney may be a novel phenotype associated with these gene mutations.
Humans ; Male ; Proteinuria/genetics* ; Kidney Failure, Chronic/etiology* ; Child ; Mutation ; Female ; Child, Preschool ; Retrospective Studies ; Phosphoinositide Phospholipase C

OBJECTIVES: To investigate the effect of serum advanced glycation endproducts (AGEs) on stenosis after first autologous arteriovenous fistula (AVF) in patients with end-stage renal disease (ESRD). METHODS: Patients with ESRD undergoing standard native arteriovenous fistula (AVF) for the first time in the Department of Nephrology, Affiliated Hospital of Guilin Medical University from February to June 2022 were prospectively enrolled. The preoperative general data, clinical examination results and ultrasound data of the operated limbs were collected. The patients with and without stenosis within 2 months after the operation were compared for preoperative serum AGEs levels detected using ELISA and the clinical parameters. Logistic regression analysis was used to analyze the independent risk factors of AVF stenosis, and the sensitivity and specificity of AGEs for predicting postoperative stenosis were analyzed using receiver-operating characteristic (ROC) curve. RESULTS: Of the 94 patients enrolled, 34 had postoperative arteriovenous stenosis and 60 had no stenosis. The number of diabetic patients differed significantly between stenosis group and non-stenosis group (P<0.001). Serum AGEs levels, which were negatively correlated with serum phosphorus level (P<0.05), were significantly higher in stenosis group than in non-stenosis group (Z=-2.837, P=0.005). Serum AGE level was an independent risk factor for postoperative stenosis after AVF (OR=1.251, 95% CI:1.096-1.423, P<0.001). For predicting AVF stenosis, the area under the ROC curve (AUC) of AGEs was 0.677 (P=0.007, 95% CI: 0.572-0.770), with a specificity of 90.00% and a sensitivity of 52.94% at the optimal cut-off value of 8.43 µg/mL; AGEs combined with fibrinogen had an AUC of 0.763 (P<0.001, 95% CI: 0.664-0.844), with a specificity of 73.33% and a sensitivity of 70.59% at the optimal cut-off value of 0.30. CONCLUSIONS Elevated serum AGEs level is an independent risk factor for postoperative AVF stenosis, and its combination with fibrinogen has a better efficacy for predicting postoperative AVF stenosis.
Humans ; Glycation End Products, Advanced/blood* ; Risk Factors ; Arteriovenous Shunt, Surgical/adverse effects* ; Kidney Failure, Chronic/blood* ; Male ; Constriction, Pathologic/etiology* ; Female ; Middle Aged ; Postoperative Complications/etiology* ; Renal Dialysis ; Aged ; Prospective Studies ; ROC Curve ; Adult

BACKGROUND: The clinical importance of hypokalemia is likely underrecognized in Chinese dialysis patients, and whether its clinical effect was mediated by serum albumin is not fully elucidated. This study aimed to explore the association between serum potassium and mortality in dialysis patients of a Chinese nationwide multicenter cohort, taking albumin as a consideration. METHODS: This was a prospective nation-wide multicenter cohort study. Restricted cubic splines were used to test the linearity of serum potassium and relationships with all-cause (AC) and cardiovascular (CV) mortality and a subsequent two-line piecewise linear model was fitted to approach the nadir. A mediation analysis was performed to examine relations of albumin to potassium and mortalities. RESULTS: A total of 10,027 patients were included, of whom 6605 were peritoneal dialysis and 3422 were hemodialysis patients. In the overall population, the mean age was 51.7 ± 14.8 years, 55.3%(5546/10,027) were male, and the median dialysis vintage was 13.60 (4.70, 39.70) months. Baseline serum potassium was 4.30 ± 0.88 mmol/L. After a median follow-up period of 26.87 (14.77, 41.50) months, a U-shape was found between potassium and mortality, and a marked increase in risk at lower potassium but a moderate elevation in risk at higher potassium were observed. The nadir for AC mortality risk was estimated from piecewise linear models to be a potassium concentration of 4.0 mmol/L. Interestingly, the significance of the association between potassium and mortality was attenuated when albumin was introduced into the extended adjusted model. A subsequent significant mediation by albumin for potassium and AC and CV mortalities were found ( P < 0.001 for both), indicating that hypokalemia led to higher mortality mediated by low serum albumin, which was a surrogate of poor nutritional status and inflammation. CONCLUSIONS Associations between potassium and mortalities were U-shaped in the overall population. The nadir for AC mortality risk was at a potassium of 4.0 mmol/L. Serum albumin mediated the association between potassium and AC and CV mortalities.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; East Asian People ; Hypokalemia/etiology* ; Kidney Failure, Chronic/mortality* ; Potassium/blood* ; Prospective Studies ; Renal Dialysis ; Serum Albumin/analysis*

