Clinical nephrology. Case studies最新文献

{"title":"Atypical presentation of H1N1-induced thrombotic microangiopathy with CD46 gene mutation\u2029.","authors":"Aman Pal, Emmanuel Aydin-Ghormoz, Swati Mehta, M J Hajianpour, Emily Gaine, Muhammad Ali Zia, Elie Tannous, Andrea Lightle, Krishnakumar Hongalgi","doi":"10.5414/CNCS111525","DOIUrl":"10.5414/CNCS111525","url":null,"abstract":"<p><strong>Introduction: </strong>Thrombotic microangiopathy (TMA) is a pathological description which clinically presents with thrombocytopenia, microangiopathic hemolytic anemia (MAHA), and organ dysfunction. The etiology of TMA is broadly classified into four categories: primary hereditary, primary acquired, secondary, and infection associated. H1N1 influenza is a rare etiology of complement-mediated TMA (CM-TMA) with there being under 30 cases reported to date, and its odd presentation with hemoptysis making it a challenge to diagnose.</p><p><strong>Case presentation: </strong>We present a case of a Caucasian female in her 20s presenting to the hospital with a viral prodrome in setting of a new acute kidney injury (creatinine 8.2 mg/dL), thrombocytopenia (platelet count 14,000/mm³), and H1N1 influenza positive. She developed hemoptysis the next day, with no respiratory distress. Rheumatology work-up for antineutrophilic cytoplasmic antibodies (ANCA), anti-glomerular basement membrane (anti-GBM), and antiphospholipid syndrome (APS) antibodies was negative. CT chest was also negative for pulmonary hemorrhage. Plasma exchange was started empirically until ADAMTS13 activity returned normal (120%), and she was further commenced on eculizumab after an atypical hemolytic uremic syndrome (aHUS)/TMA/Complement 3 Glomerulopathy (C3G) gene panel was sent. Molecular studies revealed a splice site variant of MCP/CD46 gene, which was reiterated on a renal biopsy. The patient was counselled on the genetic results, including predisposition to future events and the importance of long-term eculizumab treatment.</p><p><strong>Discussion: </strong>CM-TMA is a consequence of alternative pathway dysregulation, commonly associated with genetic mutations which could phenotypically be unmasked by infections, such as influenza virus.</p><p><strong>Conclusion: </strong>Our case highlights the importance of keeping a broad differential beyond classic pulmonary-renal syndromes in patients presenting with hemoptysis and TMA, while understanding the pathophysiology of infections unmasking genetic mutations in CM-TMA.\u2029.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"13 ","pages":"28-36"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924108/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143672083","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":"A case report of renal oxalosis and secondary hyperoxaluria due to chronic high vitamin C consumption.","authors":"Ioannis Eleftherios Neofytou, Georgios Lioulios, Emmanouil Almaliotis, Dimitra Vasilia Daikidou, Aikaterini Mplatsa, Elias Minasidis","doi":"10.5414/CNCS111462","DOIUrl":"10.5414/CNCS111462","url":null,"abstract":"<p><p>Renal oxalosis occurs from supersaturation of the urine with oxalate in the presence of calcium, resulting in deposition of calcium oxalate crystals within renal tissue and, consequently, progressive renal disease. One of the causes of secondary hyperoxaluria is a high intake of vitamin C, which exceeds the renal excretion capacity, and can induce renal oxalosis. We present a case involving a 67-year-old patient with chronic kidney disease and proteinuria, associated with secondary hyperoxaluria and renal oxalosis, who reported prolonged, excessive intake of vitamin C supplements. The patient presented with a gradual worsening of his renal function and proteinuria during the last 6-month period, after an episode of SARS-CoV-2 infection. The kidney biopsy revealed calcium oxalate crystals within the renal tissue. Thorough investigation and history-taking revealed a substantial increase in vitamin C supplementation during the SARS-CoV-2 infection (up to 3 g daily), indicating secondary hyperoxaluria as the causative factor. Overall during the pandemic, supplement consumption dramatically increased and patients were not adequately informed about the risks of various over-the-counter products. Excessive intake of vitamin C, popularized for its supposed health benefits, can lead, among others, to secondary hyperoxaluria and renal oxalosis. Prompt recognition is pivotal to initiate management and to prevent irreversible kidney damage.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"13 ","pages":"18-27"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143672170","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":"Secondary congenital nephrotic syndrome complicated by acute mesenteric ischemia: A case report.","authors":"Gita Benbrahim Ansari, Hanane Aboufaris, Zineb Hammoumi, Mounia Al Zemmouri, Kenza Bouayed","doi":"10.5414/CNCS111438","DOIUrl":"10.5414/CNCS111438","url":null,"abstract":"<p><p>Thromboembolic events are among the most serious, yet rare complications of nephrotic syndrome. While peripheral venous thrombosis and pulmonary embolism are the most common, superior mesenteric artery thrombosis is a rare but life-threatening occurrence. We present a case of severe cytomegalovirus (CMV) infection complicated by congenital nephrotic syndrome, leading to mesenteric ischemia.