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Acute Effects of Exercise on the Nephron Index under Different Conditions in Middle-Aged Males: A Preliminary Study. 不同条件下运动对中年男性肾单位指数急性影响的初步研究。
IF 2.3 4区 医学
Nephron Pub Date : 2026-06-18 DOI: 10.1159/000552697
Shotaro Kawakami, Tetsuhiko Yasuno, Saki Kawakami, Ai Ito, Kanta Fujimi, Takuro Matsuda, Shihoko Nakashima, Kosuke Masutani, Yoshinari Uehara, Yasuki Higaki, Ryoma Michishita
{"title":"Acute Effects of Exercise on the Nephron Index under Different Conditions in Middle-Aged Males: A Preliminary Study.","authors":"Shotaro Kawakami, Tetsuhiko Yasuno, Saki Kawakami, Ai Ito, Kanta Fujimi, Takuro Matsuda, Shihoko Nakashima, Kosuke Masutani, Yoshinari Uehara, Yasuki Higaki, Ryoma Michishita","doi":"10.1159/000552697","DOIUrl":"10.1159/000552697","url":null,"abstract":"<p><strong>Background: </strong>The nephron index provides a noninvasive and theoretical estimate of the functional nephrons based on the assumption that serum fibroblast growth factor 23 (FGF23) concentrations correlate with phosphate excretion per functional nephron. This study aimed to investigate the effects of exercise on the nephron index under different conditions.</p><p><strong>Methods: </strong>Nine middle-aged adults performed exercise under 3 experimental conditions: moderate-intensity continuous exercise (MICE), high-intensity intermittent exercise (HIIE), and moderate-intensity intermittent exercise (MIIE). Blood and urine samples were collected before exercise, immediately after exercise, and 60 min post-exercise. The nephron index was assessed using blood and urine phosphate and creatinine concentrations, serum FGF23 levels, and the estimated glomerular filtration rate.</p><p><strong>Results: </strong>A significant time effect was observed for the log-transformed nephron index (p = 0.012, <mml:math id=\"m1\" xmlns:mml=\"http://www.w3.org/1998/Math/MathML\"><mml:mrow><mml:msubsup><mml:mi>η</mml:mi><mml:mi mathvariant=\"normal\">p</mml:mi><mml:mn>2</mml:mn></mml:msubsup></mml:mrow></mml:math> = 0.42). The log-transformed nephron index increased immediately after exercise (p = 0.059) and 60 min post-exercise (p = 0.008) across MICE, HIIE, and MIIE conditions. Additionally, urinary fractional excretion of phosphate (defined as the ratio of phosphate to creatinine clearance) significantly increased at 60 min post-exercise across all conditions (p = 0.038). These findings suggest that a single bout of exercise may result in acute beneficial effects on renal microcirculation.</p><p><strong>Conclusions: </strong>These results suggest that a single bout of exercise may influence nephron responsiveness in middle-aged individuals. However, as this is a preliminary study, further investigations are warranted to confirm the physiological relevance of the nephron index under dynamic conditions.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-10"},"PeriodicalIF":2.3,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148278053","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}
引用次数: 0
Lysozyme-Associated Nephropathy in Myeloid Neoplasms: A Clinicopathological and Mass Spectrometric Study of Two Cases. 髓系肿瘤溶菌酶相关肾病:两例临床病理和质谱研究。
IF 2.3 4区 医学
Nephron Pub Date : 2026-06-16 DOI: 10.1159/000553130
Minami Matsumoto, Shinya Yamamoto, Kanna Shinkawa, Takeshi Matsubara, June Takeda, Toshio Kitawaki, Yasuyuki Arai, Yuki Teramoto, Sachiko Minamiguchi, Yukiko Kanetsuna, Kensuke Joh, Yutaka Yamaguchi, Dedong Kang, Kazuho Honda, Akiko Mii, Akira Shimizu, Yoshifumi Ubara, Motoko Yanagita
{"title":"Lysozyme-Associated Nephropathy in Myeloid Neoplasms: A Clinicopathological and Mass Spectrometric Study of Two Cases.","authors":"Minami Matsumoto, Shinya Yamamoto, Kanna Shinkawa, Takeshi Matsubara, June Takeda, Toshio Kitawaki, Yasuyuki Arai, Yuki Teramoto, Sachiko Minamiguchi, Yukiko Kanetsuna, Kensuke Joh, Yutaka Yamaguchi, Dedong Kang, Kazuho Honda, Akiko Mii, Akira Shimizu, Yoshifumi Ubara, Motoko Yanagita","doi":"10.1159/000553130","DOIUrl":"10.1159/000553130","url":null,"abstract":"<p><strong>Introduction: </strong>Lysozyme-associated nephropathy (LyN) is an underrecognized cause of kidney dysfunction, commonly associated with chronic myelomonocytic leukemia (CMML).