Objective: To investigate the etiology, complications, and prognostic factors of stage 5 chronic kidney disease (CKD5) in children. Methods: A case series study was conducted to retrospectively analyze the general situation, clinical manifestations, laboratory tests, genetic testing, and follow-up data (until October 2022) of 174 children with CKD5 who were diagnosed and hospitalized at the Children's Hospital of Chongqing Medical University from April 2012 to April 2021. The characteristics of complications in the children were compared based on age, gender, and etiology. Based on the presence or absence of left ventricular hypertrophy (LVH), patients were divided into LVH group and non LVH group for analyzing the influencing factors of cardiovascular disease. Patients were also divided into death group and survival group, peritoneal dialysis group and hemodialysis group based on the follow-up data for analyzing the prognostic factors. The chi-square test, independent sample t-test, Fisher exact probability test, Mann-Whitney U test and Kruskal Wallis test were used to analyze data among different groups. Multivariate Logistic regression analysis was used to identify the prognostic factors. Results: A total of 174 children with CKD5 were enrolled in the study (96 boys and 78 girls), aged 11.2 (8.2, 13.0) years. Congenital kidney and urinary tract malformations (CAKUT) were the most common causes of the CKD5 (84 cases, 48.3%), followed by glomerular diseases (83 cases, 47.7%), and among which 28 cases (16.1%) were hereditary glomerular diseases. The common complications of CKD5 included anemia (98.2%, 165/168), mineral and bone disorder in chronic kidney disease (CKD-MBD) (97.7%, 170/174), lipid metabolism disorders (87.5%, 63/72), hypertension (81.4%, 127/156) and LVH (57.6%,57/99). The incidences of hypertension in primary glomerular disease were higher than that in CAKUT(93.8%(30/32) vs.73.7%(56/76),χ²=5.59,P<0.05). The incidences of hypertension in secondary glomerular disease were higher than that in CAKUT and that in hereditary kidney disease (100.0%(20/20) vs. 73.7%(56/76), 68.2%(15/22), both P<0.05). The incidence of hypocalcemia in CAKUT, primary glomerular disease, and hereditary kidney disease was higher than that in secondary glomerular disease (82.1%(69/84), 88.2%(30/34), 89.3%(25/28) vs. 47.6%(10/21), χ²=10.21, 10.75, 10.80, all P=0.001); the incidence of secondary hyperparathyroidism in women was higher than that in men (80.0%(64/80) vs. 95.0%(57/60), χ²=6.58, P=0.010). The incidence of LVH in children aged 6-<12 was higher than that in children aged 12-18 (73.5%(25/34) vs. 43.1%(22/51), χ²=7.62, P=0.006). Among 113 follow-up children, the mortality rate was 39.8% (45/113). Compared to the survival group, the children in the death group had lower hemoglobin, higher blood pressure, lower albumin, lower alkaline phosphatase and higher left ventricular mass index ((67±19) vs. (75±20) g/L, 142 (126, 154) vs. 128(113, 145) mmHg(1 mmHg=0.133 kPa), (91±21) vs. (82±22) mmHg, 32 (26, 41) vs. 40 (31, 43) g/L, 151 (82, 214) vs. 215 (129, 37) U/L, 48 (38, 66) vs. 38(32, 50) g/m^2.7,t=2.03, Z=2.89, t=2.70, Z=2.49, 2.79, 2.29,all P<0.05), but no independent risk factors were identified (all P>0.05). The peritoneal dialysis group had better alleviation for anemia, low calcium, and high phosphorus than the hemodialysis group ((87±22) vs. (72±16) g/L, (1.9±0.5) vs. (1.7±0.4) mmol/L, (2.2±0.7) vs. (2.8±0.9) mmol/L, t=2.92, 2.29, 2.82, all P<0.05), and the survival rate of the peritoneal dialysis group was significantly higher than that of the hemodialysis group (77.8% (28/36) vs. 48.4% (30/62), χ²=8.14, P=0.004). Conclusions: CAKUT is the most common etiology in children with CKD 5, and anemia is the most common complication. The incidence of complications in children with CKD 5 varies with age, gender and etiology. Anemia, hypertension, hypoalbuminemia, reduced alkaline phosphatase and elevated LVMI may be the prognostic factors in children with CKD5. Peritoneal dialysis may be more beneficial for improving the long-term survival rate.
Male ; Humans ; Child ; Female ; Retrospective Studies ; Alkaline Phosphatase ; Kidney Failure, Chronic/therapy* ; Renal Insufficiency, Chronic/therapy* ; Hypertension ; Risk Factors ; Hypertrophy, Left Ventricular/etiology* ; Anemia/etiology*