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"13 ","pages":"13-17"},"PeriodicalIF":0.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11895837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607714","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":"Non-uremic calciphylaxis: A dermatologic complication in both MASH and alcohol-associated cirrhosis.","authors":"Dylan Rose Balter, Yueming Cao, James Garritano, Goran Micevic, Andrew Sanchez","doi":"10.5414/CNCS111578","DOIUrl":"10.5414/CNCS111578","url":null,"abstract":"<p><p>A woman with metabolic dysfunction-associated steatohepatitis (MASH) cirrhosis presented to our hospital with hepatic encephalopathy, acute kidney injury, and painful skin lesions. A skin biopsy and broad work-up led to a diagnosis of non-uremic calciphylaxis. Despite treatment with IV sodium thiosulfate therapy, the patient ultimately passed away from infectious complications. This case highlights the need to recognize non-uremic calciphylaxis, which is a dermatologic complication associated with both alcohol-associated and MASH cirrhosis. While treatment options are currently limited, recognition of non-uremic calciphylaxis is crucial for enabling honest conversations with patients about prognosis.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"13 ","pages":"8-12"},"PeriodicalIF":0.0,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11823000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416653","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":"Minimal change disease in treatment-naïve hepatitis C virus infection: A case report and literature review.","authors":"Juliano Alhaddad, Hazim Allos, Dimo Dimitrov, Claudia M Nader, Helmut G Rennke, Bertrand L Jaber","doi":"10.5414/CNCS111506","DOIUrl":"10.5414/CNCS111506","url":null,"abstract":"<p><p>Minimal change disease (MCD) accounts for 10 - 15% of idiopathic nephrotic syndromes in adults. Chronic hepatitis C virus (HCV) infection is rarely ascribed as a cause of MCD and was previously associated with interferon-based therapy. MCD in treatment-naïve chronic HCV infection is extremely rare, with only 3 cases reported in the literature. We report on a 67-year-old woman presenting with acute nephrotic syndrome and severe acute kidney injury requiring short-term dialysis. She was initially treated empirically with glucocorticoids and underwent a kidney biopsy that revealed MCD with evidence of acute tubular necrosis and mild focal acute interstitial nephritis. An extensive work-up was only significant for the presence of anti-HCV antibody with an elevated HCV viral load of genotype 1b. Her kidney function recovered, and she was discharged on an oral prednisone course with a planned taper. 4.5 months later, her HCV infection was treated with ledipasvir and sofosbuvir, and she achieved sustained virological response. The nephrotic syndrome remained in remission 24 months after initial presentation. This is a unique case where sustained remission of both the nephrotic syndrome and the HCV infection were achieved with glucocorticoids and direct antiviral agents, respectively.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"13 ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019675","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":"Significant response to tocilizumab in a case of immune deposits-related membranoproliferative glomerulonephritis and tubulointerstitial nephritis complicated by multicentric Castleman's disease.","authors":"Hisashi Sugimoto, Naoki Sawa, Daisuke Ikuma, Yuki Oba, Hiroki Mizuno, Akinari Sekine, Masayuki Yamanouchi, Eiko Hasegawa, Tatsuya Suwabe, Takehiko Wada, Kei Kono, Keiichi Kinowaki, Kenichi Ohashi, Kazuho Honda, Yukiko Kanetsuna, Kensuke Joh, Yutaka Yamaguchi, Yoshifumi Ubara","doi":"10.5414/CNCS111337","DOIUrl":"https://doi.org/10.5414/CNCS111337","url":null,"abstract":"<p><p>A 47-year-old woman with a 12-year history of anemia and high C-reactive protein (CRP) levels was admitted to our hospital with worsening fatigue and night sweats. She had high levels of immunoglobulin G (IgG; 4182 mg/dL), IgA (630.6 mg/dL), and CRP (7.44 mg/dL); a low hemoglobin level (8.9 g/dL); urinary protein (11.83 g/day); and urinary sediment (20 - 29 red blood cells per high power field). On the basis of the clinical findings and biopsied lymph nodes, we diagnosed multicentric Castleman's disease (MCD). Light microscopy of kidney biopsy samples revealed various nephropathies, including membranoproliferative glomerulonephritis with crescentic formation and focal segmental sclerosis and tubulointerstitial nephritis. Immunofluorescence and electron microscopy revealed IgG-positive deposits in the subepithelial areas, mesangial areas, and tubular basement membrane. The patient's clinical findings including kidney disease improved after treatment with tocilizumab. MCD is considered to be caused by abnormally high levels of interleukin (IL)-6. Tocilizumab, an IL-6 receptor antagonist, was effective in this patient, indicating that the immune complex-related kidney findings were also related to MCD.