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Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype. 肾病样表型患者的双等位基因TMEM72变异
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-11-27 DOI: 10.1159/000549598
Laura R Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J C Roskothen-Shevchuk, Elena Sendino Garví, Edith D J Peters, Sanne M C Savelberg, Karen Duran, Bert van der Zwaag, Tri Q Nguyen, Roel Broekhuizen, Walter J Brummelhuis, Maarten Rookmaaker, Suzanne W van der Veen, Martin G Elferink, Alexandre Karras, Laure Raymond, Cyril Mousseaux, Omid Sadeghi-Alavijeh, John A Sayer, Eric Olinger, Ruxandra Neatu, Verena Klämbt, Marijn F Stokman, Nine V A M Knoers, Federico Tessadori, Daniel P Gale, Karsten Boldt, Marius Ueffing, Gisela G Slaats, Ronald Roepman, Friedhelm Hildebrandt, Laurent Mesnard, Gijs van Haaften, Albertien M van Eerde
{"title":"Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.","authors":"Laura R Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J C Roskothen-Shevchuk, Elena Sendino Garví, Edith D J Peters, Sanne M C Savelberg, Karen Duran, Bert van der Zwaag, Tri Q Nguyen, Roel Broekhuizen, Walter J Brummelhuis, Maarten Rookmaaker, Suzanne W van der Veen, Martin G Elferink, Alexandre Karras, Laure Raymond, Cyril Mousseaux, Omid Sadeghi-Alavijeh, John A Sayer, Eric Olinger, Ruxandra Neatu, Verena Klämbt, Marijn F Stokman, Nine V A M Knoers, Federico Tessadori, Daniel P Gale, Karsten Boldt, Marius Ueffing, Gisela G Slaats, Ronald Roepman, Friedhelm Hildebrandt, Laurent Mesnard, Gijs van Haaften, Albertien M van Eerde","doi":"10.1159/000549598","DOIUrl":"10.1159/000549598","url":null,"abstract":"<p><strong>Introduction: </strong>Nephronophthisis (NPHP) is an autosomal recessive kidney disease resulting mainly from primary cilium defects, with unspecific and variable symptoms that can progress to kidney failure needing replacement therapy at a young age. Currently, up to 64% of likely NPHP cases can be diagnosed by assessing known genes. Therefore, there is a need to gain more insight in what genes can cause this disease.</p><p><strong>Methods: </strong>In a diagnostic setting, we performed broad genetic testing in patients with advanced kidney disease. We carried out in silico and in vitro analyses for TMEM72, including immunohistochemistry and affinity proteomics, and in vivo experiments to further interpret our findings.</p><p><strong>Results: </strong>We identified biallelic TMEM72 variants in 9 patients from six families with a phenotype suggestive for NPHP. Five families presented with kidney failure at a (young) adult age. One family had a different phenotype with prenatal onset of kidney failure and neurological symptoms. The phenotypes of the patients correspond to TMEM72 expression mainly in the kidney. In silico analyses indicate that homozygous loss-of-function variants are likely not tolerated in TMEM72. Immunohistochemistry staining of kidney biopsies revealed altered localization and expression of TMEM72 in cases compared to controls. In human-derived tubuloids, we showed that TMEM72 localizes to the cilium. Furthermore, using an affinity proteomics approach, we found an association of TMEM72 and ciliary function, more specifically in selective ciliary cholesterol transport.</p><p><strong>Conclusion: </strong>We present the first genetic evidence, underlined by immunohistochemistry and protein binding assays, linking TMEM72 variants to kidney disease and ciliary function. We conclude that TMEM72 is a candidate gene for NPHP. Future work is needed to further characterize TMEM72 variants and unravel its disease mechanism.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"210-227"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12782617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145636074","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
Circadian Rhythms and Glucocorticoid Dynamics in the Kidney Matrix. 肾基质中的昼夜节律和糖皮质激素动力学。
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2026-01-29 DOI: 10.1159/000550773
Charles Gyasi, Rachel Lennon, Rebecca Preston
