Case Reports in Nephrology and Dialysis最新文献

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Successful Repeated Use of a Pathogen Adsorbing Biomimetic Device for the Adjunct Treatment of a SARS-CoV-2 Reinfection and Subsequent Infections with Different Multiresistant Bacteria. 成功重复使用病原体吸附生物仿生装置辅助治疗 SARS-CoV-2 再感染和不同多重耐药菌的后续感染。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-10-17 eCollection Date: 2024-01-01 DOI: 10.1159/000541422
Reuben Okioma, Khalida Soki, Alexander Hay, Jan T Kielstein
{"title":"Successful Repeated Use of a Pathogen Adsorbing Biomimetic Device for the Adjunct Treatment of a SARS-CoV-2 Reinfection and Subsequent Infections with Different Multiresistant Bacteria.","authors":"Reuben Okioma, Khalida Soki, Alexander Hay, Jan T Kielstein","doi":"10.1159/000541422","DOIUrl":"https://doi.org/10.1159/000541422","url":null,"abstract":"<p><strong>Introduction: </strong>The Seraph<sup>®</sup> 100 Microbind<sup>®</sup> Affinity Filter is a biomimetic adsorbent device that can remove pathogens from the blood.</p><p><strong>Case presentation: </strong>Here, we report the successful use of the Seraph<sup>®</sup> 100 to treat both a SARS-CoV-2 reinfection leading to severe COVID-19 pneumonia as well as subsequent secondary lung infections including Acinetobacter baumannii, Serratia marcescens, and Pseudomonas aeruginosa multidrug-resistant bacteria. To our knowledge, this 46-year-old black male is the first patient in which four treatments with this pathogen adsorber, one for a viral and three for different bacterial infections, have been successfully used.</p><p><strong>Conclusion: </strong>The Seraph<sup>®</sup> 100 can be easily and successfully used in conjunction with standard (anti-infective) treatment.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"171-177"},"PeriodicalIF":0.7,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543889","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}
引用次数: 0
Recurrent Fibrillary Glomerulonephritis Secondary to Chronic Lymphocytic Leukemia: Remission of Kidney Disease with Ibrutinib. 继发于慢性淋巴细胞白血病的复发性纤维性肾小球肾炎:伊布替尼缓解了肾病。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-10-15 eCollection Date: 2024-01-01 DOI: 10.1159/000539742
Rafeea Shah, Bindu Vydianath, Guy Pratt, Jennifer Pinney
{"title":"Recurrent Fibrillary Glomerulonephritis Secondary to Chronic Lymphocytic Leukemia: Remission of Kidney Disease with Ibrutinib.","authors":"Rafeea Shah, Bindu Vydianath, Guy Pratt, Jennifer Pinney","doi":"10.1159/000539742","DOIUrl":"https://doi.org/10.1159/000539742","url":null,"abstract":"<p><strong>Introduction: </strong>Fibrillary glomerulonephritis (FGN) is a rare form of glomerular disease that accounts for less than 1 percent of all renal biopsies. It is characterized by pathognomonic electron microscopy findings of fibrillar deposits in the mesangium and glomerular capillary walls. FGN was initially considered to be an idiopathic disorder. However, approximately 30-50 percent of patients have a secondary cause, including a history of malignancy in up to 23% of cases. Chronic lymphocytic leukemia (CLL) is a rare cause of FGN, with limited data and poor prognosis.</p><p><strong>Case presentation: </strong>In this report, we present the case of a 69-year-old male who was diagnosed with CLL in 2013 and was initially managed conservatively. In 2016, he developed nephrotic syndrome and renal impairment. Renal biopsy showed FGN, and treatment was targeted to the CLL with bendamustine and rituximab, which led to partial remission of nephrotic syndrome and improvement in renal function. After 3 years of clinical remission, the nephrotic syndrome relapsed, and he underwent a repeat renal biopsy confirming ongoing FGN. A bone marrow biopsy confirmed CLL relapse, and the patient was treated with ibrutinib (a tyrosine kinase inhibitor). The patient achieved a significant organ response and sustained remission.</p><p><strong>Conclusion: </strong>This case highlights the success of treating a potentially identifiable cause of FGN and highlights that even at relapse, treatment can confer benefits and help prevent end-stage renal failure.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"164-170"},"PeriodicalIF":0.7,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543888","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}
引用次数: 0
Long-Term Observation of Focal Segmental Glomerulosclerosis after Treatment of Renal Parenchymal Malakoplakia: A Case Report. 肾实质马立克氏斑治疗后局灶节段性肾小球硬化的长期观察:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-10-07 eCollection Date: 2024-01-01 DOI: 10.1159/000540877