</p><p><strong>Case presentation: </strong>We present 2 cases of LyN with distinct clinical manifestations. In Case 1, an 80-year-old man with primary myelofibrosis developed progressive monocytosis, kidney dysfunction, proteinuria, and elevated serum and urinary lysozyme levels. Kidney biopsy revealed lysozyme-positive intracytoplasmic granules within proximal tubular cells, confirming the diagnosis of LyN. Notably, the progressive increase in the number of lysozyme-positive bone marrow cells may serve as an indicator of LyN activity. Treatment with hydroxycarbamide, a cytoreductive agent, and ruxolitinib, a Janus kinase inhibitor, successfully stabilized kidney function. In Case 2, a 63-year-old man with CMML developed acute kidney injury. Although the etiology of kidney dysfunction could not be determined during life, autopsy revealed diagnostic features of LyN. To further investigate LyN pathophysiology, we performed the first mass spectrometry-based proteomic analysis of proximal tubules in 2 cases. LyN samples showed marked lysozyme accumulation and upregulation of proteins involved in lysosomal system, lipid metabolism, cellular stress, and chronic inflammation. These findings suggest that chronic lysozyme overload disrupts intracellular homeostasis and contributes to kidney injury.</p><p><strong>Conclusion: </strong>LyN is underdiagnosed as unexplained tubular damage or chronic kidney disease, highlighting the need for awareness of the clinicopathological features.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-7"},"PeriodicalIF":2.3,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13436922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148265491","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}
引用次数: 0
Long-Term Therapy with Eculizumab Biosimilar in Patients with Atypical Haemolytic Uraemic Syndrome: Outcomes of a Prospective Observational Study. Eculizumab生物类似药在非典型溶血性尿毒综合征患者中的长期治疗:一项前瞻性观察研究的结果
IF 2.3 4区 医学
Nephron Pub Date : 2026-06-12 DOI: 10.1159/000552914
Oleg Kotenko, Natalia Kozlovskaya, Khadizha Emirova, Alexander Muzurov, Sergey Moiseev, Irina Konakova, Aleksey Shavkin, Tamara Makarova, Maria Gazizulina, Vladimir Vinogradov, Ekaterina Ivanova, Kseniya Demyanova, Yulia Korotchaeva, Tatiana Proshina, Yulia Melnikova, Lyudmila Рoladova, Yulia Mazur, Oksana Markova, Anton Borozinets
{"title":"Long-Term Therapy with Eculizumab Biosimilar in Patients with Atypical Haemolytic Uraemic Syndrome: Outcomes of a Prospective Observational Study.","authors":"Oleg Kotenko, Natalia Kozlovskaya, Khadizha Emirova, Alexander Muzurov, Sergey Moiseev, Irina Konakova, Aleksey Shavkin, Tamara Makarova, Maria Gazizulina, Vladimir Vinogradov, Ekaterina Ivanova, Kseniya Demyanova, Yulia Korotchaeva, Tatiana Proshina, Yulia Melnikova, Lyudmila Рoladova, Yulia Mazur, Oksana Markova, Anton Borozinets","doi":"10.1159/000552914","DOIUrl":"10.1159/000552914","url":null,"abstract":"<p><strong>Background: </strong>The objective of a multicentre, prospective, observational study of an eculizumab biosimilar (Elizaria®) was to analyse the efficacy and safety of long-term complement inhibitor therapy in patients with atypical haemolytic uraemic syndrome (aHUS).</p><p><strong>Materials and methods: </strong>The study included 50 patients aged 1-55 years, with 42% of them under the age of 18. The patients received the eculizumab biosimilar in routine clinical practice within 56 weeks; 19 patients (38%) had been treated with eculizumab prior to enrolment, whereas 31 patients (62%) were naive to complement inhibitors.</p><p><strong>Results: </strong>By the end of the study, an increase in platelet count of 39.48 ± 21.7 × 109/L and 33.61 ± 24.06 × 109/L was reported in treatment-naive and treatment-experienced patients, respectively. By the end of the study, 96% of treatment-experienced patients and 100% of treatment-naive patients had normal platelet counts. The mean LDH activity did not change significantly, with levels of 253.84 ± 122.22 U/L registered at screening and 245.24 ± 93.52 U/L at the end of the study. In total, 39 patients (77.6%) at week 21 and 40 patients (80%) at week 52 had no thrombotic microangiopathy (TMA) events. During the study, the proportion of patients with a complete TMA response increased significantly, rising to 8% (p = 0.046). The proportion of patients with an estimated glomerular filtration rate improvement of 15 mL/min/1.73 m2 and more at week 52 was 12%. During the safety assessment, 63 adverse events not related to the investigational medicinal product were reported.</p><p><strong>Conclusion: </strong>Long-term complement inhibitor therapy with the eculizumab biosimilar in patients with aHUS has demonstrated a stable effect, a favourable safety profile, and low immunogenicity.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-10"},"PeriodicalIF":2.3,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13436925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148239642","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}