{"title":"Circadian Rhythms and Glucocorticoid Dynamics in the Kidney Matrix.","authors":"Charles Gyasi, Rachel Lennon, Rebecca Preston","doi":"10.1159/000550773","DOIUrl":"10.1159/000550773","url":null,"abstract":"<p><p><p>Background: The kidney matrix, once viewed as a static scaffold, is now recognised as a dynamic microenvironment that undergoes continual remodelling in response to physiological cues. Emerging evidence demonstrates that this remodelling follows circadian patterns driven by molecular clocks within specific kidney cell types. Summary: This review synthesises recent advances on circadian regulation of the kidney matrisome, with emphasis on glomerular compartments. Circadian clocks in the glomerulus coordinate the timing of matrix turnover to preserve structural integrity, maintain filtration, and promote repair. Disruption of these rhythms contributes to maladaptive matrix accumulation, fibrosis, and kidney disease progression. Key Messages: Finally, we discuss mechanistic insights and translational opportunities, including chronotherapy and clock-targeted interventions. Understanding circadian control of glomerular matrix dynamics provides a framework for linking temporal biology to kidney health and disease. </p>.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"392-401"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12975147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146086442","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 Transplantation in the Era of Climate Change: Environmental, Structural, and Ethical Implications for Future-Ready Practice. 气候变化时代的肾移植:环境、结构和伦理对未来实践的影响。
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-12-11 DOI: 10.1159/000550053
Pranesh Jain, Ola Suliman, Henry H L Wu, Rajkumar Chinnadurai
{"title":"Kidney Transplantation in the Era of Climate Change: Environmental, Structural, and Ethical Implications for Future-Ready Practice.","authors":"Pranesh Jain, Ola Suliman, Henry H L Wu, Rajkumar Chinnadurai","doi":"10.1159/000550053","DOIUrl":"10.1159/000550053","url":null,"abstract":"<p><p><p>Background: Kidney transplantation and dialysis are the two main modalities of kidney replacement therapy, and both are increasingly challenged by the current climate emergency landscape. Dialysis has long been scrutinised for its high energy and water demands, but transplantation, while generally more sustainable over the long term, also warrants critical evaluation concerning environmental accountability, equity, and resilience. Summary: In this review, we compare the environmental and structural dimensions of dialysis and transplantation, while examining how climate change uniquely affects transplant recipients and grafts. We highlight the vulnerabilities of immunosuppressed recipients to heat stress and infectious diseases, the risks of cold chain disruption for organ preservation and shipment, and the impact of graft failure necessitating return to dialysis. We then consider how green nephrology principles can be applied to transplantation, drawing on emerging UK data, global policy frameworks such as the European Green Deal, and lessons from low- and middle-income countries. Digital healthcare solutions such as hybrid virtual clinics are explored as tangible strategies to reduce the carbon footprint of follow-up care. Recent life-cycle analyses also provide comparative estimates of dialysis and transplantation emissions, underscoring the importance of nuanced evaluation of both modalities. Key Messages: We conclude with a forward-looking agenda for clinicians and policymakers to embed environmental and social responsibility into both dialysis and transplantation, ensuring that kidney replacement therapy as a whole is resilient and sustainable in a warming world. </p>.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"205-209"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12810960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145743383","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
Erratum. 勘误表。
IF 1.8 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-11-26 DOI: 10.1159/000549041
{"title":"Erratum.","authors":"","doi":"10.1159/000549041","DOIUrl":"10.1159/000549041","url":null,"abstract":"<p><p>In the article by Jeon et al. entitled \"The Impact of C-Reactive Protein-To-Albumin Ratio on Mortality in Patients with Acute Kidney Injury Requiring Continuous Renal Replacement Therapy: A Multicenter Retrospective Study\" [Nephron. 2024;148:379-389; https://doi.org/10.1159/000534970], the license type has been changed to CC-BY-NC.The original article has been updated.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"63-64"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145636100","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
Clinical Presentation, Treatment Patterns, Burden of Disease, and the Association of Proteinuria with Clinical Outcomes in C3 Glomerulopathy and Primary Immune Complex Membranoproliferative Glomerulonephritis: A Systematic Review. C3肾小球病变和原发性免疫复合物膜增生性肾小球肾炎的临床表现、治疗模式、疾病负担和蛋白尿与临床结果的关系:系统综述
IF 1.8 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-09-19 DOI: 10.1159/000548245