Reiji Takami, Yoshikuni Nagayama, Hiroki Nishiwaki, Toshiharu Ueno, Shigeki Iwasaki, Ashio Yoshimura, Fumihiko Koiwa
{"title":"Long-Term Observation of Focal Segmental Glomerulosclerosis after Treatment of Renal Parenchymal Malakoplakia: A Case Report.","authors":"Reiji Takami, Yoshikuni Nagayama, Hiroki Nishiwaki, Toshiharu Ueno, Shigeki Iwasaki, Ashio Yoshimura, Fumihiko Koiwa","doi":"10.1159/000540877","DOIUrl":"https://doi.org/10.1159/000540877","url":null,"abstract":"<p><strong>Introduction: </strong>Malakoplakia is a rare and chronic granulomatous disease that is pathologically characterized by the presence of Michaelis-Gutmann bodies and large macrophage clusters. Malakoplakia of the renal parenchyma is especially rare. In this report, we describe the long-term prognosis of a patient who was diagnosed with and treated for renal parenchymal malakoplakia in infancy.</p><p><strong>Case presentation: </strong>Seventeen years after malakoplakia onset, the patient presented to us with worsening proteinuria. Computed tomography revealed structural abnormalities in the kidney, and focal segmental glomerulosclerosis (FSGS) was diagnosed based on renal biopsy findings. No Michaelis-Gutmann bodies were observed in von Kossa-stained biopsy specimens. Regular outpatient monitoring during the next 9 years showed gradual deterioration of renal function and a moderately high protein/creatinine ratio.</p><p><strong>Conclusion: </strong>Our findings suggest that structural changes due to malakoplakia can cause FSGS. Moreover, structural changes indicate the healing of malakoplakia in infancy and the disappearance of its characteristic lesions over time. Owing to its long-term observation period, this unique case provides new insights into the outcomes of patients with renal parenchymal malakoplakia.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"158-163"},"PeriodicalIF":0.7,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543920","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}
引用次数: 0
JC Polyomavirus Nephropathy: A Rare Complication Late after Kidney Transplantation. JC 多瘤病毒肾病:肾移植术后晚期的罕见并发症。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-08-29 eCollection Date: 2024-01-01 DOI: 10.1159/000540294
Jennifer Scotti Gerber, Sara De Marchi, Ariana Gaspert, Thomas Fehr, Pietro E Cippà
{"title":"JC Polyomavirus Nephropathy: A Rare Complication Late after Kidney Transplantation.","authors":"Jennifer Scotti Gerber, Sara De Marchi, Ariana Gaspert, Thomas Fehr, Pietro E Cippà","doi":"10.1159/000540294","DOIUrl":"https://doi.org/10.1159/000540294","url":null,"abstract":"<p><strong>Introduction: </strong>JC-polyomavirus-associated nephropathy (JC-PVAN) is a rare cause of allograft dysfunction with only a few cases described in the literature.</p><p><strong>Case presentation: </strong>We present 2 cases of JC-PVAN, both of which occurred >5 years after kidney transplantation. In both cases, transplant biopsies were performed because of worsening of kidney function. We found tubulitis and interstitial inflammation; immunohistochemistry was positive for SV40, but BK virus was not detected. The presence of JC virus confirmed the diagnosis of JC-PVAN. Immunosuppressive therapy was adopted, but in both cases graft function progressively deteriorated.</p><p><strong>Conclusions: </strong>Our cases show that JC-PVAN, although much rarer than BK-PVAN, should be considered a possible cause of graft dysfunction even years after transplantation. Complete diagnostic workup, including kidney biopsy, is crucial for correct diagnosis and treatment.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"148-157"},"PeriodicalIF":0.7,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543919","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}
引用次数: 0
First Successful Treatment of a Patient with a Primary Immune Complex-Membranoproliferative Glomerulonephritis with Iptacopan: A Case Report. 伊帕克潘首次成功治疗原发性免疫复合物-膜增生性肾小球肾炎患者:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-08-07 eCollection Date: 2024-01-01 DOI: 10.1159/000540013
Simone Arnold, Manuela Nickler, Michael Dickenmann, Thomas Menter, Helmut Hopfer, Patricia Hirt-Minkowski