引用次数: 0
Kidney Organoids: Disease Modeling and Clinical Implementations for Patient Benefit. 肾脏类器官:疾病建模和临床实施患者利益。
IF 2.3 4区 医学
Nephron Pub Date : 2026-06-12 DOI: 10.1159/000553059
Elisa Gessaroli, Sara Donini, Jason A Wertheim, Ashwani Kumar Gupta, Lorenzo Gallon
{"title":"Kidney Organoids: Disease Modeling and Clinical Implementations for Patient Benefit.","authors":"Elisa Gessaroli, Sara Donini, Jason A Wertheim, Ashwani Kumar Gupta, Lorenzo Gallon","doi":"10.1159/000553059","DOIUrl":"10.1159/000553059","url":null,"abstract":"<p><strong>Background: </strong>Progress in nephrology is still constrained by the limited ability of conventional experimental models to faithfully recapitulate the complex structure and function of the human kidney. Human pluripotent stem cell-derived kidney organoids provide a three-dimensional in vitro experimental system that allows investigation of kidney development and disease-related mechanisms in a human cellular context, although still limited in their ability to reproduce the full structural and physiological complexity of the native kidney.</p><p><strong>Summary: </strong>Kidney organoids have emerged as a powerful system to investigate both inherited and acquired kidney disorders. Genetic applications include cystic kidney diseases and ciliopathies, as well as inherited tubular and storage disorders, and glomerular genetic diseases. For acquired diseases and injuries, organoids support modeling of kidney damage (including exposure to pathogenetic factors, metabolic, diabetic, and profibrotic stress) and drug nephrotoxicity. These platforms enable research on mechanistic pathways through transcriptomic, proteomic, imaging, and functional readouts that can be applied at the level of specific nephron segments. Methodological advances, including improved differentiation protocols and organoid-on-chip systems, are enhancing maturation and physiological relevance. Nevertheless, kidney organoids remain immature, showing variable cellular composition and lacking a fully integrated vasculature and urinary outflow system, which currently limit their applicability as experimental models.</p><p><strong>Key messages: </strong>Kidney organoids provide a human-based platform for mechanistic and translational nephrology research. At present, kidney organoids are mainly used for disease modeling and nephrotoxicity testing, while their broader applicability remains limited by current technical and biological challenges. Regenerative translation will depend on advances in maturation and integration of fully developed vascular and urinary system components.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-14"},"PeriodicalIF":2.3,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148239479","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}
引用次数: 0
Nonlinear Associations between Glomerular Function and Frailty: A National Study Comparing Glomerular Function Using Cystatin C-Based and Creatinine-Based Estimated Glomerular Filtration Rate in Chinese Middle-Aged and Older Adults. 肾小球功能与虚弱之间的非线性关联:一项比较中国中老年人群肾小球功能的全国性研究,使用胱氨酸抑素c和肌酐为基础的eGFR。
IF 2.3 4区 医学
Nephron Pub Date : 2026-06-10 DOI: 10.1159/000552763
Shunya Yao, Qi Ding
{"title":"Nonlinear Associations between Glomerular Function and Frailty: A National Study Comparing Glomerular Function Using Cystatin C-Based and Creatinine-Based Estimated Glomerular Filtration Rate in Chinese Middle-Aged and Older Adults.","authors":"Shunya Yao, Qi Ding","doi":"10.1159/000552763","DOIUrl":"10.1159/000552763","url":null,"abstract":"<p><strong>Background: </strong>Frailty and chronic kidney disease (CKD) are common, interrelated conditions in ageing populations, yet the association between kidney function and frailty remains incompletely characterized, particularly when estimated using different estimated glomerular filtration rate (eGFR) equations.