Fernando Caravaca-Fontán, Fadi Fakhouri, Matthew C Pickering, Vikte Lionikaite, Alison Baird, Regina Horneff, Luis López-Lázaro, Lucia Quintana-Gallardo, Carly Rich
{"title":"Clinical Presentation, Treatment Patterns, Burden of Disease, and the Association of Proteinuria with Clinical Outcomes in C3 Glomerulopathy and Primary Immune Complex Membranoproliferative Glomerulonephritis: A Systematic Review.","authors":"Fernando Caravaca-Fontán, Fadi Fakhouri, Matthew C Pickering, Vikte Lionikaite, Alison Baird, Regina Horneff, Luis López-Lázaro, Lucia Quintana-Gallardo, Carly Rich","doi":"10.1159/000548245","DOIUrl":"10.1159/000548245","url":null,"abstract":"<p><strong>Introduction: </strong>Knowledge gaps and controversies remain regarding the natural history and variability of C3 glomerulopathy (C3G) and primary immune complex membranoproliferative glomerulonephritis (IC-MPGN). The objectives were to provide an overview of these diseases for the following outcomes of interest: clinical presentation, treatment patterns, and disease burden, including the association between proteinuria and kidney outcomes.</p><p><strong>Methods: </strong>This systematic literature review (SLR) included studies of adults and children with C3G or primary IC-MPGN investigating outcomes of interest. Embase and MEDLINE were searched from January 2012 to February 22, 2024, combining terms for C3G or IC-MPGN and outcomes of interest. Supplementary congress searches and reference list checking of relevant articles were conducted. Study details, outcomes of interest, and key findings were extracted, and data were narratively summarized.</p><p><strong>Results: </strong>In total, 148 articles were included. No clear trend for differences between C3G and primary IC-MPGN were observed for clinical presentation. Treatments included immunosuppressive therapies and off-label anti-complement agents. Kidney failure occurred in up to 50% and 37% of patients with C3G and primary IC-MPGN, respectively, and kidney transplantation was required in up to 32% and 24% of patients, respectively. Mortality was reported in up to 21% of patients. No clear trend of complete remission across treatments was observed. In longitudinal studies, proteinuria was associated with increasing risk of kidney failure. No articles reported on patient quality of life or caregiver burden. Several articles reported an economic burden according to length of hospital stay. Possible limitations include that terms used for electronic searches limited which articles were identified, many studies were retrospective and small (<10 participants), and risk of bias was not performed.</p><p><strong>Conclusions: </strong>This SLR provides insights into C3G and primary IC-MPGN, emphasizing the need for new targeted and effective treatments. Proteinuria was identified to be an acceptable marker in assessing the efficacy of treatments on long-term kidney outcomes.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"25-40"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12795539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092201","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
Exercise Intervention in Patients with Metabolic Syndrome and Renal Disease: A Prospective Study (EXRED). 运动干预代谢综合征和肾病患者:一项前瞻性研究(EXRED)。
IF 1.8 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-11-27 DOI: 10.1159/000549072
Olav Rivero Martín, Raúl Morales Febles, Patricia I Delgado Mallén, Elia Reseghetti, Rosa M Miquel Rodríguez, Sara Estupiñán Torres, María A Cobo Caso, Coriolano Cruz, Laura Díaz Martín, Amelia R González Martín, Daniel J Sánchez Báez, Domingo J Hernández Marrero, Sergio Luis Lima, Esteban Porrini
{"title":"Exercise Intervention in Patients with Metabolic Syndrome and Renal Disease: A Prospective Study (EXRED).","authors":"Olav Rivero Martín, Raúl Morales Febles, Patricia I Delgado Mallén, Elia Reseghetti, Rosa M Miquel Rodríguez, Sara Estupiñán Torres, María A Cobo Caso, Coriolano Cruz, Laura Díaz Martín, Amelia R González Martín, Daniel J Sánchez Báez, Domingo J Hernández Marrero, Sergio Luis Lima, Esteban Porrini","doi":"10.1159/000549072","DOIUrl":"10.1159/000549072","url":null,"abstract":"<p><strong>Introduction: </strong>In patients with chronic kidney disease (CKD) of diverse causes, obesity and metabolic syndrome (MS) accelerate disease progression. Therapeutic exercise could be effective in treating obesity and MS in patients with CKD. However, the evidence in this area is limited. The aim of this research was to evaluate the effect of an individualized exercise program on major metabolic and renal outcomes in patients with CKD, obesity, and MS.