Case Reports in Nephrology and Dialysis最新文献

{"title":"Eculizumab for Thrombotic Microangiopathy Induced by Onasemnogene Abeparvovec in Spinal Muscular Atrophy.","authors":"Tanja Kersnik Levart, Nina Olas Kar, Chiara Močnik Pegan, Eva Vrščaj, Anja Troha Gergeli, Tanja Loboda, Damjan Osredkar","doi":"10.1159/000546114","DOIUrl":"10.1159/000546114","url":null,"abstract":"<p><strong>Introduction: </strong>Onasemnogene abeparvovec is one of the three disease-modifying therapies available that can significantly improve the outcome of patients with 5q-spinal muscular atrophy. Therapy-induced thrombotic microangiopathy is an ultra-rare, but potentially life-threatening condition of not yet clearly defined aetiology.</p><p><strong>Case presentation: </strong>A case of a 2-year-old patient with 5q-spinal muscular atrophy, who developed thrombotic microangiopathy after gene replacement therapy with onasemnogene abeparvovec, is described. This severe adverse event was promptly recognized and successfully treated with the complement C5 inhibitor.</p><p><strong>Conclusion: </strong>Thrombotic microangiopathy is an ultra-rare, but potentially life-threatening condition that can occur after onasemnogene abeparvovec therapy. Anticipation of these serious adverse events, its prompt recognition and treatment is crucial for a better outcome.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"133-140"},"PeriodicalIF":0.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144332522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibronectin Glomerulopathy: A First African Case Report.","authors":"Abel Zemenfes Tsighe, Helen Gebremedhin Gebreegziabhier, Shephali Sharma","doi":"10.1159/000546060","DOIUrl":"10.1159/000546060","url":null,"abstract":"<p><strong>Introduction: </strong>Fibronectin glomerulopathy is a rare autosomal dominant disorder characterized by abnormal deposition of fibronectin within the kidney. It is associated with several variant mutations in the FN1 gene. It is a disorder predominantly characterized by proteinuria that can reach the nephrotic range, and it has been primarily described in Asian and White populations. Here, we report a case of fibronectin glomerulopathy from Ethiopia, which, to our knowledge, is the first ever reported in Africa.</p><p><strong>Case presentation: </strong>A 17-year-old Ethiopian female presented with generalized body swelling and nephrotic range proteinuria. Secondary causes of nephrotic syndrome were ruled out, but kidney biopsy was not performed early because of financial constraints. The patient received initial treatments with RASi (renin-angiotensin system inhibitor) and diuretics followed by steroids and tacrolimus, but lacked a clear response. Eventually, a kidney biopsy and examination at a pathology laboratory in India revealed extensive periodic acid Schiff-positive but Jones' methenamine silver-negative and Congo red-negative mesangial and capillary wall deposits, which stained strongly for fibronectin on immunohistochemistry. A diagnosis of fibronectin glomerulopathy was made.</p><p><strong>Conclusion: </strong>Diagnosing fibronectin glomerulopathy could be challenging in many developing nations due to a lack of proper pathological and genetic testing infrastructure. Improving local health infrastructure for kidney tissue diagnosis could improve diagnostic accuracy, better guide management, and help avoid the administration of unnecessary medications with a potential for serious adverse events.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"125-132"},"PeriodicalIF":0.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12173444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical Hemolytic Uremic Syndrome/Complement-Mediated Thrombotic Microangiopathy Triggered by SARS-CoV-2 Infection: A Case Report.","authors":"Malte Krakow, Johanna H Hinrichs, Judit Horvath, Hermann Pavenstädt, Marcus Brand","doi":"10.1159/000545798","DOIUrl":"10.1159/000545798","url":null,"abstract":"<p><strong>Introduction: </strong>Atypical hemolytic uremic syndrome (aHUS), commonly considered the prototypical form of complement-mediated thrombotic microangiopathy, is caused by dysregulated complement activation, often triggered by genetic mutations and external factors. We present a case of aHUS occurring 1 month after SARS-CoV-2 infection in a patient with a mutation in the complement factor H (CFH), a primary regulator of the alternative complement pathway.