BMC Nephrology最新文献

{"title":"A young male with kidney damage from genetic mitochondrial disease: case report and literature review.","authors":"Miao Jia, Qian Wu, Jun Zou, Donghua Jin","doi":"10.1186/s12882-026-05238-9","DOIUrl":"10.1186/s12882-026-05238-9","url":null,"abstract":"<p><strong>Background: </strong>The most familiar ear and kidney syndrome is Alport syndrome for a nephrologist. Mutations in the mitochondrial gene MT-TL1, which encodes UUR, can also cause renal dysfunction and hearing loss. In this study, we reported a young Chinese male presented with proteinuria and renal dysfunction with a morphological presentation of focal segmental glomerulosclerosis (FSGS) with m.3243 A > G mutation in the mitochondria in the mitochondrial gene MT-TL1. We conducted a systematic literature review to summarize previously reported cases.</p><p><strong>Case presentation: </strong>A 17-year-old male was admitted to our hospital due to foamy urine that had persisted for three months after an upper respiratory tract infection. He also complained of weakness in both lower extremities, particularly the calves. He had progressive hearing loss and body hair growth in the last two years.His urinalysis revealed 2 + proteinuria and 24-hour urine protein of 0.85 g.His blood tests revealed increased serum creatinine of 2.1 mg/dl, blood urea nitrogen of 36.1 mg/dl, and uric acid of 12.5 mg/dl. His fasting blood glucose was within the normal range of 99 mg/dl. Renal biopsy pathology revealed changes consistent with FSGS.High-power microscopy demonstrated swollen podocytes and an increased number of dysmorphic mitochondria within renal tubular epithelial cells. Consequently, whole-exome sequencing was performed, confirming that both the patient and her mother harbor the m.3243 A > G mutation in the mitochondrial MT-TL1gene.We provide patients with treatments to improve mitochondrial energy synthesis, reduce creatinine production, promote creatinine excretion, and lower uric acid levels.After a 23-month follow-up, renal function remained stable.</p><p><strong>Conclusion: </strong>The UUR gene is an important tRNA gene in mtDNA. Its mutation can lead to mitochondrial dysfunction and cause a variety of diseases.The family history of patients with concurrent ear and renal diseases should be assessed in detail.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13520176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148839235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between the rate of decline in residual kidney function and technique failure in patients undergoing peritoneal dialysis: a retrospective cohort study.","authors":"Yulin Xu, Xiaoqin Liu, Shuwang Ge, Ying Yao","doi":"10.1186/s12882-026-05210-7","DOIUrl":"https://doi.org/10.1186/s12882-026-05210-7","url":null,"abstract":"<p><strong>Background: </strong>Preservation of residual kidney function (RKF) is critical for patients undergoing peritoneal dialysis (PD). However, the relationship between the rate of RKF decline (RKF slope) and PD technique failure remains incompletely understood, and a clinically actionable threshold is lacking.</p><p><strong>Method: </strong>This was a single-centre, retrospective cohort study that included 539 patients who underwent peritoneal dialysis catheter placement at the hospital from 1 May 2006 to 31 December 2022. The primary analysis used pre‑specified Cox models to assess the association between RKF decline rate and technique failure (death or transfer to HD). RCS analysis and Kaplan‑Meier curves were also performed.</p><p><strong>Results: </strong>During a median follow‑up of 30 months, 152 patients (28.2%) in the full cohort experienced technique failure. The median RKF decline rate was -0.14 ml/min/1.73 m² /month (IQR -0.20 to -0.08). Faster RKF decline was independently associated with a higher risk of technique failure (per 0.1 ml/min/1.73 m² /month: HR = 1.19, 95% CI 1.05-1.34, p < 0.001). RCS analysis revealed a nonlinear relationship (p = 0.047) with a candidate threshold at -0.20. Patients with decline faster than -0.20 had significantly lower technique failure‑free survival (log‑rank p = 0.027).