Nephrology Dialysis Transplantation最新文献

{"title":"Prevalence and characteristics of genetic disease in adult kidney stone formers.","authors":"Manuel A Anderegg, Eric G Olinger, Matteo Bargagli, Rob Geraghty, Lea Taylor, Alexander Nater, Rémy Bruggmann, John A Sayer, Bruno Vogt, André Schaller, Daniel G Fuster","doi":"10.1093/ndt/gfae074","DOIUrl":"10.1093/ndt/gfae074","url":null,"abstract":"<p><strong>Background: </strong>Molecular mechanisms of kidney stone formation remain unknown in most patients. Previous studies have shown a high heritability of nephrolithiasis, but data on the prevalence and characteristics of genetic disease in unselected adults with nephrolithiasis are lacking. This study was conducted to fill this important knowledge gap.</p><p><strong>Methods: </strong>We performed whole exome sequencing in 787 participants in the Bern Kidney Stone Registry, an unselected cohort of adults with one or more past kidney stone episodes [kidney stone formers (KSFs)] and 114 non-kidney stone formers (NKSFs). An exome-based panel of 34 established nephrolithiasis genes was analysed and variants assessed according to American College of Medical Genetics and Genomics criteria. Pathogenic (P) or likely pathogenic (LP) variants were considered diagnostic.</p><p><strong>Results: </strong>The mean age of KSFs was 47 ± 15 years and 18% were first-time KSFs. A Mendelian kidney stone disease was present in 2.9% (23/787) of KSFs. The most common genetic diagnoses were cystinuria (SLC3A1, SLC7A9; n = 13), vitamin D-24 hydroxylase deficiency (CYP24A1; n = 5) and primary hyperoxaluria (AGXT, GRHPR, HOGA1; n = 3). Of the KSFs, 8.1% (64/787) were monoallelic for LP/P variants predisposing to nephrolithiasis, most frequently in SLC34A1/A3 or SLC9A3R1 (n = 37), CLDN16 (n = 8) and CYP24A1 (n = 8). KSFs with Mendelian disease had a lower age at the first stone event (30 ± 14 versus 36 ± 14 years; P = .003), were more likely to have cystine stones (23.4% versus 1.4%) and less likely to have calcium oxalate monohydrates stones (31.9% versus 52.5%) compared with KSFs without a genetic diagnosis. The phenotype of KSFs with variants predisposing to nephrolithiasis was subtle and showed significant overlap with KSFs without diagnostic variants. In NKSFs, no Mendelian disease was detected and LP/P variants were significantly less prevalent compared with KSFs (1.8% versus 8.1%).</p><p><strong>Conclusion: </strong>Mendelian disease is uncommon in unselected adult KSFs, yet variants predisposing to nephrolithiasis are significantly enriched in adult KSFs.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140306310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma symmetric dimethylarginine and kidney graft function in kidney transplant recipients.","authors":"Daan Kremer, Sovia Salamah, Dion Groothof, Adrian Post, Tim J Knobbe, António W Gomes Neto, Sarah Peterson, Marco van Londen, Murthy Yerramilli, Stefan P Berger, Firas F Alkaff, Martin H de Borst, Stephan J L Bakker","doi":"10.1093/ndt/gfae109","DOIUrl":"10.1093/ndt/gfae109","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic kidney stones disease in adults.","authors":"Rebekka Stephan, Bernd Hoppe","doi":"10.1093/ndt/gfae099","DOIUrl":"10.1093/ndt/gfae099","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140920977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric kidney care experience after the 2023 Türkiye earthquake.","authors":"Sevcan A Bakkaloğlu, Ali Delibaş, Serra Sürmeli Döven, Sevgin Taner, Sevgi Yavuz, Gökçen Erfidan, Esra Danacı Vatansever, Fatma Aynacı, Kenan Yilmaz, Mehmet Taşdemir, Okan Akacı, Nurver Akıncı, Serçin Güven, Neslihan Çiçek, Ismail Dursun, Emre Keleşoğlu, Muhammet Sancaktar, Demet Alaygut, Seha Saygılı, Önder Yavaşcan, Alev Yılmaz, Kaan Gülleroğlu, Pelin Ertan, Belde Kasap Demir, Hakan Poyrazoğlu, Seda Pınarbaşı, Aylin Gençler, Funda Baştuğ, Neslihan Günay, Kübra Çeleğen, Aytül Noyan, Gönül Parmaksız, Begüm Avcı, Fatma Şemsa Çaycı, Umut Bayrakçı, Sare Gülfem Özlü, Özlem Yüksel Aksoy, Sibel Yel, Güldane Aylin İnal, Seçil Köse, Aysun Karabay Bayazıt, Bahriye Atmış, Emel Sarıbaş, Çağla Çağlı, Yılmaz Tabel, Ahmet Taner Elmas, Şenay Zırhlı