</p><p><strong>Case presentation: </strong>A 41-year-old woman with no prior conditions developed acute kidney injury, hemolytic anemia, and thrombocytopenia 1 month after SARS-CoV-2 infection. Genetic testing identified a pathogenic CFH variant (c.3572C>T), and kidney biopsy confirmed thrombotic microangiopathy. Treatment with plasma exchange, corticosteroids, and C5 inhibitors led to remission of proteinuria and improved renal function within 2 months, avoiding dialysis. Even a second SARS-CoV-2 infection 6 months after the onset of aHUS and under continuous complement C5 inhibition did not result in further kidney damage.</p><p><strong>Conclusions: </strong>Our case report is consistent with observations made by several groups that SARS-CoV-2 infection may trigger aHUS in genetically predisposed individuals. Early diagnosis and complement-targeted therapy are crucial to prevent severe outcomes.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"119-124"},"PeriodicalIF":0.7,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Purtscher-Like Retinopathy with Renal Impairment: A Case Report and Review of the Literature.","authors":"Melita Virpšaitė, Giedrė Žulpaitė, Marius Miglinas","doi":"10.1159/000546027","DOIUrl":"10.1159/000546027","url":null,"abstract":"<p><strong>Introduction: </strong>Purtscher-like retinopathy (PLR) is a rare retinal vasculopathy characterized by acute vision loss. It is typically associated with systemic diseases such as renal impairment. The combined incidence of Purtscher retinopathy and PLR is estimated at 0.24 cases per million annually. The hallmark of PLR is sudden-onset visual acuity reduction accompanied by retinal findings, including Purtscher flecken, hemorrhages, and cotton-wool spots.</p><p><strong>Case presentation: </strong>We report a 46-year-old male with a history of chronic hypertension, dyslipidemia, cryoglobulinemia, and multiple viral infections, presenting with sudden bilateral vision loss. Fundoscopy revealed retinal swelling, hemorrhages, and exudation. Laboratory findings indicated impaired renal function (eGFR by CKD-EPI Cr 19 mL/min/1.73 m²), cryoglobulinemia, and signs of chronic kidney disease. A renal biopsy confirmed membranoproliferative glomerulonephritis with immune complex deposition. The patient was treated with corticosteroids, therapeutic apheresis, and supportive care. Visual acuity partially improved in one eye during hospitalization.</p><p><strong>Conclusion: </strong>PLR is a rare condition often linked to systemic diseases such as renal failure. Its pathophysiology involves retinal microvascular damage, potentially mediated by complement activation. Diagnosis is based on characteristic fundoscopic findings and associated systemic conditions. Corticosteroids remain the most commonly used treatment, although evidence for their efficacy is limited. This case highlights the rare overlap between PLR and renal impairment, emphasizing the importance of early recognition and multidisciplinary management. Further research is needed to elucidate the pathophysiology and optimize treatment protocols for PLR.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"105-112"},"PeriodicalIF":0.7,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Peritoneal Dialysis Catheter Malfunction due to Adhesion to Ileum: A Case Report.","authors":"Putu Angga Risky Raharja, I Putu Gde Fredy Gunawan, Gerhard Reinaldi Situmorang, Irfan Wahyudi, Arry Rodjani, Henny Adriani Puspitasari","doi":"10.1159/000546016","DOIUrl":"10.1159/000546016","url":null,"abstract":"<p><strong>Introduction: </strong>Peritoneal dialysis (PD) has been demonstrated to be advantageous in the treatment of patients with end-stage kidney disease (ESKD), especially in children. However, patients undergoing PD may experience mechanical problems such as catheter blockages. Obstruction of catheters mainly occur due to bowel dilatation and adhesion of the omentum but also can be caused by fibrin clots, constipation, peritonitis, and surgical procedures.</p><p><strong>Case presentation: </strong>We reported a case of PD catheter adhesion to the ileum in a 1-year-old girl. Previously, the patient underwent laparoscopic insertion of PD catheter due to ESKD. One month after the procedure, there were signs of catheter obstruction. Laparoscopy evaluation and revision were carried out.</p><p><strong>Conclusion: </strong>PD catheter malfunction is primarily due to obstruction; early laparoscopic intervention should be considered to address adhesion to other organs, preventing complications and PD discontinuation.