</p><p><strong>Methods: </strong>This was an interventional exploratory study that included patients with established CKD - estimated glomerular filtration rate (GFR) ≥30 mL/min, obesity, and MS treated by therapeutic exercise (aerobic and resistance) for 6 months. We evaluated changes in renal outcomes - measured glomerular filtration rate (mGFR) with iohexol-DBS and albuminuria, and metabolic outcomes - weight and MS traits. Biochemical, anthropometric, and renal function were performed every 3 months.</p><p><strong>Results: </strong>Forty patients were evaluated. All were overweight or obese, mGFR was 58 ± 20 mL/min, and the urine albumin-creatinine ratio (UACR) was 256 mg/g [IQR: 38-774]. Based on weight reduction (>5%), patients were classified as \"responders\" (n = 30) and \"nonresponders\" (n = 10). Responders had a major reduction in body mass index from 35 ± 4 to 31 ± 4 kg/m2 (p < 0.001), triglycerides, HbA1c, systolic and diastolic blood pressure, and UACR from 222 [20-610] to 89 [17-413] mg/g (p < 0.01), whereas mGFR diminished (≥7%) in half of them and remained stable in the other half. Nonresponders experienced no changes. No major side effects were observed.</p><p><strong>Conclusion: </strong>In patients with CKD, obesity, and MS, exercise is an effective treatment to reduce weight, MS traits, and albuminuria. Changes in mGFR are heterogeneous. Understanding the impact of weight reduction on GFR changes is crucial in CKD. The role of exercise in nephrological care deserves further attention. The study trial registration number is NCT06576518.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"141-155"},"PeriodicalIF":1.8,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145636098","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
Prevalence of COVID-19 Pneumonia and Clinical Characteristics in Hemodialysis Patients during the SARS-CoV-2 Omicron Pandemic. SARS-CoV-2组粒大流行期间血液透析患者COVID-19肺炎流行及临床特征
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2026-06-16 DOI: 10.1159/000552917
Yunyu Xu, Min Zhang, Jie Zhou, Yuanhao Wu, Yin Zheng, Li You, Jun Xue, Da Shang, Chuanming Hao
{"title":"Prevalence of COVID-19 Pneumonia and Clinical Characteristics in Hemodialysis Patients during the SARS-CoV-2 Omicron Pandemic.","authors":"Yunyu Xu, Min Zhang, Jie Zhou, Yuanhao Wu, Yin Zheng, Li You, Jun Xue, Da Shang, Chuanming Hao","doi":"10.1159/000552917","DOIUrl":"10.1159/000552917","url":null,"abstract":"<p><strong>Background: </strong>Omicron variants of COVID-19 have driven global waves of infection. Hemodialysis patients are particularly vulnerable to severe outcomes. However, clinical data on the impact of Omicron infection in hemodialysis patients remain limited.</p><p><strong>Methods: </strong>We retrospectively collected clinical data on hemodialysis patients infected with the COVID-19 Omicron variant at Huashan Hospital between March 31 and May 3, 2022, a period marked by a rapid increase in COVID-19 cases. Patients were categorized into two groups based on chest CT: the non-COVID-19 pneumonia group and the COVID-19 pneumonia group. Additionally, 74 diabetic patients who did not receive hemodialysis and who contracted COVID-19 during the study period were analyzed as controls.</p><p><strong>Results: </strong>A total of 150 hemodialysis patients were admitted to the hospital during this period, and 3 were excluded because of a lack of chest CT. At admission, 105 (71.4%) patients were diagnosed with COVID-19 pneumonia on the basis of chest CT. In contrast, 41.9% of non-hemodialysis diabetic patients exhibited manifestations of COVID-19 pneumonia. In dialysis patients, compared to the non-pneumonia group, the pneumonia group was older (65.7 ± 12.0 vs. 59.9 ± 16.3 years; p = 0.041) and had a higher prevalence of diabetes (39.0% vs. 11.9%; p = 0.003). The median time from the initial positive RT-PCR result for SARS-CoV-2 to the first negative result was similar between the two groups. Serum levels of fibrinogen, NT-pro-BNP, and creatinine were independent factors associated with CT-defined COVID-19 pneumonia.</p><p><strong>Conclusions: </strong>Hemodialysis patients had a higher prevalence of COVID-19 pneumonia. The fibrinogen level was an independent factor associated with CT-defined COVID-19 pneumonia.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"650-658"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148265510","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
Erratum. 勘误表。
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2026-09-17 DOI: 10.1159/000552291