</p><p><strong>Conclusion: </strong>There was a nonlinear relationship between the rate of decline in residual kidney function (RKF slope) and the risk of PD patients experiencing technique failure, with a candidate threshold of -0.20 ml/min/1.73 m² /month. Regularly monitoring the decline in RKF and maintaining it above -0.20 ml/min/1.73 m² /month may help identify patients at higher risk of technique failure, although external validation is needed.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149262651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Presumably recurrent Ureaplasma parvum infection in a female peritoneal dialysis patient: a case report and literature review.","authors":"Yi Lv, Chen Ye, Huanhuan Cao, Chun Zhang, Yumei Wang, Huajun Jiang","doi":"10.1186/s12882-026-05254-9","DOIUrl":"10.1186/s12882-026-05254-9","url":null,"abstract":"<p><strong>Background: </strong>Peritoneal dialysis-associated peritonitis (PDAP) caused by Ureaplasma parvum (U. parvum) is exceedingly rare, and its diagnosis is particularly challenging due to the organism's biological characteristics and the limitations of conventional detection methods. To date, only sporadic case reports are available, but the diagnostic processes and clinical characteristics of PDAP caused by U. parvum infection have not been comprehensively reported yet.</p><p><strong>Case presentation: </strong>We report a 35-year-old female patient undergoing continuous ambulatory peritoneal dialysis (CAPD) who experienced three episodes of peritonitis within a six-month period. Despite empirical antibiotic therapy leading to clinical improvement, routine microbiological cultures of the dialysate remained negative during each episode. During the third episode, metagenomic next-generation sequencing (mNGS) of the peritoneal dialysis (PD) effluent finally detected U. parvum as the causative pathogen. Following removing a potential risk factor, an intrauterine device (IUD), and adjusting the antimicrobial therapy to intraperitoneal (IP) levofloxacin and oral azithromycin, the patient achieved complete recovery and successfully resumed PD. Based on this experience, we documented the characteristic clinical profile of such infections and proposed an exploratory clinical diagnosis and treatment flowchart.</p><p><strong>Conclusions: </strong>Patients with recurrent culture-negative PDAP, especially female with an IUD, should be evaluated for U. parvum infection as a potential pathogen. mNGS facilitates the rapid detection of pathogens that traditional methods may fail to identify. Effective management of such infections necessitates not only targeted antimicrobial therapy guided by precise pathogen identification, but also the removal of potential risk factors such as the IUD.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13525671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic potential of amino acid-based peritoneal dialysis solutions: a systematic review.","authors":"Bengt Lindholm, Antoine Barbari, Jennifer Allen, Inès Dufour, Donald Fraser, Annette Heider, Rumeyza Kazancioglu, Monika Lichodziejewska-Niemierko, Anabela Malho-Guedes, Loris Neri, Alena Parikova, Juan Carlos Quevedo-Reina, Adonay Santana-Quintana, Udaya Udayaraj","doi":"10.1186/s12882-026-05222-3","DOIUrl":"10.1186/s12882-026-05222-3","url":null,"abstract":"<p><p>Peritoneal dialysis (PD) offers many advantages over hemodialysis but chronic exposure to bio-incompatible glucose-based PD solutions and continuous absorption of glucose from the dialysate may lead to peritoneal membrane (PM) dysfunction and systemic metabolic complications such as hyperglycemia, insulin resistance, dyslipidemia, and obesity. Replacing one daily exchange of 1.36% glucose-based solution with one 1.1% amino acid-based PD solution may provide nutritional benefits of amino acid supplementation, improve biocompatibility, and reduce the peritoneal glucose load while maintaining similar ultrafiltration and solute removal capacity. Randomized clinical trials and mechanistic studies show beneficial effects of amino acid-based PD solutions on peritoneal homeostasis, preserved viability of the PM, and favorable nutritional and metabolic effects. This systematic review highlights the clinical rationale for implementing use of amino acid-based PD solutions as an integral part of glucose-sparing strategies in PD to reduce the cumulative intraperitoneal glucose load and mitigate its well-documented