{"title":"First Successful Treatment of a Patient with a Primary Immune Complex-Membranoproliferative Glomerulonephritis with Iptacopan: A Case Report.","authors":"Simone Arnold, Manuela Nickler, Michael Dickenmann, Thomas Menter, Helmut Hopfer, Patricia Hirt-Minkowski","doi":"10.1159/000540013","DOIUrl":"10.1159/000540013","url":null,"abstract":"<p><strong>Introduction: </strong>Nowadays, there is insufficient evidence for the recommendation of management patients with a primary membranoproliferative glomerulonephritis (MPGN). A better understanding of the pathogenesis has led to the reclassification of primary MPGN and distinction into the two main entities of either primary immune complex-MPGN or C3 glomerulopathy. Both entities share overlapping pathophysiological features with complement alternative pathway (AP) dysregulation. Iptacopan is an oral inhibitor of the complement factor B that effectively blocks the complement AP.</p><p><strong>Case presentation: </strong>We report the first successful treatment of a 47-year-old man suffering from a primary immune complex-MPGN with iptacopan. So far established immunosuppressive therapies with prednisone and mycophenolate mofetil failed to control the current flare of the disease, mainly presenting with impaired kidney function and proteinuria within the nephrotic range. However, 3 months after starting the treatment with iptacopan urine protein-creatinine ratio decreased impressively to a level of 100-150 mg/mmol. Thereafter, low-level proteinuria and kidney function remained stable during follow-up. Do date, the treatment with iptacopan is continued as a monotherapy and is well tolerated.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first case report which suggests that iptacopan may be an interesting treatment option for primary immune complex-MPGN.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"138-147"},"PeriodicalIF":0.7,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906039","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}
引用次数: 0
Renal Impairment of Proximal Tubular Injury Caused by Red Yeast Rice Supplement: Report of 2 Cases. 红麴补充剂引起近端肾小管损伤的肾功能损害:两个病例的报告
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-07-25 eCollection Date: 2024-01-01 DOI: 10.1159/000540258
Kazuhiro Takeuchi, Sayumi Kawamura, Yukihiro Wada, Emi Sakamoto, Hideaki Kuno, Shun Sakurabayashi, Tomomi Motohashi, Hiroyuki Okawa, Naohiro Kawamura, Shokichi Naito, Togo Aoyama, Akira Shimizu, Yasuo Takeuchi
{"title":"Renal Impairment of Proximal Tubular Injury Caused by Red Yeast Rice Supplement: Report of 2 Cases.","authors":"Kazuhiro Takeuchi, Sayumi Kawamura, Yukihiro Wada, Emi Sakamoto, Hideaki Kuno, Shun Sakurabayashi, Tomomi Motohashi, Hiroyuki Okawa, Naohiro Kawamura, Shokichi Naito, Togo Aoyama, Akira Shimizu, Yasuo Takeuchi","doi":"10.1159/000540258","DOIUrl":"10.1159/000540258","url":null,"abstract":"<p><strong>Introduction: </strong>Drug-induced tubulointerstitial injury is a common cause of renal impairment. Since the mechanisms of drug-induced tubular injury are diverse, various treatment approaches are needed according to the pathogenesis. Renal biopsy is indispensable to determine not only the pathological diagnosis, but also the underlying mechanism, and to guide appropriate treatment. Most recently, one of the red yeast supplements has been widely highlighted as a novel cause of tubular damage, mainly in Japan and Asia. However, neither detailed pathological findings nor the mechanism of renal impairment has been sufficiently reported.</p><p><strong>Case presentation: </strong>Two cases of renal impairment after taking red yeast supplement internally are presented. Both cases showed renal dysfunction with low uric acid, potassium, and phosphorus levels, characteristic features of Fanconi syndrome. The renal biopsy findings of both cases showed severe injury to the proximal tubules with mild inflammatory cell infiltration. The proximal tubules exhibited diffuse loss of the brush border, flattening, and tubular lumen dilation. Immunofluorescence showed no deposition of immunoglobulin and complement in the glomeruli and tubules. Electron microscopic findings indicated proximal tubular damage without crystal deposition. Moreover, immunohistochemistry using the proximal tubular marker CD10 and a marker for distal tubules including the loop of Henle, E-cadherin, collectively demonstrated that the focus of renal injury in both cases was mainly the proximal tubules.</p><p><strong>Conclusions: </strong>The red yeast rice supplement itself, its metabolized product, or other unknown contaminant components might directly induce proximal tubulopathy rather than an allergic reaction-related tubulointerstitial nephritis.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"128-137"},"PeriodicalIF":0.7,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906041","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}
引用次数: 0
Individualized Decision-Making and Outcomes for the 87-Year-Old Living Kidney Donor: A Case Report. 87 岁活体肾脏捐献者的个性化决策和结果:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-07-17 eCollection Date: 2024-01-01 DOI: 10.1159/000539772