{"title":"Erratum.","authors":"","doi":"10.1159/000552291","DOIUrl":"10.1159/000552291","url":null,"abstract":"<p><p>In the article \"Transfused Macrophages Ameliorate Pancreatic and Renal Injury in Murine Diabetes Mellitus\" [Nephron Exp Nephrol. 2011;118(4):e87-99; https://doi.org/10.1159/000321034] by Zheng et al., the authors noted there was an error in Figure 6a.Fig. 6.Deactivation of endogenous kidney macrophages (EM) by M2 macrophages. a EM (CD11b+DiI-) were separated from STZ mice transfused with M2 macrophages by FACS sorting at day 70. b EM were isolated from kidney from each group at day 70, mRNA expression of cytokines was examined by real-time PCR. *p < 0.01 vs. diabetic control and diabetic-M0. Data represent mean ± SD, n = 7 per group.An error occurred during the figure assembly that resulted in the incorrect image being selected for Figure 6a. The authors have cross-referenced the replacement image against the original raw flow cytometry (FCS) files and laboratory notebooks and have confirmed there is no impact on the conclusions.The corrected Figure 6 is shown here.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"707-708"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148990703","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
Characterization of Kidney and Liver Cystic Phenotype Associated with GANAB Using Advanced Imaging Biomarkers. 使用先进的成像生物标志物表征与GANAB相关的肾脏和肝脏囊性表型。
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2026-03-03 DOI: 10.1159/000551274
Fadi George Munairdjy Debeh, Marie Therese Bou Antoun, Ahmad Ghanem, Vineetha Rangarajan, Abdul Hamid Borghol, Stefan Paul, Dana Hanna, Bassel AlKhatib, Nay Nader, Besher Shami, Adriana Gregory, Hana Yang, Rachel S Schauer, Ziad Zoghby, Marie C Hogan, Neera K Dahl, Christian Hanna, Timothy L Kline, Peter C Harris, Fouad T Chebib
{"title":"Characterization of Kidney and Liver Cystic Phenotype Associated with GANAB Using Advanced Imaging Biomarkers.","authors":"Fadi George Munairdjy Debeh, Marie Therese Bou Antoun, Ahmad Ghanem, Vineetha Rangarajan, Abdul Hamid Borghol, Stefan Paul, Dana Hanna, Bassel AlKhatib, Nay Nader, Besher Shami, Adriana Gregory, Hana Yang, Rachel S Schauer, Ziad Zoghby, Marie C Hogan, Neera K Dahl, Christian Hanna, Timothy L Kline, Peter C Harris, Fouad T Chebib","doi":"10.1159/000551274","DOIUrl":"10.1159/000551274","url":null,"abstract":"<p><strong>Background: </strong>Monoallelic pathogenic variants in GANAB cause autosomal dominant cystic kidney and liver disease, but quantitative imaging phenotypes remain incompletely defined.</p><p><strong>Methods: </strong>We performed a retrospective study of 16 individuals with GANAB variants and available abdominal imaging. Deep learning-based cyst segmentation quantified kidney and liver volumes and cyst metrics, including height-adjusted total kidney volume (htTKV), height-adjusted total liver volume, total cyst number (TCN), and height-adjusted total cyst volume.</p><p><strong>Results: </strong>Hepatic involvement was common, with polycystic liver disease present in most individuals with varying severity (liver TCN range 22-219). Kidney involvement was more heterogeneous (htTKV range 153-858 mL/m; kidney TCN range 3-42). Individuals with kidney TCN <20 had preserved kidney function and slower annual estimated glomerular filtration rate (eGFR) decline (median -1.68 mL/min/1.73 m2) compared with those with kidney TCN ≥20 (-2.8 mL/min/1.73 m2/year); no individual progressed to kidney failure during follow-up. Hypertension occurred in 50%. Intracranial aneurysms were identified in 3 of 6 screened individuals, including two from a family with known aneurysmal disease.</p><p><strong>Conclusions: </strong>Quantitative imaging reveals a phenotypic spectrum in ADPKD-GANAB, ranging from liver-predominant cystic disease with minimal kidney involvement to a phenotype with higher kidney cyst burden and faster eGFR decline. Establishing robust genotype-phenotype relationships in this rare disease will require larger, aggregated cohorts with standardized imaging and systemic extrarenal screening.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"482-497"},"PeriodicalIF":2.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13135869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348646","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
Tailored Complex Symptom Management Intervention for Adults with Advanced Kidney Disease and Their Informal Caregivers: Protocol for the COMFORT Research Program. 针对晚期肾脏疾病成人及其非正式照护者的量身定制的复杂症状管理干预:COMFORT研究项目的方案。
IF 2.3 4区 医学
Nephron Pub Date : 2026-01-01 Epub Date: 2025-10-13 DOI: 10.1159/000548903
Jeanette Finderup, Hanne Agerskov, Malene Deele, Christina Egmose Frandsen, Ingrid Villadsen Kristensen, Ann Bonner, Hanne Konradsen
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