Objective: To investigate risk factors for the long-term prognosis of primary focal segmental glomerulosclerosis (FSGS) and associated with renal prognosis in children. Methods: A retrospective study was conducted by collecting clinical data including general information, clinical features and renal pathological findings of 124 children with primary FSGS in Department of Pediatrics of Jinling Hospital from January 2003 to December 2019. The cumulative renal survival rate was calculated by Kaplan-Meier survival analysis. The risk factors related to renal prognosis were identified by Cox regression risk model analysis and receiver operating characteristic (ROC) curve. Results: Among 124 children, 94 were males (75.8%) and 30 were females (24.2%). The children were 16 (14, 17) years of age at the time of kidney biopsies. There were 102 cases (82.3%) aged from 13 to 18 years. The period of follow-up was 64.8 (32.1, 86.0) months. There were 49 cases (39.5%) with nonspecific variant, 33 cases (26.6%) with tip variant, 22 cases (17.7%) with collapsing variant, 14 cases (11.3%) with cellular variant and 6 cases (4.8%) with periportal variant. The data of Kaplan-Meier survival analysis showed that cumulative renal survival rates of end-stage kidney disease (ESKD) or ≥50% decline in estimated glomerular filtration rate (eGFR) from baseline at the year of 5, 10 and 15 after renal biopsies were 66.9%, 51.4% and 21.0% respectively. Multivariate Cox regression analysis showed that hypertension, glomerular segmental sclerosis ratio, moderate to severe chronic tubulointerstitial lesions were independent risk factors for progressing to ESKD or ≥50% reduction in eGFR from baseline in pediatric FSGS (HR=5.28, 1.03, 7.81, 95%CI 2.77-10.05, 1.01-1.04, 4.08-14.98, all P<0.01). ROC curve analysis showed glomerular segmental sclerosis ratio (AUC=0.734, P<0.05, optimal cut-off value=25.4%, sensitivity=50.0%, specificity=88.6%), moderate and severe chronic renal tubulointerstitial lesions (AUC=0.724, P<0.05, sensitivity=46.3%, specificity=98.6%) had good efficacy in evaluating renal outcomes of FSGS. Conclusions: The long-term prognosis of FSGS in children is poor. The risk factors of poor prognosis in children with FSGS are hypertension, moderate to severe chronic renal tubulointerstitial lesions and glomerular segmental sclerosis (≥25.4%).
Adolescent ; Child ; Female ; Glomerulosclerosis, Focal Segmental/complications* ; Humans ; Hypertension ; Kidney Failure, Chronic/etiology* ; Male ; Prognosis ; Retrospective Studies ; Sclerosis