</p><p><strong>Methods: </strong>We analyzed 17,864 participants aged ≥45 years from the 2011 and 2015 waves of the China Health and Retirement Longitudinal Study (CHARLS). Frailty was defined primarily by the deficit-accumulation frailty index, with the Fried physical frailty phenotype applied in a prespecified sensitivity analysis. Kidney function was estimated using the CKD-EPI creatinine (eGFRcr), cystatin C (eGFRcys), and combined creatinine-cystatin C (eGFRcr-cys) equations. Multivariable logistic regression, restricted cubic splines, and threshold effect models were used to assess linear and nonlinear associations, with adjusted predicted probabilities derived to quantify absolute risk.</p><p><strong>Results: </strong>Overall, 10.0% of participants were frail and 38.6% prefrail. Lower eGFR was independently associated with higher odds of frailty across all three equations, with the strongest and most consistent associations observed for eGFRcys (eGFRcys: <30 vs. ≥90 mL/min/1.73 m2; odds ratios [OR]: 4.39; 95% confidence interval [CI]: 2.32-8.32; p for trend <0.001), corresponding to an adjusted absolute risk difference of 18.9 percentage points. eGFRcr-cys showed similar but attenuated associations, whereas eGFRcr was associated with frailty only at severely reduced levels (<30 mL/min/1.73 m2). Nonlinear relationships were evident for eGFRcys and eGFRcr-cys, with inflection points at 58.78 and 51.65 mL/min/1.73 m2, respectively. Sensitivity analyses using the Fried phenotype and a model excluding laboratory parameters yielded directionally consistent results.</p><p><strong>Conclusion: </strong>Cystatin C-based eGFR was more strongly and consistently associated with frailty than creatinine-based estimates in middle-aged and older Chinese adults, with associations emerging at earlier stages of kidney dysfunction. Incorporating eGFRcys into kidney function assessment in this population may aid the identification of individuals at increased risk of frailty, pending confirmation in longitudinal and interventional studies.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-12"},"PeriodicalIF":2.3,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148218691","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}
引用次数: 0
Proceedings of the 15th Annual UAB-UCSD O'Brien Center Symposium: Changing Paradigms in Acute Kidney Injury - From Mechanisms to Management. 第15届UAB-UCSD O'Brien中心年度研讨会论文集:急性肾损伤的变化范式:从机制到管理。
IF 2.3 4区 医学
Nephron Pub Date : 2026-03-10 DOI: 10.1159/000551374
Javier A Neyra, Monica Vasiliu
{"title":"Proceedings of the 15th Annual UAB-UCSD O'Brien Center Symposium: Changing Paradigms in Acute Kidney Injury - From Mechanisms to Management.","authors":"Javier A Neyra, Monica Vasiliu","doi":"10.1159/000551374","DOIUrl":"10.1159/000551374","url":null,"abstract":"","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-2"},"PeriodicalIF":2.3,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13105412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434357","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}
引用次数: 0
Association between Hemoglobin-To-Red Cell Distribution Width Ratio and Left Ventricular Hypertrophy in Non-Dialysis CKD Stage 3-5 Patients: A Cross-Sectional Study. 非透析CKD 3-5期患者血红蛋白-红细胞分布宽度比与左心室肥厚的关系:一项横断面研究
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-12-16 DOI: 10.1159/000550090
Li Wang, Lin Zhang, Fangfang Xiang, Xiaoqiang Ding, Yi Fang, Wuhua Jiang
{"title":"Association between Hemoglobin-To-Red Cell Distribution Width Ratio and Left Ventricular Hypertrophy in Non-Dialysis CKD Stage 3-5 Patients: A Cross-Sectional Study.","authors":"Li Wang, Lin Zhang, Fangfang Xiang, Xiaoqiang Ding, Yi Fang, Wuhua Jiang","doi":"10.1159/000550090","DOIUrl":"10.1159/000550090","url":null,"abstract":"<p><strong>Introduction: </strong>Left ventricular hypertrophy (LVH) is a common cardiovascular complication in chronic kidney disease (CKD), driven by anemia and nutritional deficiencies. The hemoglobin-to-red cell distribution width ratio (HRR) reflects these factors, but its association with LVH in CKD remains unclear. This study aimed to investigate the relationship between HRR and LVH in non-dialysis CKD stage 3-5 patients.</p><p><strong>Methods: </strong>In this cross-sectional study, 195 patients were included. HRR was calculated from hemoglobin and red cell distribution width. LVH was diagnosed by echocardiography (LV mass index >115 g/m2 in men, >95 g/m2 in women). Logistic regression assessed HRR-LVH association, including subgroup and restricted cubic spline analyses. Mediation analysis explored the role of intact parathyroid hormone (iPTH) and N-terminal pro-brain natriuretic peptide (NT-proBNP).