Clinical nephrology. Case studies最新文献

Renal and cardiac biopsy findings in an adolescent patient with the 3243A>G mitochondrial DNA mutation: Favorable renal prognosis post renal transplantation from the mother. 一名线粒体 DNA 3243A>G 突变的青少年患者的肾脏和心脏活检结果：母亲肾移植后肾脏预后良好。

Clinical nephrology. Case studies Pub Date : 2024-06-25 eCollection Date: 2024-01-01 DOI: 10.5414/CNCS111422

Hisashi Kamido, Shigekazu Kurihara, Yuki Oba, Masayuki Yamanouchi, Tatsuya Suwabe, Katsuyuki Miki, Yuki Nakamura, Yasuo Ishi, Kei Kono, Kenichi Ohashi, Naoki Sawa, Yoshifumi Ubara

{"title":"Renal and cardiac biopsy findings in an adolescent patient with the 3243A>G mitochondrial DNA mutation: Favorable renal prognosis post renal transplantation from the mother.","authors":"Hisashi Kamido, Shigekazu Kurihara, Yuki Oba, Masayuki Yamanouchi, Tatsuya Suwabe, Katsuyuki Miki, Yuki Nakamura, Yasuo Ishi, Kei Kono, Kenichi Ohashi, Naoki Sawa, Yoshifumi Ubara","doi":"10.5414/CNCS111422","DOIUrl":"10.5414/CNCS111422","url":null,"abstract":"We investigated the pathogenesis of a perihilar variant of focal segmental glomerulosclerosis detected by kidney biopsy in a 16-year-old male. The disease was refractory to steroid therapy, and at the second kidney biopsy, abnormal mitochondrial proliferation was newly observed in the podocytes. The patient also developed late-onset hearing loss and had a family history of diabetes, and genetic testing confirmed the mitochondrial DNA mutation 3243A>G (48%). Eight months after hemodialysis was started, encephalopathy occurred presumably due to rapid dehydration. After changing dialysis into continuous ambulatory peritoneal dialysis, encephalopathy was resolved, but the patient developed myocardial hypertrophy, probably because of the myocardial overreaction to congestion. A myocardial biopsy showed mitochondrial proliferation in the myocardium. After renal transplantation from his mother with a heteroplasmy of 4%, the cardiomyopathy improved, and the renal function has remained stable for 4 years. We speculated that the abnormal mitochondrial morphology in the kidney and heart may be characteristic of mitochondrial genetic disease, and renal transplantation from the mother with a low heteroplasmy was considered desirable for mitochondrial nephropathy with poor prognosis.","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11218049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494750","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

A case of acquired thrombotic thrombocytopenic purpura following near-drowning. 一例溺水后获得性血栓性血小板减少性紫癜。

Clinical nephrology. Case studies Pub Date : 2024-05-03 eCollection Date: 2024-01-01 DOI: 10.5414/CNCS111301

Natnicha Leelaviwat, Shanti Parkash, Sharma Prabhakar

引用次数: 0

A pediatric case of atypical hemolytic uremic syndrome (aHUS): Could any infection play a triggering role? 一例非典型溶血性尿毒症（aHUS）儿科病例：任何感染都可能是诱因吗？

Clinical nephrology. Case studies Pub Date : 2024-04-05 eCollection Date: 2024-01-01 DOI: 10.5414/CNCS111209

Nikolaos Gkiourtzis, Paraskevi Panagopoulou, Kyriaki Papadopoulou-Legbelou, Sofia Chantavaridou, Despoina Tramma

{"title":"A pediatric case of atypical hemolytic uremic syndrome (aHUS): Could any infection play a triggering role?","authors":"Nikolaos Gkiourtzis, Paraskevi Panagopoulou, Kyriaki Papadopoulou-Legbelou, Sofia Chantavaridou, Despoina Tramma","doi":"10.5414/CNCS111209","DOIUrl":"https://doi.org/10.5414/CNCS111209","url":null,"abstract":"A 12-year-old boy was transferred to our pediatric department from a rural hospital for fever, cough, and vomiting associated with thrombocytopenia, non-immune hemolytic anemia, and acute kidney injury, leading to the diagnosis of hemolytic uremic syndrome (HUS). A nasopharyngeal swab and a lower respiratory sample detected Influenza A by polymerase chain reaction (PCR). The patient was treated with oseltamivir and intravenous fluids in addition to fresh frozen plasma (FFP). Enteropathogenic Escherichia coli (EPEC) was detected in a stool sample by PCR. Serum antibodies for Mycoplasma pneumoniae (IgM and IgG) and Helicobacter pylori (IgA and IgG) were increased. Further work-up revealed elevated serum C5b-9 suggesting a simultaneous viral and bacterial infection-mediated complement overactivation leading to the diagnosis of atypical HUS (aHUS). An association between aHUS and influenza A is reported in the literature, but the correlation of EPEC, Mycoplasma pneumoniae, and Helicobacter pylori with aHUS is not well-established. Fresh frozen plasma was administered for a total of 3 days, followed by clinical and laboratory improvement. The patient has remained asymptomatic until the latest follow-up, 5 months after discharge. This case demonstrates the potential triggering role of different pathogens in aHUS pathogenesis to raise awareness in the pediatric community.","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11002780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140862872","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