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"113-118"},"PeriodicalIF":0.7,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Pathological Course of Recurrent C3 Glomerulonephritis from Onset to Graft Loss: A Case Report.","authors":"Azusa Kobayashi, Asami Takeda, Shoji Saito, Hibiki Shinjo, Daiki Iguchi, Kenta Futamura, Manabu Okada, Takahisa Hiramitsu, Shunji Narumi, Yoshihiko Watarai","doi":"10.1159/000545853","DOIUrl":"10.1159/000545853","url":null,"abstract":"<p><strong>Introduction: </strong>Complement 3 glomerulonephritis (C3GN) has a high recurrence rate after kidney transplantation. Before the disease became well understood, kidney transplantation was performed without a diagnosis of C3GN. This report describes a case of recurrent C3GN diagnosed using allograft biopsy and evaluates its long-term clinical and pathological course.</p><p><strong>Case presentation: </strong>A 35-year-old man with membranoproliferative glomerulonephritis underwent an ABO-compatible living-donor renal transplantation. Three weeks post-transplantation, an allograft biopsy showed prominent granular C3 deposits. One year after transplantation, an allograft biopsy revealed slight mesangial expansion with C3 deposits and a few urinary proteins. Recurrent C3GN was diagnosed based on similar C3 deposition in the native kidney. Eight years post-transplantation, urinary protein levels began to increase and renal function gradually declined. Approximately 10 years after transplantation, an allograft biopsy revealed severe secondary focal segmental glomerulosclerosis and arteriolopathy with no active C3GN lesions. Ten months later, deteriorating kidney function necessitated hemodialysis.</p><p><strong>Conclusion: </strong>In this case, C3GN recurred early after transplantation, but its activity did not increase for 8 years. The causes of chronic allograft dysfunction vary among cases. More cases and detailed observational studies are needed to determine treatment strategies for recurrent C3GN and graft prognosis.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"98-104"},"PeriodicalIF":0.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12094686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emergency Renal Replacement Therapy with Manual Dialysis in Patients with Acute Kidney Injury: First-in-Human Case Report.","authors":"Juan Pablo Gómez-Villarreal, Paola Borbolla-Flores, Ricardo Abraham Garza-Treviño, Mara Olivo-Gutiérrez, Marco Antonio Hernández-Guedea, Denise C Hasson, Giovanni Ceschia, Lilia Rizo-Topete","doi":"10.1159/000545061","DOIUrl":"10.1159/000545061","url":null,"abstract":"<p><strong>Introduction: </strong>Untreated severe renal disease can be fatal, and renal replacement therapy (RRT) is often essential for survival. However, access to RRT can be limited by resource constraints, particularly in emergency or austere settings. There is a critical need for portable, cost-effective, and efficient medical devices capable of delivering RRT. This case report describes the first-in-human use of the \"Kirpa Kit procedure,\" a manual dialysis device designed to provide RRT when conventional dialysis resources are unavailable or overwhelmed.</p><p><strong>Case presentation: </strong>A 37-year-old previously healthy male presented with a gunshot wound to the left leg, resulting in significant vascular injury and hemorrhagic shock requiring surgical intervention. Postoperatively, the patient remained intubated and hemodynamically unstable, developing stage 3 acute kidney injury necessitating continuous renal replacement therapy (CRRT). Due to further deterioration and the need for amputation, the patient was confined to the operating room (OR), where CRRT could not be performed. Given the patient's anuria and fluid overload, the nephrology team assessed the patient and determined he was a suitable candidate for manual dialysis using the Kirpa Kit™, with ultrafiltration (UF) as the primary objective for fluid removal. A total of 600 mL of UF was safely removed (UF rate of 600 mL/h), and the patient demonstrated both clinical and ultrasonographic improvement. Notably, portal vein pulsatility decreased from 38% to 31% following the procedure, indicating a reduction in fluid overload. The patient's vital signs remained stable throughout.</p><p><strong>Conclusion: </strong>The Kirpa Kit procedure was successfully and safely used to manage fluid overload in a critically ill patient, demonstrating its potential as an emergency dialysis device for bridging patients with renal emergencies to standard RRT in resource-limited environments. Further studies are needed to evaluate the device's broader applications and limitations.