</p><p><strong>Results: </strong>Patients with LVH (n = 40) had significantly lower HRR (median 0.62 vs. 0.81, p < 0.001). HRR was inversely associated with LVH (adjusted OR 0.41 per SD increase, p = 0.005), with the highest HRR tertile showing the lowest LVH risk (adjusted OR 0.23, p = 0.044). Subgroup analyses showed consistent associations. Mediation analysis indicated iPTH and NT-proBNP explained 37% and 21.1% of the HRR-LVH relationship.</p><p><strong>Conclusion: </strong>HRR may be a simple marker for cardiovascular risk stratification in CKD. Prospective studies should assess whether interventions targeting HRR reduce LVH incidence.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"279-290"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768679","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}
引用次数: 0
Successful Living Kidney Donation from Heterozygous Carrier Parents to Siblings with Coenzyme Q8B Nephropathy: Two Case Series. 患有辅酶Q8B肾病的兄弟姐妹从杂合子携带父母成功捐赠活体肾脏:两个病例系列。
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-12-18 DOI: 10.1159/000550059
Keisuke Morita, Risa Nakanishi, Kikuno Ogura, Takahiro Shinzato, Ken Matsuo, Satoshi Tanaka, Minami Matsumoto, Shinya Yamamoto, Hirotsugu Kitayama, China Nagano, Kandai Nozu, Kojiro Nagai
{"title":"Successful Living Kidney Donation from Heterozygous Carrier Parents to Siblings with Coenzyme Q8B Nephropathy: Two Case Series.","authors":"Keisuke Morita, Risa Nakanishi, Kikuno Ogura, Takahiro Shinzato, Ken Matsuo, Satoshi Tanaka, Minami Matsumoto, Shinya Yamamoto, Hirotsugu Kitayama, China Nagano, Kandai Nozu, Kojiro Nagai","doi":"10.1159/000550059","DOIUrl":"10.1159/000550059","url":null,"abstract":"<p><p><p>Introduction: Coenzyme Q8B (COQ8B) nephropathy is an autosomal recessive hereditary disorder caused by primary coenzyme Q10 (CoQ10) deficiency. It manifests as a genetic steroid-resistant nephrotic syndrome (SRNS), typically of childhood-onset. CoQ10 supplementation is a treatment option; however, it is not always effective in an entire patient population, leading to end-stage kidney disease. Kidney transplantation (KTx) is an effective treatment option for genetic SRNS; however, living KTx within biologically related members is associated with increased risk of allograft failure in recipients and future kidney dysfunction in donors. Here, we present two successful cases of living kidney donations from heterozygous carrier parents to their siblings with COQ8B nephropathy. Case Presentation: The family comprised two parents and three siblings. Two of the daughters were diagnosed with proteinuria at 11 and 8 years of age, respectively. COQ8B nephropathy diagnosis was confirmed by next-generation and Sanger sequencing analysis, which revealed a novel compound heterozygous mutation in the COQ8B gene (c.737G>A and c.1468C>T). An older sister missed an opportunity for CoQ10 supplementation due to late diagnosis, whereas a younger sister did not respond to CoQ10 supplementation. Living kidney donation from father to the older sister and from mother to the younger sister was successfully performed without post-transplant recurrence in recipients or kidney dysfunction in donors within 5 and 2 years of follow-up. Conclusion: Parent-to-child KTx may be an effective treatment option within family members affected with COQ8B nephropathy. </p>.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"331-337"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12863730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145781520","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}
引用次数: 0
Cystic Fibrosis beyond Childhood: A Case Report of Recurrent Heat-Induced Electrolyte Disturbances Unmasking a Late Diagnosis. 儿童期后囊性纤维化:一例复发性热致电解质紊乱的病例报告揭示了一个晚期诊断。
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2026-01-16 DOI: 10.1159/000550562
Deborah Roldán, Mariana León-Póo, Eva López-Melero, Amir Shabaka