Improvement in proteinuria with sodium-glucose cotransporter 2 inhibitors and esaxerenone treatment in patients with chronic allograft kidney disease: A case report. 使用钠-葡萄糖共转运体 2 抑制剂和艾沙西酮治疗慢性同种异体移植肾病患者，可改善蛋白尿：病例报告。

Clinical nephrology. Case studies Pub Date : 2024-03-15 eCollection Date: 2024-01-01 DOI: 10.5414/CNCS111078

Shoichiro Daimon

{"title":"Improvement in proteinuria with sodium-glucose cotransporter 2 inhibitors and esaxerenone treatment in patients with chronic allograft kidney disease: A case report.","authors":"Shoichiro Daimon","doi":"10.5414/CNCS111078","DOIUrl":"10.5414/CNCS111078","url":null,"abstract":"Proteinuria is a predictor of end-stage renal disease. The effectiveness of an angiotensin-converting enzyme inhibitor or an angiotensin II receptor blocker for the reduction in urinary protein excretion and renoprotection in proteinuric chronic kidney disease patients is well known, and coadministration of and sodium-glucose cotransporter inhibitor and the mineralocorticoid receptor blocker eplerenone has recently demonstrated an additive albuminuria-lowering effect in chronic kidney disease patients. Proteinuria is also an independent predictor of end-stage renal disease in kidney transplant recipients. Sodium-glucose cotransporter 2 inhibitors were administered to a 60-year-old man with chronic allograft kidney disease who had increasing urinary protein excretion with valsartan treatment. Although urinary protein excretion decreased drastically, it later increased to the same levels. A nonsteroidal mineralocorticoid receptor blocker, esaxerenone, was added to these medications, again resulting in a decrease in urinary protein excretion. Although the long-term renoprotective effect is not known, these medicines are promising and safe agents to reduce urinary protein excretion in patients with chronic allograft kidney disease.","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10955327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186769","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

Massive acetaminophen ingestion managed successfully with N-acetylcysteine, fomepizole, and renal replacement therapy. 通过 N-乙酰半胱氨酸、福美唑和肾脏替代疗法成功控制了对乙酰氨基酚的大量摄入。

Clinical nephrology. Case studies Pub Date : 2024-03-02 eCollection Date: 2024-01-01 DOI: 10.5414/CNCS111275

Elizabeth E Williams, Duc Quach, Arthur Daigh

{"title":"Massive acetaminophen ingestion managed successfully with N-acetylcysteine, fomepizole, and renal replacement therapy.","authors":"Elizabeth E Williams, Duc Quach, Arthur Daigh","doi":"10.5414/CNCS111275","DOIUrl":"10.5414/CNCS111275","url":null,"abstract":"Acetaminophen ingestion is routinely managed with the antidote, N-acetylcysteine (NAC). Massive acetaminophen poisoning has been treated successfully with adjunctive therapies such as fomepizole and hemodialysis. Fomepizole functions by inhibiting cytochrome p560, which prevents tylenol from forming its toxic metabolite, NAPQI. Prior cases have demonstrated favorable outcomes and a significant drop in acetaminophen levels after a single session of intermittent hemodialysis and continuous veno-venous hemofiltration (CVVH). However, the recommended dosage adjustments of NAC and fomepizole while a patient is undergoing CVVH has not been well reported. We present a case of an 18-year-old male who presented after ingesting 125 g of tylenol. His 4-hour acetaminophen level was 738.6 µg/mL. He was treated with NAC, fomepizole, and a single 4-hour session of hemodialysis. His acetaminophen level remained elevated at 730 µg/mL despite the hemodialysis session. CVVH was initiated, and he was given intravenous NAC at 12.5 mg/kg/h, oral NAC at 70 mg/kg every 4 hours, and intravenous fomepizole at 10 mg/kg every 6 hours. His tylenol levels became undetectable 57 hours after ingestion, and he did not develop permanent liver toxicity. This case encourages the use of CVVH for massive tylenol ingestion when a single run of intermittent hemodialysis is not effective in lowering the tylenol level. NAC, fomepizole, and CVVH can prevent unfavorable outcomes in massive acetaminophen ingestion when provided at an appropriate dose and frequency.","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10913534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140041226","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

Monoclonal gammopathy of renal significance: An atypical presentation of Waldenström's disease. 具有肾脏意义的单克隆丙种球蛋白病：瓦尔登斯特伦病的一种非典型表现。

Clinical nephrology. Case studies Pub Date : 2024-02-08 eCollection Date: 2024-01-01 DOI: 10.5414/CNCS111200

