Nephron最新文献

Introduction: IgG4-related disease (IgG4-RD) is an immune-mediated fibroinflammatory disease that can affect nearly every organ system, including blood vessels and the kidney. IgG4-related vascular lesions mainly involve the aorta, and the dominant renal manifestation is tubulointerstitial nephritis (TIN). Here, we report a case of IgG4-RD demonstrating extensive abdominal periarteritis and membranous nephropathy (MN).

Case presentation: The patient was a 71-year-old man with peptic ulcer who developed nephrotic syndrome, with a low serum albumin level (1.8 g/dL), massive urinary protein (6.1 g/day), and high serum IgG4 level (435 mg/dL). Computed tomography images revealed soft tissue mass around the medium-sized abdominal arteries. Renal pathological findings showed MN and focal infiltration of numerous IgG4-positive cells in the interstitium. The findings of high serum IgG4 levels, periarteritis, and focal inflammation with rich IgG4-positive plasma cells led to the diagnosis of IgG4-RD. We chose low-dose steroid therapy to prevent the recurrence of the peptic ulcer and aneurysm formation in the affected arteries, which can occur with medium to high doses of prednisolone. We successfully controlled IgG4-related periarteritis and kidney disease without relapse or complications.

Conclusion: The varied clinical manifestations of IgG4-RD sometimes make the diagnosis challenging. However, clinicians should diagnose IgG4-RD based on serological, radiological, and pathological evaluations because, without appropriate therapy, IgG4-RD can lead to irreversible organ failure caused by swelling, obstruction, or fibrosis of the organs.

Introduction: Sepsis-associated acute kidney injury (SA-AKI) is a common complication of sepsis. miR-340-5p has been identified as an effective biomarker of various human diseases. As the downstream target, the involvement of lysine (K)-specific demethylase 4C (KDM4C) in SA-AKI would help interpret the regulatory mechanism of miR-340-5p. The significance of miR-340-5p in the onset and progression of SA-AKI was evaluated to provide a potential therapeutic target for SA-AKI.

Methods: This study enrolled 64 healthy individuals (control) and 159 sepsis patients (92 SA-AKI and 67 non-AKI) and collected urine samples. The urine level of miR-340-5p was analyzed by PCR, and a series of statistical analyses were conducted to assess the clinical significance of miR-340-5p in the occurrence and development of SA-AKI. The injured renal tubular epithelial cells were established with LPS induction. The roles of miR-340-5p in cellular processes were evaluated.

Results: Increasing urine miR-340-5p discriminated SA-AKI patients from healthy individuals (AUC = 0.934) and non-AKI sepsis patients (AUC = 0.806) sensitively. Additionally, elevated miR-340-5p could predict the adverse prognosis (HR = 5.128, 95% CI = 1.259-20.892) and malignant development of SA-AKI patients. In vitro, lipopolysaccharide (LPS) also induced an increased level of miR-340-5p and significant cell injury in the renal tubular epithelial cell; silencing miR-340-5p could alleviate the suppressed proliferation, migration, and invasion caused by LPS. In mechanism, miR-340-5p negatively regulated KDM4C, which mediated the function of miR-340-5p.

Conclusion: miR-340-5p served as a diagnostic and prognostic biomarker of SA-AKI and regulated renal tubular epithelial cell injury via modulating KDM4C.

The combination of nephrotic syndrome with mild histopathological lesions of IgA nephropathy is considered by some as a special form of IgA nephropathy with superimposed minimal change disease (MCD) while by others as a coincidental deposition of IgA in patients with MCD (MCD-IgAN). We present the first case of complete remission of nephrotic syndrome in a 55-year-old man with MCD-IgAN after the administration of a targeted-release formulation of budesonide (TRF-budesonide). The patient's treatment with TRF-budesonide, even though methylprednisolone, mycophenolate mofetil, and cyclophosphamide had been previously tried, is of particular importance because it not only suggests that TRF-budesonide appears to be a promising treatment for MCD-IgAN but may also provide a new therapeutic option for patients with podocytopathies.

Introduction: Adherence to fluid restriction is an essential component of haemodialysis (HD) self-management, although educational interventions are rarely adjusted to meet a person's health literacy abilities. This study aimed to evaluate the feasibility of a person-centred intervention to improve fluid adherence in adults receiving HD.

Methods: A pragmatic, clustered, randomised control feasibility trial involved adults receiving HD for at least 3 months. The control group received standard care while the intervention group received standard care plus a 12-week self-management program that included 4 face-to-face individual teach-back sessions. Randomisation was based on HD treatment shifts. Primary outcomes were acceptability and feasibility (recruitment, retention, and completion rates) and secondary outcomes included patient-reported measures (knowledge, self-efficacy, health literacy, health-related quality of life [HRQoL]) and clinical outcomes (interdialytic weight gain [IDWG] and blood pressure [BP]).

Results: The recruitment rate was 53.2% (50/94 screened) with participants (mean age 51 years, SD = 12.52) randomly allocated to intervention (n = 25) and control groups (n = 25). Overall, patient-reported outcome completion rates at baseline and 12 weeks were 88% and 90%, respectively. Retention rates for the intervention and control groups were 96% and 92%, respectively. There were no between group differences at baseline. At 12 weeks, significant improvements were found in the intervention group for knowledge, self-efficacy, health literacy, self-care index, and IDWG, but not HRQoL. The study found mixed results for BP.

Conclusion: This intervention was feasible and acceptable to deliver in the clinical setting during HD treatment and has the potential to improve health outcomes for adults on HD.

Introduction: Middle-aged and older individuals often face significant challenges in adopting digital health solutions, leading to a digital divide that hinders their ability to benefit from mobile health (mHealth) interventions. This study aimed to investigate the specific requirements of middle-aged and older patients with chronic kidney disease (CKD) for self-management through mobile health applications (mHealth apps), using the Kano model.