adverse effects. Amino acid-based PD solutions emerge as a clinically viable, glucose-free alternative and a nutritionally beneficial option that can improve the nutritional status of PD patients by providing essential amino acids when used as part of a comprehensive glucose-sparing strategy. Targeted use of these solutions, particularly in malnourished or high-risk patients, represents a personalized approach to optimizing peritoneal dialysis outcomes.Clinical trial number: Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13428450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148648283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic value of the neutrophil percentage-to-albumin ratio in patients with IgA nephropathy.","authors":"Shuo Li, Yan Huang, Meiran Cao, Jingfu Wang","doi":"10.1186/s12882-026-05235-y","DOIUrl":"https://doi.org/10.1186/s12882-026-05235-y","url":null,"abstract":"<p><p>The neutrophil percentage-to-albumin ratio (NPAR) has emerged as a biomarker for systemic inflammation; however, its association with the prognosis of IgA nephropathy (IgAN) remains unclear. In this retrospective cohort study, we aimed to evaluate the relationship between NPAR and IgAN and enrolled 389 patients with biopsy-proven primary IgAN treated at the Affiliated Hospital of Chengde Medical University between January 2013 and July 2024. Baseline demographic, clinical, and pathological data were collected. The NPAR was calculated as neutrophil percentage (NEUT%) × 100 / albumin (g/dL). The optimal cut-off value of the NPAR for predicting end-stage renal disease (ESRD) was determined using receiver operating characteristic (ROC) curve analysis; the patients were divided into high and low NPAR groups accordingly. The ROC curve showed that the optimal cut-off value of the NPAR for predicting ESRD was 18.54, with an area under the curve of 0.670 (sensitivity 55.3%, specificity 74.6%). Patients in the high NPAR group were significantly older and had a higher prevalence of anemia, as well as higher NEUT%, 24-h UPE, and incidence of ESRD, whereas eGFR and albumin levels were significantly lower (all P < 0.05); pathologically, they were more prone to endocapillary hypercellularity (E1) and tubular atrophy/interstitial fibrosis (T1-2) (P < 0.05). Correlation analysis showed that the NPAR was positively correlated with age, anemia, 24-hour urine protein, E lesion, and T lesion, and negatively correlated with eGFR (all P < 0.05). Multivariate Cox regression analysis demonstrated that an NPAR ≥ 18.54 was an independent risk factor for progression to ESRD in IgAN patients (HR = 2.176, 95%CI: 1.058～4.472, P = 0.034). Subgroup analysis showed that NPAR demonstrated a consistent prognostic discriminative trend across most subgroups, whereas no significant predictive effect was observed in the M0 subtype. Restricted cubic splines (RCS) suggested a linear positive correlation between NPAR and ESRD risk (P for non-linearity = 0.5569). An elevated NPAR is independently associated with severe clinicopathological features and poor renal prognosis in patients with IgAN. As a convenient and cost-effective inflammatory marker, given its limited discriminative ability (AUC = 0.670), NPAR can only serve as an auxiliary reference in clinical assessment, and its practical value requires further external validation.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149262654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Meta-analysis of the effectiveness of nursing interventions in the care of adult patients with kidney failure.","authors":"Min Guo, Xiaomei Han, Xiaomin Xu","doi":"10.1186/s12882-026-05239-8","DOIUrl":"https://doi.org/10.1186/s12882-026-05239-8","url":null,"abstract":"<p><strong>Background: </strong>Numerous nursing interventions have the potential to improve clinical outcomes in individuals with kidney failure; however, their effectiveness can vary. Therefore, it is essential to systematically review and synthesize the evidence regarding these interventions. This research sought to evaluate the effectiveness of various nursing interventions in enhancing clinical outcomes in adult patients with kidney failure.