Dana Kigitovica, Viktorija Kuzema, Janis Jusinskis, Veronika Mesecko, Vadims Suhorukovs, Aivars Petersons, Ieva Ziedina
{"title":"Individualized Decision-Making and Outcomes for the 87-Year-Old Living Kidney Donor: A Case Report.","authors":"Dana Kigitovica, Viktorija Kuzema, Janis Jusinskis, Veronika Mesecko, Vadims Suhorukovs, Aivars Petersons, Ieva Ziedina","doi":"10.1159/000539772","DOIUrl":"10.1159/000539772","url":null,"abstract":"<p><strong>Introduction: </strong>Latvia faces a challenging shortage of available kidney donors, leading to a significant mismatch between demand for kidney transplantation and supply. Although older adult donors require a thorough pre-donation workup to rule out significant medical comorbidities, it offers hope for potential kidney transplantation candidates.</p><p><strong>Case presentation: </strong>This case study presents the unique scenario of an 87-year-old living kidney donor, where individualized decision-making resulted in outstanding outcomes for both the donor and recipient.</p><p><strong>Conclusions: </strong>The initial assessment for donation, which involves renal scintigraphy, serves as a preventive measure. In cases where one of the kidneys exhibits insufficient function, this approach avoids the necessity for further costly tests, thus preserving resources in the healthcare budget. The decision concerning an older donor should undergo thorough discussion by a multidisciplinary team to minimize perioperative and long-term risks. Nonetheless, a thoughtful approach to elderly donors offers a valuable opportunity to expand the living donor pool in the context of the organ shortage problem.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"122-127"},"PeriodicalIF":0.7,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906040","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}
引用次数: 0
Unveiling Neglected Concerns: Possible Severe Hepatic Complications after Nephrectomy in Autosomal Dominant Polycystic Kidney Disease - A Case Report. 揭开被忽视的问题:常染色体显性遗传多囊肾肾病肾切除术后可能出现的严重肝脏并发症--病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-07-15 eCollection Date: 2024-01-01 DOI: 10.1159/000538951
Liliana Italia De Rosa, Martina Catania, Francesca Tunesi, Marta Vespa, Romina Bucci, Kristiana Kola, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi
{"title":"Unveiling Neglected Concerns: Possible Severe Hepatic Complications after Nephrectomy in Autosomal Dominant Polycystic Kidney Disease - A Case Report.","authors":"Liliana Italia De Rosa, Martina Catania, Francesca Tunesi, Marta Vespa, Romina Bucci, Kristiana Kola, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi","doi":"10.1159/000538951","DOIUrl":"10.1159/000538951","url":null,"abstract":"<p><strong>Introduction: </strong>Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and the 4th leading cause of renal replacement therapy in the world. ADPKD is a systemic disorder as cysts may develop in several organs. Liver cysts are the most common extrarenal manifestations and are often incidentally detected. Even though cysts do not influence liver function, they can grow to a very great size and can significantly enlarge liver volume, causing structural distortion of the biliary tree and patient discomfort due to the mass effect. Nephrectomy is frequently considered in preparation for renal transplantation in patients with remarkable kidneys' enlargement. There are currently no globally recognized clinical guidelines for nephrectomy. Although cysts do not normally affect liver function in ADPKD, after nephrectomy cases of liver fibrosis and Budd-Chiari have been reported. These are uncommon disorders due to the obstruction of the blood flow in the hepatic venous causing spleen and liver volume enlargement, portal hypertension, and hepatic cirrhosis.</p><p><strong>Case presentation: </strong>We present a case of hepatic fibrosis with splenomegaly and severe pancytopenia as a tardive complication after bilateral nephrectomy in 47-year-old ADPKD patient.</p><p><strong>Conclusion: </strong>This finding underscores the critical significance of meticulously examining the anatomical relationship between polycystic kidneys and the liver before performing nephrectomy. Additionally, it highlights the importance of assessing liver involvement and associated complications. By integrating liver assessment into the criteria, we can significantly enhance patient care and improve the overall management of ADPKD before kidney transplantation.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"116-121"},"PeriodicalIF":0.7,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626049","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}