Selçuk, Beltinge Demircioğlu Kılıç, Mehtap Akbalık Kara, Mithat Büyükçelik, Ayşe Balat, Betül Durucu Tiryaki, Bilge Erdoğdu, Bağdagül Aksu, Günay Mahmudova, Hasan Dursun, Cengiz Candan, Nilüfer Göknar, Fatma Mutlubaş, Seçil Arslansoyu Çamlar, Cemaliye Başaran, Burcu Bulum Akbulut, Ali Düzova, Bora Gülhan, Çiğdem Oruç, Harun Peru, Harika Alpay, Özde Nisa Türkkan, Rüveyda Gülmez, Mehtap Çelakıl, Kenan Doğan, Ilmay Bilge, Cemile Pehlivanoğlu, Bahar Büyükkaragöz, Emre Leventoğlu, Nuray Alpman, Cengiz Zeybek, Sebahat Tülpar, Rümeysa Yasemin Çiçek Gülşan, Aslıhan Kara, Metin Kaya Gürgöze, Esra Nagehan Akyol Önder, Yeşim Özdemir Atikel, Serim Pul, Ferah Sönmez, Gizem Yıldız, Sema Akman, Midhat Elmacı, Nuran Küçük, Selçuk Yüksel, Aslı Kavaz, Hülya Nalçacıoğlu, Caner Alparslan, Nida Dinçel, Atilla H Elhan, Lale Sever","doi":"10.1093/ndt/gfae033","DOIUrl":"10.1093/ndt/gfae033","url":null,"abstract":"<p><strong>Background: </strong>Two earthquakes on 6 February 2023 destroyed 10 cities in Türkiye. We report our experience with pediatric victims during these catastrophes, with a focus on crush syndrome related-acute kidney injury (Crush-AKI) and death.</p><p><strong>Method: </strong>Web-based software was prepared. Patient demographics, time under rubble (TUR), admission laboratory data, dialysis, and kidney and overall outcomes were recorded.</p><p><strong>Results: </strong>A total of 903 injured children (median age 11.62 years) were evaluated. Mean TUR was 13 h (interquartile range 32.5, max 240 h). Thirty-one of 32 patients with a TUR of >120 h survived. The patient who was rescued after 10 days survived. Two-thirds of the patients were given 50 mEq/L sodium bicarbonate in 0.45% sodium chloride solution on admission day. Fifty-eight percent of patients were given intravenous fluid (IVF) at a volume of 2000-3000 mL/m2 body surface area (BSA), 40% at 3000-4000 mL/m2 BSA and only 2% at >4000 mL/m2 BSA. A total of 425 patients had surgeries, and 48 suffered from major bleeding. Amputations were recorded in 96 patients. Eighty-two and 66 patients required ventilator and inotropic support, respectively. Crush-AKI developed in 314 patients (36% of all patients). In all, 189 patients were dialyzed. Age >15 years, creatine phosphokinase (CK) ≥20 950 U/L, TUR ≥10 h and the first-day IVF volume <3000-4000 mL/m2 BSA were associated with Crush-AKI development. Twenty-two deaths were recorded, 20 of 22 occurring in patients with Crush-AKI and within the first 4 days of admission. All patients admitted after 7 days survived.</p><p><strong>Conclusions: </strong>These are the most extensive pediatric kidney disaster data obtained after an earthquake. Serum CK level was significantly associated with Crush-AKI at the levels of >20 950 U/L, but not with death. Adolescent age and initial IVF of less than 3000-4000 mL/m2 BSA were also associated with Crush-AKI. Given that mildly injured victims can survive longer periods in the disaster field, we suggest uninterrupted rescue activity for at least 10 days.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139702923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sparsentan is superior to losartan in the gddY mouse model of IgA nephropathy.","authors":"Hajime Nagasawa, Seiji Ueda, Hitoshi Suzuki, Celia Jenkinson, Yusuke Fukao, Maiko Nakayama, Tomoyuki Otsuka, Teruyuki Okuma, Wilmelenne Clapper, Kai Liu, Mai Nguyen, Radko Komers, Yusuke Suzuki","doi":"10.1093/ndt/gfae021","DOIUrl":"10.1093/ndt/gfae021","url":null,"abstract":"<p><strong>Background: </strong>The mechanism leading to the development of immunoglobulin A nephropathy (IgAN) remains to be completely understood. Endothelin-1 (ET-1) as well as angiotensin II (AngII) promote glomerular injury, tubulointerstitial inflammation and fibrosis leading to chronic kidney disease. Sparsentan, a dual endothelin angiotensin receptor antagonist, recently received accelerated approval in the USA for the reduction of proteinuria in adults with IgAN at high risk of disease progression. To elucidate the mechanisms by which sparsentan is efficacious in IgAN, we examined the effect of treatment in gddY mice, a spontaneous IgAN mouse model, versus the monoselective angiotensin II type 1 receptor (AT1R) antagonist, losartan, on the development of renal injury at doses resulting in similar blood pressure lowering.