</p><p><strong>Methods: </strong>An extensive literature review was performed across five databases utilizing two distinct keyword sets up to May 2026. The study design was structured according to the Population, Intervention, Comparator, and Outcome (PICO) framework. Studies that did not meet the established inclusion criteria were excluded from the analysis.</p><p><strong>Results: </strong>This review encompassed a total of 142 studies. The findings indicate that a variety of nursing interventions can significantly improve health outcomes for patients with kidney failure. Notably, high-quality nursing care and comprehensive nursing programs demonstrated the greatest efficacy. Additionally, interventions such as shared-care models, educational nursing approaches, music therapy, telephone-based support, and self-care strategies-despite their relatively low cost-also contributed to patient improvement. The meta-analysis revealed that nursing interventions significantly increased patient satisfaction compared to control groups [2.71 (95% Confidence Interval: 1.72-3.70)] and reduced complication rates compared to control groups [-7.39 (95% Confidence Interval: -11.48 to - 3.31)].</p><p><strong>Conclusion: </strong>The findings of this review highlight that various nursing interventions can positively influence outcomes in adult patients. Future research should focus on developing a comprehensive model and rigorously evaluating its effectiveness.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149262638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and safety of anrikefon in the treatment of diabetic hemodialysis patients with pruritus: a post hoc analysis.","authors":"Zuo-Lin Li, Zhu-Yu Li, Ming-Ming Pan, Bi-Cheng Liu","doi":"10.1186/s12882-026-05216-1","DOIUrl":"https://doi.org/10.1186/s12882-026-05216-1","url":null,"abstract":"<p><strong>Background: </strong>Diabetic kidney disease (DKD) is a leading cause of chronic kidney disease worldwide and diabetes predisposes patients to pruritus. Anrikefon is a novel selective peripherally restricted kappa-opioid receptor agonist. This post hoc analysis utilized data from phase 3 anrikefon-302 study to investigate the efficacy and safety of anrikefon in the treatment of diabetic hemodialysis patients with pruritus.</p><p><strong>Methods: </strong>This is a post hoc analysis of data collected in a randomized, placebo-controlled phase 3 study. Diabetic hemodialysis patients were included (anrikefon n = 67 and placebo n = 79). The percentage of patients achieving at least a 4-point or 3-point reduction in weekly mean 24 hour worst itching intensity numerical rating scale (WI-NRS) score from baseline to week 12 were analyzed. The changes in itch related quality of life from baseline using the Skindex-10 and 5-D itch scales were also compared.</p><p><strong>Results: </strong>The baseline demographics and characteristics were generally similar in the individual placebo and anrikefon treatment arms. Interestingly, significantly more patients reported a clinically meaningful ≥ 4-point (29.9% versus 15.2%; p = 0.033) and ≥3-point (41.8% versus 20.3%; p = 0.012) reduction from baseline to week 12 in WI-NRS for the anrikefon group versus placebo. Furthermore, the change in WI-NRS score was significantly greater in patients receiving anrikefon treatment than in those in the placebo control group [-2.86 (SE 0.26) versus -1.63 (SE 0.21); p = 0.001]. Moreover, the mean change from baseline in the Skindex-10 itch score at week 12 was -16.25 (SE 1.52) in the anrikefon group and -8.49 (SE 1.36) in the placebo group (p < 0.001). The mean change from baseline in the 5-D itch score at week 12 was -5.41 (SE 0.45) in the anrikefon group and -3.20 (SE 0.38) in the placebo group. Moreover, the incidence of treatment emergent adverse events was comparable between the two groups.</p><p><strong>Conclusions: </strong>Anrikefon resulted in a noticeable reduction in itch intensity and an improvement in itch related quality of life in diabetic hemodialysis patients with pruritus.