引用次数: 0
An Unusual Presentation of Myeloperoxidase-Associated Glomerulonephritis and Suspected IgA-Mediated Anti-Glomerular Basement Membrane Disease: A Case Report. 髓过氧化物酶相关性肾小球肾炎和疑似 IgA 介导的抗肾小球基底膜病的异常表现:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-07-11 eCollection Date: 2024-01-01 DOI: 10.1159/000538973
Ciaran Twomey Brenner, Sujit Saha, Kate Bramham, Katie Vinen, Catherine Horsfield, Eirini Lioudaki
{"title":"An Unusual Presentation of Myeloperoxidase-Associated Glomerulonephritis and Suspected IgA-Mediated Anti-Glomerular Basement Membrane Disease: A Case Report.","authors":"Ciaran Twomey Brenner, Sujit Saha, Kate Bramham, Katie Vinen, Catherine Horsfield, Eirini Lioudaki","doi":"10.1159/000538973","DOIUrl":"10.1159/000538973","url":null,"abstract":"<p><strong>Introduction: </strong>Anti-glomerular basement membrane (GBM) disease is a rare cause of glomerulonephritis usually mediated by IgG antibodies and is associated with ANCA-associated glomerulonephritis in up to 50% of cases. IgA-mediated anti-GBM disease is extremely rare and presents diagnostic difficulties as circulating IgA antibodies will not be detected by standard serological tests for anti-GBM disease.</p><p><strong>Case presentation: </strong>We present the case of a 67-year-old man with rapidly progressive glomerulonephritis requiring haemodialysis at presentation. Serological testing was positive for anti-myeloperoxidase and negative for IgG anti-GBM antibodies. Kidney biopsy revealed necrotizing crescentic glomerulonephritis with linear staining of IgA along the GBM. He was treated with a combination of immunosuppression and plasma exchange and was able to become dialysis-independent.</p><p><strong>Conclusion: </strong>To our knowledge, this is the first documented \"double-positive\" IgA anti-GBM disease and ANCA-associated glomerulonephritis.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"110-115"},"PeriodicalIF":0.7,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629701","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}
引用次数: 0
The First Pediatric Case of an IFT140 Heterozygous Deletion Causing Autosomal Dominant Polycystic Kidney Disease: Case Report. 首例 IFT140 杂合子缺失导致常染色体显性多囊肾的儿科病例:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-07-01 eCollection Date: 2024-01-01 DOI: 10.1159/000539176
Tomáš Seeman, Terezie Šuláková, Alice Bosáková, Jana Indráková, Dagmar Grečmalová
{"title":"The First Pediatric Case of an IFT140 Heterozygous Deletion Causing Autosomal Dominant Polycystic Kidney Disease: Case Report.","authors":"Tomáš Seeman, Terezie Šuláková, Alice Bosáková, Jana Indráková, Dagmar Grečmalová","doi":"10.1159/000539176","DOIUrl":"10.1159/000539176","url":null,"abstract":"<p><strong>Introduction: </strong>Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, which is mainly caused by pathogenic variants in two particular genes: <i>PKD1</i> and <i>PKD2</i>. ADPKD caused by variants in other genes (<i>GANAB</i> or <i>IFT140</i>) is very rare.</p><p><strong>Case report: </strong>In a 6-year-old girl examined for abdominal pain, a cystic mass in the upper part of the right kidney was detected during an abdominal ultrasound. She was referred to pediatric oncology and urology for suspicion of a tumorous mass and the condition was assessed as a cystic nephroma. A heminephrectomy was then performed on the upper cystic part of the right kidney. The histological examination was inconclusive; therefore, genetic testing was recommended. Kidney and liver cysts were detected sonographically in the mother, but DNA analysis of the <i>PKD1</i> and <i>PKD2</i> genes did not reveal any pathogenic variant; the cause of the pathological formation in the kidneys remained unclear. Nine years later, next-generation sequencing of a panel of genes for kidney disease was performed and a heterozygous deletion was found on chromosome 16; this included exon 13 of the <i>IFT140</i> gene. The same deletion was found in the patient's mother. Currently, the patient is 14 years old and has mild sonographic findings, normal glomerular filtration, mild proteinuria, and hypertension.</p><p><strong>Conclusion: </strong>Pathogenic variants of the <i>IFT140</i> gene very rarely cause ADPKD; however, they should be considered in all children with autosomal dominant forms of PKD and asymmetric/atypical cystic kidney involvement or negative findings of <i>PKD1</i> and <i>PKD2</i>.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"104-109"},"PeriodicalIF":0.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626048","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}
引用次数: 0
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