Introduction: This study aimed to characterize the clinical features, genetic profiles, and outcomes of primary hyperoxaluria (PH) in a Chinese cohort. Methods: We retrospectively reviewed patients diagnosed with PH between 2008 and 2025 at our institution. Diagnosis was established through genetic analysis or histopathological findings combined with clinical manifestations and positive family history. Clinical, laboratory, genetic, imaging, histopathological, treatment, and outcome data were collected. Results: Thirteen patients were included (PH1, n=7; PH2, n=3; PH3, n=2; unclassified, n=1). Median ages at symptom onset and diagnosis were 7 and 21 years, respectively. Renal involvement manifested as urolithiasis (92.3%) and nephrocalcinosis (30.8%). At diagnosis, the overall median serum creatinine was 335 µmol/L, and the median 24-hour urinary oxalate excretion was 0.8 mmol/1.73m² (n = 6). Systemic oxalate deposition was observed in 30.8% of patients, predominantly affecting bone and heart. Five previously unreported genetic variants were identified. Treatment consisted of supportive care, with vitamin B6 for PH1. Over a median follow‑up of 13.0 years, 100% of PH1 and 66.7% of PH2 patients progressed to end-stage renal disease, with two infantile-onset PH1 patients demonstrating rapid progression; conversely, PH3 patients preserved renal function (chronic kidney disease stage 1). Three PH1 patients developed recurrent oxalate nephropathy following isolated kidney transplantation. The overall mortality was 15.4%. Conclusions: PH commonly presents with non-specific symptoms of urolithiasis, frequently resulting in diagnostic delay. PH1 is associated with a more severe clinical course than other subtypes, particularly in infantile-onset cases. This study expands the known genetic variant spectrum and underscores the importance of early genetic diagnosis.
Acute kidney injury (AKI) increases the subsequent risk of chronic kidney disease (CKD), but the transition is shaped by the quality of tubular repair rather than nephron loss alone. We frame the gut-kidney axis as a bidirectional host-microbial system in which AKI-related inflammation, impaired solute clearance, altered tubular transport, intestinal barrier dysfunction, medications, diet, and intestinal transit may redirect microbial metabolic output during recovery. Repair-disrupting candidates, including trimethylamine N-oxide (TMAO), indoxyl sulfate (IS), p-cresyl sulfate (PCS), and broader aromatic solute burden, are evaluated alongside repair-permissive candidates such as short-chain fatty acids (SCFAs), selected indoles, and bile acids; polyamines are treated as bidirectional and stage-dependent. We connect these exposures to mitochondrial recovery, cell-cycle arrest, senescence, immune recruitment, endothelial stress, and fibroblast activation, while distinguishing microbial production from host transformation, renal clearance, and tubular uptake. Direct human AKI-to-CKD evidence remains limited, and antibiotic-depletion studies cannot isolate a single metabolite pathway. Translational studies should therefore combine longitudinal blood, urine, and fecal profiling with AKI etiology, treatment exposures, tubular injury markers, spatial kidney biology, and target-engagement endpoints.
Introduction: In recent years, the correlation between metabolic disorders and chronic kidney disease (CKD) has received increasing attention. However, the association between metabolic markers and CKD risk remains unclear. This study was conducted among middle-aged and elderly Chinese adults to investigate the relationship between metabolism-related indicators and CKD. Methods: Data were obtained from the 2011 and 2015 waves of the China Health and Retirement Longitudinal Study (CHARLS). Participants with hemoglobin glycation index (HGI), weight-adjusted-waist index (WWI), and CKD at baseline, as well as those with incomplete data, were excluded, leaving a cohort of 3,414 participants (aged ≥45 years) who completed follow-up and were included in the longitudinal study. Logistic regression models were used to investigate the longitudinal relationships between baseline HGI and WWI and CKD prevalence. Results: During the 4-year follow-up period (2012–2015), 303 participants (8.9%) developed new-onset CKD. Results demonstrated a significant association between the HGI and CKD incidence. This positive correlation remained stable after further adjusting for all covariates in Model 3 (OR = 1.27, 95% CI: 1.05–1.53). Subgroup analyses confirmed consistent, robust associations between HGI and CKD across subgroups. Threshold effect analysis indicated a stronger association between HGI and CKD risk when population HGI values were < 0.333. Furthermore, no significant association was found between WWI and CKD incidence in this study. Conclusions: The findings of this study indicate that HGI is significantly positively correlated with the risk of developing CKD. Effective management of HGI levels may help reduce the prevalence of CKD.
Background. Blood pressure (BP) is an important modifiable prognostic factor in maintenance hemodialysis patients. We previously introduced intradialytic time-averaged cumulative blood pressure (TAC-BP), calculated from all BP measurements obtained during each dialysis session using the trapezoidal rule. We hypothesized that the longitudinal slope of session-level TAC-BP values (TAC-BP Slope) is associated with all-cause mortality. Methods. This single-center retrospective cohort study included 209 maintenance hemodialysis patients followed from August 2018 to March 2025. Four longitudinal BP slope indicators were calculated: TAC-systolic BP (SBP) Slope, TAC-diastolic BP (DBP) Slope, Predialysis SBP Slope, and Predialysis DBP Slope. Multivariable Cox regression was performed. Non-linear associations were examined using tertile analysis. Incremental discrimination was assessed using bootstrap mean C-index comparison. Results. Over a mean follow-up of 2.8 years, 75 patients (35.9%) died. In linear Cox models, all four indicators were significantly associated with mortality, with TAC-DBP Slope showing the strongest linear association (HR 1.767, 95% CI 1.404–2.224). For TAC-DBP Slope, both declining (HR 4.21, 95% CI 2.28–7.75) and increasing (HR 2.81, 95% CI 1.44–5.50) tertiles showed significantly elevated mortality versus stable tertile, indicating a U-shaped association. In sensitivity analyses excluding measurements from the 6 months preceding death or censoring, the association in the declining tertile was attenuated and no longer significant (HR 1.44, 95% CI 0.73–2.84), whereas the increasing tertile remained significant (HR 2.07, 95% CI 1.06–4.06). C-index analysis demonstrated that TAC-DBP Slope deviation provided significantly improved internal discrimination beyond established and predialysis variables (ΔC = +0.048, p=0.010). Conclusions. Longitudinal TAC-DBP Slope shows a U-shaped association with all-cause mortality, but the two arms differ in origin: the declining arm largely reflects terminal decline preceding death, whereas the increasing arm persists after exclusion of terminal measurements. TAC-DBP Slope may therefore be useful for risk stratification rather than as a validated prediction tool.