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13628860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic performance and inter-observer reproducibility of glomerular PLA2R immunohistochemistry in primary membranous nephropathy: a multi-laboratory blinded observer study.","authors":"Birgitte G Tougaard, Søren Krag, Eva Gravesen, Mie Emilie Kristensen, Kirsten Madsen, Lene Buhl Riis, Dorrit Krustrup, Per Ivarsen","doi":"10.1186/s12882-026-05233-0","DOIUrl":"10.1186/s12882-026-05233-0","url":null,"abstract":"<p><strong>Background: </strong>PLA2R immunohistochemistry (IHC) and serum anti-PLA2R antibodies are key diagnostic tools in PLA2R-associated membranous nephropathy (MN). However, diagnostic performance and inter-observer reproducibility of PLA2R IHC across different laboratory protocols and cut-offs remain insufficiently validated. We performed local validation of two routine PLA2R IHC protocols and report the methodological considerations that emerged, including the interaction between cut-off selection, diagnostic accuracy, and observer reproducibility.</p><p><strong>Methods: </strong>In a multi-laboratory study, kidney biopsies from patients with primary MN (pMN), secondary MN, and non-MN controls were stained using two routine PLA2R IHC protocols (Aarhus University Hospital [AUH] and Herlev Hospital [HEH]). Seven blinded observers scored granular capillary wall staining intensity on a 0-3 scale. Diagnostic performance was assessed at a prespecified cut-off (≥ 2) and at protocol-specific optimal cut-offs determined by Youden's J index. Inter-observer agreement for the ordinal scale was quantified using intraclass correlation coefficients (ICC). Reproducibility of dichotomized classifications was evaluated using the ONEST framework, examining overall percent agreement (OPA) across increasing numbers of observers.</p><p><strong>Results: </strong>At the prespecified cut-off (≥ 2), sensitivity/specificity was 70%/70% for AUH and 55%/100% for HEH. Applying Youden's J calculated optimal cut-offs (AUH: ≥3; HEH: ≥1) yielded sensitivity/specificity of 65%/100% for AUH and 65%/93% for HEH. Single-rating reliability was good-to-excellent overall [ICC (2,1) = 0.85], with protocol-specific differences (AUH = 0.78; HEH = 0.93), and the seven-observer panel demonstrated excellent reliability [ICC (2,7) = 0.96-0.99]. ONEST analyses demonstrated higher agreement for HEH at the prespecified cut-off (OPA 93% vs. 60%) and earlier stabilization of agreement curves, whereas AUH remained sensitive to panel size throughout the seven-observer range. Diagnostic accuracy and reproducibility were not fully aligned for the HEH protocol: Youden's J favored cut-off ≥ 1, whereas reproducibility was highest at ≥ 2.</p><p><strong>Conclusion: </strong>PLA2R IHC provides clinically useful diagnostic information for PLA2R-associated MN, but performance and reproducibility are protocol-dependent and were optimized at different cut-offs. Laboratories should therefore validate both dimensions locally rather than adopting a single fixed cut-off. We propose a stepwise framework combining Youden's J and ONEST as a practical guide for laboratories implementing PLA2R IHC.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13463983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term donor and graft safety despite subclinical mitochondrial abnormalities: mechanistic insights from a 22-year follow-up of a carrier-to-MELAS kidney transplant.","authors":"Shizuka Kobayashi, Tomokazu Shimizu, Shun Manabe, Momoko Seki, Yusuke Ushio, Rina Takahashi, Shiho Makabe, Naoko Ito, Kohei Unagami, Hiroshi Kataoka, Sekiko Taneda, Toshihiro Hirai, Kazuho Honda, Kosaku Nitta, Toshio Takagi, Hideki Ishida, Junichi Hoshino","doi":"10.1186/s12882-026-05236-x","DOIUrl":"https://doi.org/10.1186/s12882-026-05236-x","url":null,"abstract":"<p><strong>Background: </strong>Ideally, deceased donor kidney transplantation is preferred for patients with mitochondrial nephropathy caused by the m.3243 A > G mutation to avoid genetic risks. However, in regions where deceased donation is limited and living donation predominates, such as Japan, family members are often the only available donors. The safety of using maternal relatives, who are obligate carriers of the mutation, remains highly controversial due to the risk of unmasking renal failure in both the donor and the allograft.