{"title":"Cystic Fibrosis beyond Childhood: A Case Report of Recurrent Heat-Induced Electrolyte Disturbances Unmasking a Late Diagnosis.","authors":"Deborah Roldán, Mariana León-Póo, Eva López-Melero, Amir Shabaka","doi":"10.1159/000550562","DOIUrl":"10.1159/000550562","url":null,"abstract":"<p><strong>Introduction: </strong>Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by pathogenic variants in the CFTR gene, leading to impaired chloride and bicarbonate transport across epithelial tissues. While typically diagnosed in infancy due to classic respiratory and gastrointestinal symptoms, atypical forms can present later in life with subtle or isolated manifestations. This case represents a rare monosymptomatic and atypical adult-onset presentation of CF, with electrolyte disturbances as the sole clinical manifestation.</p><p><strong>Case presentation: </strong>We present the case of a 31-year-old man who developed recurrent episodes of profound electrolyte imbalance and acute kidney injury following intense physical activity in high environmental temperatures. He exhibited syncope, muscle cramps, and signs of severe dehydration. Laboratory tests revealed hyponatremia, hypokalemia, hypochloremia, hemoconcentration, and elevated creatinine levels, with urine findings consistent with extrarenal salt loss. A similar episode had occurred 6 years earlier. In the absence of an identifiable cause, CF was suspected. Sweat chloride testing confirmed the diagnosis in two separate samples. Genetic analysis revealed compound heterozygosity for a pathogenic CFTR variant and a variant of uncertain significance. Screening for other common manifestations of CF was negative.</p><p><strong>Conclusion: </strong>This case underscores the diagnostic challenge of adult-onset CF, particularly in regions where neonatal screening was not historically implemented. Electrolyte disturbances, especially in the context of heat stress, may represent the only clinical clue in patients with residual CFTR function. Prompt recognition and diagnosis are essential for initiating appropriate monitoring and treatment, including the potential use of CFTR modulator therapies that can significantly improve quality of life and long-term outcomes.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"338-341"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989952","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}
引用次数: 0
Subclinical Inflammation and Renal Allograft Dysfunction: Myth or Reality? 亚临床炎症和肾移植功能障碍:神话还是现实?
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-02-17 DOI: 10.1159/000544762
Carlos Couceiro, Maria Visent, Josep M Cruzado
{"title":"Subclinical Inflammation and Renal Allograft Dysfunction: Myth or Reality?","authors":"Carlos Couceiro, Maria Visent, Josep M Cruzado","doi":"10.1159/000544762","DOIUrl":"10.1159/000544762","url":null,"abstract":"<p><strong>Background: </strong>Since the implementation of the Banff classification, the diagnosis and treatment of transplant rejection have been standardised. However, the rigid categorisation of transplant pathology has limited our perspective on allograft inflammation, particularly disregarding those inflammatory infiltrates who do not reach the category of rejection.</p><p><strong>Summary: </strong>The term subclinical inflammation was introduced to designate the inflammation found in protocol biopsies, without significant renal function deterioration. Following the introduction of modern immunosuppression with tacrolimus and mycophenolate, subclinical rejection rate decreased, and less attention was paid to this entity. However, in the last decades, several studies have evaluated the impact of lower levels of inflammation and demonstrated its negative consequences on long-term outcomes. Although, in some patients, this subclinical inflammation is not permanent and can spontaneously disappear. The uncomplete definition of subclinical inflammation, which only considers renal function stability, and the evaluation of the biopsy as a definitive diagnosis, and not as a picture of an evolving process, are the main reasons why managing this inflammation represents a challenge, especially when there is no pathogenic mechanism identified.</p><p><strong>Key messages: </strong>In this review, we revise the \"natural\" history of inflammation in the kidney allograft and its possible origins based on cellular composition and transcriptomic expression changes in kidney biopsies. In addition, we propose an updated definition and an approach to manage it.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"425-430"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441530","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}
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