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"89-97"},"PeriodicalIF":0.7,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12091994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144109981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bladder Stone Incarceration in Posterior Urethral Valve Leading to Urinary Retention: A Case Report.","authors":"Limin Huang, Fei Liu, Yanfei Wang, Yanyan Jin, Yingying Zhang, Haidong Fu, Jianhua Mao","doi":"10.1159/000545455","DOIUrl":"10.1159/000545455","url":null,"abstract":"<p><strong>Introduction: </strong>Posterior urethral valve (PUV) and vesical calculus are individually among the most common causes of obstructive lower urinary symptoms in children. Intermittent urinary retention can be caused by a combination of PUVs and bladder stones. There are very few reports of an association between PUVs and bladder calculus.</p><p><strong>Case presentation: </strong>We present a case of intermittent urinary retention resulting from a stone obstructing the PUV. The patient experienced intermittent urinary retention for over a month. A computed tomography scan revealed a bladder stone in the posterior urethra. The intracorporeal lithotripsy for calculus with fulguration of the PUV was performed using holmium:YAG laser.</p><p><strong>Conclusion: </strong>For any boy presenting with urinary retention, we recommend a thorough urethral assessment; the absence of significant abnormalities in the urethra on voiding cystourethrography cannot rule out the presence of relevant PUV; hence, bladder endoscopy may sometimes be required for further evaluation, to rule out vesical calculus and potential PUVs.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"83-88"},"PeriodicalIF":0.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144092983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Association between Minimal Change Disease and Primary Biliary Cholangitis: Case Report.","authors":"Neeraj Sharma, Heidi Duong, Bahman Moghadam, Tachaporn Sangwattanarat","doi":"10.1159/000545015","DOIUrl":"https://doi.org/10.1159/000545015","url":null,"abstract":"<p><strong>Introduction: </strong>Primary biliary cholangitis (PBC) is a chronic and progressive cholestatic liver disease that is autoimmune in nature and characterized by circulating anti-mitochondrial antibodies. A wide range of autoimmune disorders have been concomitantly observed in patients with PBC, and although quite rare PBC has been associated with a wide variety of renal disorders. Glomerular diseases have a very rare association with PBC, and these include diffuse membranous glomerulonephritis and minimal change disease, which have been sparsely described in prior literature.</p><p><strong>Presentation: </strong>Here we present a case of biopsy-proven minimal change disease in a patient with PBC treated with a course of steroids and achieving complete recovery.</p><p><strong>Conclusion: </strong>Establishing the relationship between PBC and MCD has been limited in prior literature and should be kept in mind to bring forth this rare association, which may help dictate future treatment courses.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"78-82"},"PeriodicalIF":0.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling the Hidden Risks: Herbal Medicine-Induced Renal Damage - A Case Series Analysis.","authors":"Ashok Bhat, Rohan Desai, Mahesha Vankalakunti","doi":"10.1159/000545186","DOIUrl":"https://doi.org/10.1159/000545186","url":null,"abstract":"<p><strong>Introduction: </strong>Herbal medications have been utilized for centuries to treat various ailments, yet their potential to induce renal damage is often underestimated. The popularity of herbal remedies, especially in rural India, stems from cultural beliefs in their holistic healing properties.</p><p><strong>Case presentations: </strong>This case series comprises 4 patients exhibiting varied renal presentations linked to herbal medication usage. Notably, oxalate nephropathy emerged as a predominant finding. Through comprehensive clinical assessments and renal biopsies, we elucidated the pathophysiological mechanisms underlying herbal nephrotoxicity. Timely recognition and discontinuation of the offending herb, alongside tailored therapeutic interventions like corticosteroid administration, facilitated favourable patient outcomes.</p><p><strong>Conclusion: </strong>These cases underscore the importance of considering herbal remedies as potential culprits in renal dysfunction, particularly in regions where their usage is prevalent. Our findings emphasize the imperative for healthcare practitioners to proactively inquire about herbal medication use in patients with renal failure. Heightened awareness and further research into the safety and mechanisms of herbal nephrotoxicity are essential for optimizing patient care and preventing herb-induced kidney injury.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"15 1","pages":"60-69"},"PeriodicalIF":0.7,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12021384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}