Pablo Rodríguez-Doyágüez, Motornaya-Morozova, Patricia Martínez-Miguel, Carolina Castillo-Torres, Óscar Toldos-González, Juan José Gil-Fernández

{"title":"Monoclonal gammopathy of renal significance: An atypical presentation of Waldenström's disease.","authors":"Pablo Rodríguez-Doyágüez, Motornaya-Morozova, Patricia Martínez-Miguel, Carolina Castillo-Torres, Óscar Toldos-González, Juan José Gil-Fernández","doi":"10.5414/CNCS111200","DOIUrl":"10.5414/CNCS111200","url":null,"abstract":"Waldenström's disease is a rare lymphoproliferative syndrome in the bone marrow and sometimes in lymphoid organs which secretes high amounts of monoclonal immunoglobulin M into serum. It can remain indolent for years and rarely affects the kidney, with intraglomerular rather than intratubular damage being predominant, in contrast to multiple myeloma. Different studies identified AL amyloidosis as the most frequent renal lesion, followed by cryoglobulinemic glomerulonephritis. Signs and symptoms may be unspecific, as well as renal manifestations, so collaboration between nephrologists, hematologists, and pathologists is crucial to establish the role of paraprotein in the development of renal damage. We present an atypical case of Waldenström's disease that had a minimal monoclonal peak and clinically debuted with nephritic and nephrotic syndromes. The diagnosis was cryoglobulinemic glomerulonephritis. Currently, there are numerous treatment options, without enough evidence yet to establish a standardised treatment.","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10862989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139731451","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

A case report of atypical anti-glomerular basement membrane nephritis associated with Mycobacterium Avium. 与禽分枝杆菌相关的非典型抗肾小球基底膜肾炎病例报告。

Clinical nephrology. Case studies Pub Date : 2024-01-12 eCollection Date: 2024-01-01 DOI: 10.5414/CNCS111254

Julie Bech Jensen, Eva Gravesen, Sidse Graff Jensen, Iain Bressendorff

引用次数: 0

Calciphylaxis, beware the ophthalmic mimic: A case series. 钙化性紫癜，小心眼科疑似病例：病例系列。

Clinical nephrology. Case studies Pub Date : 2023-12-12 eCollection Date: 2023-01-01 DOI: 10.5414/CNCS111088

Chelsea Guymer, Sadia Jahan, Bobak Bahrami, David Sia, Bee Qung Tan, Stephen McDonald, Sumu Simon

引用次数: 0

Concomitant presentation of thrombotic thrombocytopenic purpura, immune thrombocytopenia, and autoimmune hemolytic anemia in a patient with newly diagnosed systemic lupus erythematosus. 一名新确诊的系统性红斑狼疮患者同时出现血栓性血小板减少性紫癜、免疫性血小板减少症和自身免疫性溶血性贫血。

Clinical nephrology. Case studies Pub Date : 2023-12-12 eCollection Date: 2023-01-01 DOI: 10.5414/CNCS111193

Lina Bruns, Linus Völker, Robert Klamroth, Martin K Kuhlmann, Wolfram J Jabs

{"title":"Concomitant presentation of thrombotic thrombocytopenic purpura, immune thrombocytopenia, and autoimmune hemolytic anemia in a patient with newly diagnosed systemic lupus erythematosus.","authors":"Lina Bruns, Linus Völker, Robert Klamroth, Martin K Kuhlmann, Wolfram J Jabs","doi":"10.5414/CNCS111193","DOIUrl":"10.5414/CNCS111193","url":null,"abstract":"Thrombocytopenia is always of concern when encountered in emergency settings. We report a case of a 29-year-old women in whom a unique constellation of hematological disorders occurred. The patient had been diagnosed with idiopathic immune thrombocytopenia (ITP) in 2007, with a history of several thrombocytopenic flares. She now presented with homonymous hemianopia accompanied by thrombocytopenia and microangiopathic hemolytic anemia (MAHA) and was soon after diagnosed with a posterior stroke. Symptoms were more reminiscent of acquired thrombotic thrombocytopenic purpura (aTTP) rather than ITP. Immediate treatment with plasma exchange and caplacizumab curtailed MAHA, and progressive ischemic disease was averted. ADAMTS-13 testing confirmed the diagnosis of immune-mediated aTTP. Repeated testing for ITP, however, also showed IgG-loaded thrombocytes with the former known anti-GPIIb/IIIa specificity. Furthermore, autoimmune hemolytic anemia (AIHA) could be detected by direct antiglobulin test showing IgG and complement loading of the patient's erythrocytes. The autoimmune background of all three entities suggested an underlying systemic disease. Indeed, systemic lupus erythematosus (SLE) serology was strongly positive allowing for the diagnosis of SLE. ITP and AIHA as well as aTTP can be secondary to SLE, but emergence of all three disorders has not been reported at the same time.","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10759207/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139089897","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