</p><p><strong>Methods: </strong>Four-week-old gddY mice were given control chow, chow containing sparsentan or drinking water containing losartan until 12 or 20 weeks old.</p><p><strong>Results: </strong>Remarkably, the albumin:creatine ratio (ACR) was attenuated more rapidly and to a greater extent in mice treated with sparsentan than those treated with losartan. The decrease in ACR from baseline after 4 weeks of treatment correlated with beneficial effects of sparsentan on glomerulosclerosis and protection of podocytes and glycocalyx after 16 weeks of treatment across treatment groups; thus, sparsentan treatment delayed development of renal injury to a greater extent than losartan. Expression of mRNA for ET-1, endothelin type A receptor and AT1R and proinflammatory genes was upregulated in 12-week-old gddY mice and was prevented by sparsentan and losartan to a comparable extent.</p><p><strong>Conclusions: </strong>The results of this study, and in light of the results of the phase 3 PROTECT trial, provide a novel perspective and understanding of the mechanisms by which sparsentan has a beneficial renoprotective effect against IgAN compared with AT1R antagonism alone.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11361813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139564596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Access to kidney transplantation from dialysis facilities affiliated with a transplant center versus free-standing dialysis facilities in the US.","authors":"Lucy Y Zhang, Alex Dinh, Kirsten L Johansen, Charles E McCulloch, Barbara Grimes, Elaine Ku","doi":"10.1093/ndt/gfae194","DOIUrl":"https://doi.org/10.1093/ndt/gfae194","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142117109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kidney thrombotic microangiopathy with concurrent monoclonal gammopathy.","authors":"Meng Tan, Changhao Jia, Xiaotian Liu, Daoxu Wu, Xiaojuan Yu, Minghui Zhao, Ying Tan","doi":"10.1093/ndt/gfae191","DOIUrl":"https://doi.org/10.1093/ndt/gfae191","url":null,"abstract":"<p><strong>Background: </strong>The concurrence of monoclonal gammopathy and TMA was suggested in a few studies. However, the complement activation was not fully studied in previous cases. In this study, we aimed to determine the complement activation in these group of patients and the association with clinical, laboratory and pathological features.</p><p><strong>Methods: </strong>Between 2007 to 2020, 20 patients with biopsy-proven renal TMA patients and monoclonal gammopathy in Peking University First Hospital were included in the study. Complement activation was tested by enzyme-linked immunosorbent assay. Associations with clinical features, pathological data, and laboratory findings were further investigated.</p><p><strong>Results: </strong>Among renal TMA patients beyond 50 years of age, the prevalence of monoclonal gammopathy was 16.51% (18/109) which is almost 4-fold greater than the expected rate in population (4.2%). Eleven patients had acute kidney injury, and two patients required dialysis. Hematological diagnosis was consistent with monoclonal gammopathy of undetermined significance (n = 10), unconfirmed MGUS (n = 3), POEMS syndromes (n = 4), Castleman's disease (n = 2), and chronic lymphocytic leukemia (n = 1). A majority of patients (84.2%) showed the activation of complement classical pathway. 15% (3/20) of patients received conservative therapy, 5% one patient received steroid only, 30% (6/20) received with immunosuppression, and 50% (10/20) received with clone-targeted chemotherapy. During 56 months Of median follow-up, ESRD developed in 2 patients, and 5 patients died mainly because of hematological progression.</p><p><strong>Conclusion: </strong>This study found the dysregulation of complement activation, especially the classical pathway, involved in the pathogenesis of biopsy-proven renal TMA and monoclonal gammopathy.