BMC Nephrology最新文献

Background: Chronic kidney disease (CKD) has detrimental effects on health through multiple pathophysiological mechanisms, significantly reducing life expectancy and contributing to a substantial disease burden. Therefore, this study aims to explore the association of metabolic syndrome (MetS) and hyperuricemia (HUA) with all-cause and cardiovascular mortality in patients with chronic kidney disease (CKD).

Methods: Overall, 28,278 patients with CKD, defined by estimated glomerular filtration rate < 60 mL/min/1.73 m² or urine albumin creatinine ratio > 3 mg/mmol, MetS (≥ 3 of 5 criteria), and HUA (> 7.0 mg/dL in males, > 6.0 mg/dL in females) were assessed. The outcomes included all-cause and cardiovascular mortality. Associations were assessed using multivariate-adjusted Cox proportional hazards models and Kaplan-Meier survival analysis, supplemented by subgroup analyses and sensitivity tests.

Results: During a median follow-up of 13.21 years, 3564 all-cause deaths (17.28%) were recorded, including 1025 (4.97%) attributable to cardiovascular causes. After multiple adjustments, both HUA and MetS were strongly associated with all-cause and cardiovascular mortality. Patients with CKD and coexisting HUA or MetS exhibited a significantly higher risk of all-cause mortality (adjusted hazard ratio [aHR] = 1.45, 95% confidence interval [CI]: 1.30-1.62) and cardiovascular mortality (aHR = 2.09, 95% CI: 1.70-2.58) than those without HUA or MetS. Kaplan-Meier curves demonstrated that elevated uric acid levels and a high number of MetS components significantly reduced survival probability (P < 0.001), with an increasing trend as the uric acid levels and the number of MetS components increased. Subgroup and sensitivity analyses confirmed the robustness and consistency of our findings.

Conclusion: MetS and HUA significantly increased all-cause and cardiovascular mortality in patients with CKD, particularly in those with high uric acid levels and a high number of MetS components.

Clinical trial number: Not applicable.

Purpose: Chronic kidney disease (CKD) is a global health issue, and hemodialysis (HD) is the most commonly used dialysis method. Incremental HD has been proposed as an alternative, but evidence on its safety and benefits is limited. This study compared residual kidney function (RKF) preservation in patients undergoing incremental versus standard HD, also evaluating quality of life, hospitalizations and mortality.

Methods: This retrospective, longitudinal, observational case-control study included stage 5 CKD patients who started either incremental or standard HD between January 2021 and January 2023. The case group included patients who began incremental HD (2 weekly sessions lasting 4 h or 3 weekly sessions lasting < 3.5 h), and the control group included patients who started standard HD schedule (thrice-weekly, minimum 4-hour sessions). The groups were matched by age, sex, underlying disease, comorbidities, and baseline lab values.

Results: 80 patients were included (50% male; mean age 63.8 ± 11.9 years). Diabetes (32.5%) and hypertension (22.5%) were the main underlying conditions. Over two years, 3.8% had kidney transplants, 6.2% died, and 2.5% recovered kidney function. 45% of incremental HD patients retained RKF; none did in the standard HD schedule group. Incremental group had fewer infections, longer time free from loss of RKF than control group and better quality of life. No differences were found in cardiovascular events, mortality, or transplantation. RKF preservation was associated with incremental HD, higher albumin, and absence of bloodstream infections.

Conclusion: Starting HD with an incremental may better preserve RKF without compromising survival, while improving quality of life. Further clinical trials are needed to evaluate the safety and effectiveness of incremental HD and support its broader, patient-centered use.

Clinical trial number: Not applicable.

Background: There is a need for a user-led, evidence-based digital application (app.) that meets the identified information and support needs and preferences of young people and young adults aged 12-35 years (YP/YA) with Nephrotic Syndrome (NS) in the United Kingdom (UK). The password protected novel Nephrotic Syndrome Trust (NeST) app was therefore co-designed with YP/YA with NS to empower them to: access news of NS related events, take more control of their treatment and feel confident in sharing and accessing their data. The app allows YP/YA with NS to record regular urine dipstick readings, blood pressure, weight, temperature, medications, immunisations, symptoms (e.g. swollen feet), relapse or remission episodes, and the name of their renal unit. Additional features include an appointment diary to record feedback from their renal multidisciplinary team, treatment information and hospital admission episodes. The software was approved for release on iOS & Android app stores and the NHS Digital verification programme, meaning that users can be identified against their NHS records. The aim of the survey was to evaluate the NeST App from the perspective of YP/YA with NS.

Methods: Through a consultative process, an online survey involving a combination of closed and open-ended questions was created and circulated via social media and email to target users of the app.

Results: Twenty YP/YA with NS aged 12 years and older tested the app, completed the survey and provided quantitative and qualitative data. All found this app helpful, and easy to use and all would use it in future as part of standard practice.

Conclusions: These data provide important feedback and suggestions for further app refinement and will integrate it with current national data collection via the UK Renal Registry (UKRR). To build on this collaborative project the developers will continue to collaborate with patients and health care professionals to ensure the app is a continually evolving and relevant resource, providing a voice for those living with NS. The app technology could potentially be rebooted and relaunched at minimal cost to support patients with other kidney conditions.

Clinical trial number: Not applicable.

Background: Hereditary gelsolin amyloidosis (AGel amyloidosis) is a rare autosomal dominant systemic amyloidosis caused by mutations in the Gelsolin (GSN) gene encoding gelsolin. The condition is characterized by a triad of cranial nerve involvement, corneal lattice amyloidosis, and skin laxity, with a small proportion of cases involving the kidneys and heart. We report the first case of renal AGel amyloidosis associated with a c.487G > A mutation in the GSN gene, presenting as isolated proteinuria.

Case presentation: A 55-year-old woman presented with proteinuria. She had a history of hypertension and diabetes but no family history of kidney disease. Physical examination revealed no abnormalities in the heart, eyes, nerves, or skin. Urinalysis showed moderate proteinuria (1975.5 mg/24h), and serum creatinine was normal (0.71 mg/dL). Renal biopsy revealed Congo red-positive glomeruli on light microscopy, with apple-green birefringence under polarized light. Electron microscopy showed randomly arranged fibrillar deposits in the glomeruli. Mass spectrometry analysis confirmed that the deposits were consistent with gelsolin protein. Genetic testing revealed a heterozygous missense mutation in the GSN gene (NM_198252.3; c.487G > A; p.Asp163Asn). The patient was diagnosed with AGel amyloidosis. Additionally, we compiled the phenotypic and genotypic characteristics of previously reported AGel amyloidosis cases.

Conclusion: We report a novel mutation in AGel amyloidosis with renal involvement. This case highlights the importance of renal biopsy, mass spectrometry analysis, and genetic testing in establishing a definitive diagnosis. It expands the known spectrum of GSN gene mutations and further supports the heterogeneity of the AGel amyloidosis phenotype.