</p><p><strong>Case presentation: </strong>We report a 22-year follow-up of an inadvertent living kidney transplant from a 55-year-old mother to her 26-year-old daughter. The recipient presented with MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) and end-stage kidney disease due to focal segmental glomerulosclerosis (FSGS), with the m.3243 A > G mutation confirmed prior to transplantation. Conversely, the donor mother was phenotypically normal regarding renal function without diabetes, and conventional genetic testing at the time failed to detect the mutation. Consequently, the recipient's mutation was presumed to be de novo, allowing the donation to proceed. Notably, the donor's zero-hour allograft biopsy revealed ultrastructural mitochondrial abnormalities but no overt light microscopic damage (i.e., no FSGS). At 22 years post-transplant, both the recipient's graft function (serum creatinine 1.16 mg/dL, albuminuria 5.0 mg/gCr) and the donor's remaining kidney function (serum creatinine 0.98 mg/dL, albuminuria 10.4 mg/gCr) remain excellent. Current highly sensitive genetic analysis revealed an extremely low blood heteroplasmy in the donor (0.1%) compared to 20% in the recipient, demonstrating a severe \"genetic bottleneck\" effect. Furthermore, the recipient's older sister was found to have a 4% mutational load, definitively confirming maternal inheritance rather than a de novo mutation.</p><p><strong>Conclusions: </strong>This case represents the longest reported follow-up of a living kidney transplant from an m.3243 A > G carrier. It demonstrates that maternal carriers with extremely low heteroplasmy and no light microscopic evidence of overt renal damage on biopsy can be safe donors and provide excellent long-term graft outcomes. Precise risk stratification based on genotype and biopsy findings, rather than uniform exclusion, may expand transplant options.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149262648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning-based prediction of postoperative continuous renal replacement therapy initiation after open thoracoabdominal aortic repair.","authors":"Kai Xu, Jiang Liu, Yumeng Ji, Jian Song, Shiqi Gao, Chenyu Zhou, Juntao Qiu, Cuntao Yu","doi":"10.1186/s12882-026-05234-z","DOIUrl":"10.1186/s12882-026-05234-z","url":null,"abstract":"<p><strong>Background: </strong>Postoperative continuous renal replacement therapy (CRRT) initiation for severe acute kidney injury is a clinically consequential complication after open thoracoabdominal aortic repair. We aimed to develop an interpretable machine-learning (ML) model for predicting postoperative CRRT in this high-risk population.</p><p><strong>Methods: </strong>This single-center retrospective cohort study included consecutive adult patients who underwent open thoracoabdominal aortic repair between January 2010 and December 2025. After exclusions, 372 patients were analyzed, including 66 (17.7%) who initiated postoperative CRRT. The cohort was randomly divided into a training set (75%, n = 278) and an internal test set (25%, n = 94). After multistep feature selection, six routinely available perioperative predictors were retained. Eight ML models and a baseline logistic regression model were developed. Model interpretability was assessed using SHapley Additive exPlanations (SHAP).</p><p><strong>Results: </strong>In bootstrap internal validation, Light Gradient Boosting Machine showed the highest optimism-corrected AUC of 0.814 (95% CI, 0.773-0.856) and the lowest optimism-corrected Brier score of 0.131 (95% CI, 0.112-0.150). However, performance differences among several models were modest. LightGBM was therefore selected for interpretation in this internally validated dataset. SHAP analysis identified surgery duration, D-dimer, serum creatinine, intraoperative red blood cell transfusion, maximum intraoperative lactate, and Crawford extent II as important contributors to predicted CRRT risk.</p><p><strong>Conclusions: </strong>A parsimonious LightGBM model showed favorable internally validated performance for predicting postoperative CRRT after open thoracoabdominal aortic repair. Given the single-center design, limited event number, and lack of external validation, the model should be considered exploratory and requires external validation and potential recalibration before clinical implementation.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"27 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13543461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148886332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}