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Women of european renal association (WERA) task force: together for more awareness towards gender balance in nephrology.","authors":"Lucia Del Vecchio, Olga Balafa, Magdalena Jankowska, Nilufar Mohebbi, Ana Garcia-Prieto, Amaryllis H Van Craenenbroeck","doi":"10.1093/ndt/gfae190","DOIUrl":"https://doi.org/10.1093/ndt/gfae190","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adult outcomes of childhood kidney replacement therapy in Europe from 2008 to 2019: an ERA Registry study.","authors":"Iris R Montez de Sousa, Marjolein Bonthuis, Anneke Kramer, Flor Angel Ordoñez, Francisco de la Cerda Ojeda, Helena Rydell, Jaakko Helve, Jaap W Groothoff, Kristine Hommel, Lukas Buchwinkler, Mårten Segelmark, Mustafa Arici, Runolfur Palsson, Samira Bell, Sara Trujillo-Alemán, Sevcan A Bakkaloglu, Søren S Sørensen, Anna Vila, Alberto Ortiz, Vianda S Stel, Kitty J Jager","doi":"10.1093/ndt/gfae189","DOIUrl":"https://doi.org/10.1093/ndt/gfae189","url":null,"abstract":"<p><strong>Background and hypothesis: </strong>Young adults starting kidney replacement therapy (KRT) during childhood and reaching their 18th birthday (i.e. adult survivors of childhood KRT) form a challenging population of interest to nephrologists treating adults, as during this period there will be a transition to adult renal centres. Nonetheless, few studies have focused on the epidemiology of KRT in this group. We aimed to provide an update on these patients' characteristics, treatment history, graft and patient survival, to report their 5-year prognosis, and expected remaining lifetime.</p><p><strong>Methods: </strong>Data on KRT patients reaching their 18th birthday in 2008-2019 were collected from 21 European countries/regions providing individual patient data to the European Renal Association (ERA) Registry. Patient characteristics and treatment trajectories were examined before and after turning 18 years. Kaplan-Meier and Cox proportional hazards regression were used for patient and graft survival analyses.</p><p><strong>Results: </strong>In total, 2944 patients were included. The proportion of adult survivors initiating KRT at a very young age (0-4 years), and undergoing pre-emptive kidney transplantation increased. Unadjusted 5-year patient survival was 96.9% (95% CI: 96.2-97.5). Dialysis patients had a higher risk of death than kidney transplant recipients (adjusted hazard ratio 5.44 (95% CI: 3.34-8.86)). Between ages 18 and 23 years, about 21% of the adult survivors lost their kidney transplant and 34% of the dialysis patients continued this treatment. Compared with the general population, life expectancy for eighteen-year-old kidney transplant and dialysis patients was 17 and 40 years shorter, respectively.</p><p><strong>Conclusion: </strong>Life expectancy of 18-year-old kidney transplant recipients was lower compared with the general population. Yet, having a functioning kidney graft at age 18 years resulted in better outcomes than being on dialysis. Nevertheless, between ages 18 and 23 years, about one-fifth of the kidney grafts failed and one-third of the patients remained on dialysis.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-linear relationships in clinical research.","authors":"Nicholas C Chesnaye, Merel van Diepen, Friedo Dekker, Carmine Zoccali, Kitty J Jager, Vianda S Stel","doi":"10.1093/ndt/gfae187","DOIUrl":"https://doi.org/10.1093/ndt/gfae187","url":null,"abstract":"<p><p>True linear relationships are rare in clinical data. Despite this, linearity is often assumed during analyses, leading to potentially biased estimates and inaccurate conclusions. In this introductory paper, we aim to first describe - in a non-mathematical manner - how to identify non-linear relationships. Various methods are then discussed that can be applied to deal with non-linearity, including transformations, polynomials, splines, and Generalized Additive Models (GAMs), along with their strengths and weaknesses. Finally, we illustrate the use of these methods with a practical example from nephrology, providing guidance on how to report the results from non-linear relationships.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142018151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}