OBJECTIVE: To analyze the clinical characteristics and treatment outcomes of the first episode of peritoneal dialysis-associated peritonitis (PDAP) in patients receiving long-term peritoneal dialysis. METHODS: The clinical data of patients with the first episode of PDAP in 4 general hospitals in Jilin Province from 2013 to 2019 were collected retrospectively. According to the duration of dialysis, the patients were divided into long-term (≥36 months) and short-term (< 36 months) dialysis groups for comparison of the clinical data, treatment outcomes and long-term prognostic events. RESULTS: A total of 625 patients with PDAP were enrolled, including 93 on long-term and 532 on short-term dialysis. Compared with those on short-term dialysis, the patients on long-term dialysis had significantly higher hemoglobin levels and lower glomerular filtration rates when the first episode of PDAP occurred ( CONCLUSIONS Compared with those on short-term dialysis, patients on long-term dialysis are prone to gram-negative bacterial infection when the first episode of PDAP occurs with worse treatment outcomes but similar long-term outcomes. Long-term dialysis is an independent risk factor of extubation and treatment failure for the first episode of PDAP, and fungal and mixed bacterial infections are independent risk factors for treatment failure of the first PDAP in patients with long-term dialysis.
Humans ; Kidney Failure, Chronic/therapy* ; Peritoneal Dialysis/adverse effects* ; Peritonitis/etiology* ; Retrospective Studies ; Treatment Outcome

Adult ; Aged ; Cross-Sectional Studies ; Erectile Dysfunction ; epidemiology ; etiology ; Humans ; Kidney Failure, Chronic ; complications ; therapy ; Male ; Middle Aged ; Prevalence ; Renal Dialysis ; Risk Factors ; Young Adult

Peritoneal dialysis (PD)-related peritonitis is recognized as a common complication of peritoneal dialysis. Eosinophilic peritonitis is a rare type of non-infection PD-related peritonitis. Eosinophilic peritonitis in continuous ambulatory peritoneal dialysis (CAPD) patients was first reported in 1967. The cause of eosinophilic peritonitis is obscure, however it may be related to some etiologies: (1) hypersensitivity to PD materials, including catheter or dialysate; (2) bacteria, fungal or mycobacterium tuberculosis infection. Clinical investigations include asymptomatic cloudy PD effluent, fever, abdominal pain and eosinophil count elevate in PD effluent. Eosinophilic peritonitis is usually mild and self-limited. With the development of PD, more eosinophilic peritonitis cases and researches were reported. Here, we report a patient on CAPD with eosinophilic peritonitis. A 71-year-old female patient developed end-stage renal disease for 4 years and underwent CAPD (2 000 mL of 1.5% dialysis solution with four exchanges daily) for 5 months. With a history of unclean food, she was hospitalized for complaints of diarrhea, fever and cloudy peritoneal effluent for 10 days. Dialysis effluent showed an elevated white blood cell (WBC) count of 1 980 cell/mm³, with 60% polymorphonuclear cells. She was diagnosed as PD-related peritonitis, and therapy was initiated with intraperitoneal ceftazidime 1 g once a day and vancomycin 500 mg every other day. She was admitted to the hospital as the symptoms were not relieved. Her peripheral blood cell count showed a total WBC count of 6 940 cells/mm³, 36.8% eosinophil. Her PD effluent analysis showed turbidity, total WBC count of 1 480 cells/mm³, and 83% polymorphonuclear cells. Her dialysate bacteria culture, fungus culture, polymerase chain reaction for Mycobacterium tuberculosis (TB-PCR), acid-fast stain were all negative. On admission day 4, the treatments were changed to levofloxacin 200 mg once a day and vancomycin 500 mg every other day. After two weeks of antibiotics treatment, patient's symptoms were not completely improved and her dialysis effluent remained cloudy. Her blood eosinophil count elevated to 36.8%，eosinophil proportion in PD effluent>90% and PD effluent pathological findings showed eosinophil>90%. Eosinophilic peritonitis was diagnosed and a decision was made to give loratadine daily dose of 10 mg orally. The possible reasons might be the patient's allergy to some components of PD solution or connection systems in the beginning of PD, and this bacterial peritonitis episode, as well as the application of vancomycin, might lead to the fact that eosinophilic peritonitis acutely developed. For there was no improvement in clinical symptoms, loratadine was stopped, and the patient was discharged 18 days later, and received follow-up closely. Two months later, eosinophil count in blood and PD fluid decreased to normal range with no symptom. This case reminds us that in any PD-related peritonitis patient with prolonged symptoms after appropriate antibiotic therapy, and typical clinical symptoms, the diagnosis of eosinophilic peritonitis should be considered. For the count and percentage of eosinophils are not routinely reported in most laboratories, doctors need to contact the department of laboratory and the department of pathology, to confirm the cell count and proportion of eosinophils in dialysis effluent, so as to make the definite diagnosis, which can not only avoid antibiotics overuse, but also avoid antibiotics-induced eosinophilic peritonitis (such as vancomycin).
Aged ; Anti-Bacterial Agents/therapeutic use* ; Eosinophilia/etiology* ; Female ; Humans ; Kidney Failure, Chronic/therapy* ; Peritoneal Dialysis, Continuous Ambulatory/adverse effects* ; Peritoneum ; Peritonitis/etiology*