Methods: A multicenter cross-sectional survey was conducted from April to September 2023 in five hospitals across Sichuan, Shandong, Guangdong, and Shaanxi provinces in China. The Kano model was employed to analyze participants' preferences regarding mHealth apps for self-management.

Results: Out of 359 participants (57.1% men, predominantly aged 45-54), the study identified essential and desirable features for mHealth apps. Essential attributes include comprehensive CKD information and robust privacy protection. Key to enhancing user satisfaction is features like symptom and medication management, access to medical insurance information, and app interface simplicity. Additional attractive features for increasing app appeal include diet management, exercise guidance, and customizable text size.

Conclusion: This study identifies critical mHealth app features for self-management in middle-aged and older CKD patients, emphasizing the importance of user-centric design. The findings provide valuable insights for app developers to create tailored solutions that cater to the specific needs of this demographic, potentially enhancing their self-management capabilities.

Introduction: Peritoneal dialysis (PD) provides a sense of control, independence, freedom, and self-efficacy. However, it can also impact a patient's physical, psychological, and social well-being, affecting both patients and family members. This study aimed to investigate the experiences and needs of adults on PD and their informal caregivers to understand how a person-centred approach can improve the response to their needs.

Methods: This is a generic descriptive qualitative research study. Data were collected through semi-structured interviews, transcribed, and analysed using Braun and Clarke's thematic analysis and NVivo® software. The data of patients and caregivers were triangulated to better understand their needs.

Results: Twelve patients and four informal caregivers were interviewed. We identified five macro-themes: "living with kidney disease and PD and its needs," "preparation before initiating PD and its needs," "learning about PD and its needs," "impact of dialysis on the need of the patients and caregivers," and "experiences with the care team." The pre-dialysis period is crucial, with specific needs for information, education, shared decision-making, and support during the various psychological, physical, and organisational changes in treatment and the disease trajectory. Caregivers' roles are essential and should always be included in the care path.

Conclusion: This study emphasises the importance of continuity in care for patients with their care team and how delicate and important the pre-dialysis phase is for informed and shared decision-making regarding kidney replacement treatment. This understanding can help ensure a more person-centred care approach.

Introduction: Renal complications are frequently observed in patients with ankylosing spondylitis (AS), with IgA nephropathy (IgAN) being a particularly significant concern. Although anecdotal evidence suggests a potential association between AS and IgAN, robust epidemiological data remain limited. Previous studies have reported varying prevalence rates of IgAN among AS patients, but these studies are often constrained by small sample sizes and inconsistent methodologies. Establishing a causal relationship between AS and IgAN through conventional observational studies has proven challenging due to confounding factors and reverse causality. Mendelian randomization (MR) offers a promising alternative, utilizing genetic variants to explore causal relationships. This study employs MR combined with bioinformatics analysis to investigate the molecular link between AS and IgAN, aiming to identify potential therapeutic targets.

Methods: Two publicly available datasets were utilized: a genome-wide association study (GWAS) of AS (dataset ID: ebi-a-GCST005529) with 9,069 AS cases and 13,578 controls, and IgAN data from the FinnGen project, which included 653 cases and 411,528 controls. Instrumental variables were selected based on stringent criteria. MR analysis was conducted using the inverse variance weighted, weighted median, and MR-Egger methods to assess the causal relationship between AS and IgAN. Reverse MR analysis and sensitivity analysis were conducted to validate the findings. Bioinformatics analysis involved acquiring gene expression data from the GEO database and identifying differentially expressed genes (DEGs) using the limma package. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, protein-protein interaction (PPI) network construction, and hub gene identification were performed to elucidate the biological functions involved.

Results: A total of 24 independent single-nucleotide polymorphisms (SNPs) associated with AS were identified through stringent SNP selection. MR analysis revealed a protective causal relationship between AS and IgAN (odds ratio = 0.552, 95% confidence interval, 0.339-0.900; p = 0.017). Analysis of DEGs identified 332 DEGs for IgAN and 5,521 DEGs for AS, with 59 common DEGs shared between the two diseases. Functional enrichment analysis highlighted significant changes in biological processes, cellular components, molecular functions, and KEGG pathways. PPI network analysis identified eight hub genes, including CX3CR1, which links AS and IgAN. External validation confirmed CX3CR1 as a crucial gene associated with both diseases.

Conclusion: This study provides evidence of a protective causal relationship between AS and IgAN using MR analysis. Furthermore, bioinformatics analysis identifies CX3CR1 as a key gene, suggesting its role in mediating the protective link between AS and IgAN. These find

Background: Clinical findings in Fabry disease have classically been attributed to loss-of-function variants in the GLA gene that result in α-galactosidase A deficiency, intracellular accumulation of globotriaosylceramides and clinical manifestations. However, over time, increasing number of patients have been identified with GLA variants causing either non-classic Fabry disease or having unclear clinical effects. Summary: Searching for additional etiologic and lysosomal storage-independent factors, investigators have recently identified that certain missense GLA variants not only affect enzymatic activity, but also encode for misfolded α-galactosidase A that itself induces chronic endoplasmic reticulum stress and the unfolded protein response. Thus, Fabry disease pathogenesis may be caused by decreased enzymatic activity as well as cellular toxicity from accumulation of the misfolded α-galactosidase A protein, with the contribution of each factor determined by the type of the genetic variant and host factors. Key Messages: Defective proteostasis and misfolding of certain missense α-galactosidase A variants induce chronic endoplasmic reticulum stress and the unfolded protein response that may contribute to intra-familial and inter-familial variation in disease penetrance and clinical expressivity. Pharmacologic modulation of defective proteostasis may have therapeutic implications in Fabry disease.