PURPOSE: Endothelial dysfunction (ED) is a pivotal phenomenon in the development of cardiovascular disease (CVD) in patients receiving hemodialysis (HD). Indoxyl sulfate (IS) is a known uremic toxin that induces ED in patients with chronic kidney disease. The aim of this study was to investigate whether AST-120, an absorbent of IS, improves microvascular or macrovascular ED in HD patients. MATERIALS AND METHODS: We conducted a prospective, case-controlled trial. Fourteen patients each were enrolled in respective AST-120 and control groups. The subjects in the AST-120 group were treated with AST-120 (6 g/day) for 6 months. Microvascular function was assessed by laser Doppler flowmetry using iontophoresis of acetylcholine (Ach) and sodium nitroprusside (SNP) at baseline and again at 3 and 6 months. Carotid arterial intima-media thickness (cIMT) and flow-mediated vasodilation were measured at baseline and 6 months. The Wilcoxon rank test was used to compare values before and after AST-120 treatment. RESULTS: Ach-induced iontophoresis (endothelium-dependent response) was dramatically ameliorated at 3 months and 6 months in the AST-120 group. SNP-induced response showed delayed improvement only at 6 months in the AST-120 group. The IS level was decreased at 3 months in the AST-120 group, but remained stable thereafter. cIMT was significantly reduced after AST-120 treatment. No significant complications in patients taking AST-120 were reported. CONCLUSION: AST-120 ameliorated microvascular ED and cIMT in HD patients. A randomized study including a larger population will be required to establish a definitive role of AST-120 as a preventive medication for CVD in HD patients.
Acetylcholine ; Adult ; Carbon/*therapeutic use ; Cardiovascular Diseases/etiology/*prevention & control ; Carotid Intima-Media Thickness ; Endothelium, Vascular/*physiopathology ; Female ; Humans ; Iontophoresis ; Kidney Failure, Chronic/complications/*physiopathology/*therapy ; Laser-Doppler Flowmetry ; Male ; Microcirculation/physiology ; Middle Aged ; Nitroprusside ; Oxides/*therapeutic use ; Prospective Studies ; *Renal Dialysis ; Young Adult

In this study, we characterized cerebral blood flow changes by assessment of blood flow parameters in neck arteries using carotid duplex ultrasonography and predictive factors for these hemodynamic changes. Hemodynamic variables were measured before and during hemodialysis in 81 patients with an arteriovenous access in their arm. Hemodialysis produced significant lowering in peak systolic velocity and flow volume of neck arteries and calculated total cerebral blood flow (1,221.9 ± 344.9 [before hemodialysis] vs. 1,085.8 ± 319.2 [during hemodialysis], P < 0.001). Effects were greater in vessels on the same side as the arteriovenous access and these changes were influenced by arteriovenous access flow during hemodialysis, both in the CCA (r = -0.277, P = 0.015) and the VA (r = -0.239, P = 0.034). The change of total cerebral blood flow during hemodialysis was independently related with age, presence of diabetes, and systemic blood pressure.
Aged ; Carotid Arteries/diagnostic imaging ; Cerebrovascular Circulation/*physiology ; Dizziness/etiology ; Female ; Hemodynamics/*physiology ; Humans ; Kidney Failure, Chronic/*physiopathology ; Male ; Middle Aged ; Renal Dialysis ; Risk Factors ; Ultrasonography, Doppler, Duplex