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"12 ","pages":"73-82"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11706227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142961047","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":"Treatment of emphysematous polycystic renal infection in patients with autosomal dominant polycystic kidney disease: Feasibility and limitations of percutaneous cyst drainage.","authors":"Hisashi Sugimoto, Tatsuya Suwabe, Shigekazu Kurihara, Yuki Oba, Daisuke Ikuma, Hiroki Mizuno, Akinari Sekine, Masayuki Yamanouchi, Katsuyuki Miki, Takayoshi Yokoyama, Yuki Nakamura, Yasuo Ishii, Takehiko Wada, Naoki Sawa, Yoshifumi Ubara","doi":"10.5414/CNCS111450","DOIUrl":"https://doi.org/10.5414/CNCS111450","url":null,"abstract":"<p><p>Emphysematous polycystic renal infection (EPRI) has a poor prognosis with conservative management, and early surgical nephrectomy has been recommended. However, percutaneous cyst drainage may be a possible treatment option. We experienced 6 patients with autosomal dominant polycystic kidney disease (ADPKD) presenting with EPRI. Three patients developed EPRI after renal transarterial embolization (TAE), and the other 3 developed EPRI independently of renal TAE. Two of the patients had only one cyst with gas formation, and the causative organism was sensitive to antibiotics; these patients were cured by cyst drainage and antibiotic therapy. However, in 3 patients with severe renal enlargement and gas formation in multiple cysts, the causative organism was antibiotic resistant and cyst drainage was not effective, so surgical nephrectomy was performed and the disease effectively treated. Surgical nephrectomy should be considered in patients with multiple cysts with gas formation and severe renal enlargement.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"12 ","pages":"83-89"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11706228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142961049","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":"Pediatric double-seropositive anti-glomerular basement membrane antibody disease: A case report and literature review.","authors":"Nadia Echcharii, Soukaina Essadiqi, Nabila Chekhlabi, Rajaa Tissir, Halima Hadri, Abire Allaoui, Nezha Dini","doi":"10.5414/CNCS111439","DOIUrl":"10.5414/CNCS111439","url":null,"abstract":"<p><strong>Introduction: </strong>Glomerular basement membrane (GBM) disease is a severe and exceedingly rare disorder characterized by the presence of circulating antibodies targeting the non-collagen NC1 domain of the α3 chain of collagen type IV in glomerular and alveolar basement membranes. It typically presents as rapidly progressive glomerulonephritis (RPGN), often accompanied by pulmonary hemorrhage. The occurrence of double-seropositivity for anti-GBM antibody and anti-neutrophil cytoplasmic antibody (ANCA), primarily with myeloperoxidase specificity (MPO-ANCA), is particularly uncommon in pediatric cases.</p><p><strong>Case presentation: </strong>A 9-year-old boy was admitted to the pediatric ward exhibiting macroscopic hematuria, proteinuria, and acute kidney injury, with a gradual decline in kidney function. Pulmonary function remained normal. Circulating anti-GBM antibodies and ANCA, specifically targeting myeloperoxidase (MPO), were detected. Diagnosis was confirmed via percutaneous renal biopsy, which revealed circular glomerular crescents in 9 out of 16 glomeruli. Immunofluorescence examination exhibited a linear staining pattern of the capillary wall for IgG. Treatment involved 5 boluses of methylprednisolone, followed by prolonged oral prednisone, 11 plasma exchange sessions, and initiation of rituximab due to a moderate response to therapy. Subsequently, the patient's condition significantly improved, with normalized renal function observed 24 months post treatment.</p><p><strong>Conclusion: </strong>Despite limited literature on pediatric anti-GBM and double-positive disease, it is imperative to consider these diagnoses in pediatric patients presenting with RPGN. This article offers a comprehensive summary of the main characteristics of this disease in children and emphasizes therapeutic approaches through a review of identified cases in individuals under 18 years of age.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"12 ","pages":"60-72"},"PeriodicalIF":0.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142678100","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":"Examine m.3243A>G carriers prospectively and comprehensively, treat them symptomatically, and avoid mitochondrion-toxic drugs.","authors":"Josef Finsterer","doi":"10.5414/CNCS111564","DOIUrl":"10.5414/CNCS111564","url":null,"abstract":"<p><p>None.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"12 ","pages":"58-59"},"PeriodicalIF":0.0,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142585455","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":"Diet-induced hyperoxaluria: A case based mini-review.","authors":"Aman Pal, Emmanuel Aydin-Ghormoz, Andrea Lightle, Geovani Faddoul","doi":"10.5414/CNCS111505","DOIUrl":"10.5414/CNCS111505","url":null,"abstract":"<p><strong>Introduction: </strong>Oxalate nephropathy (ON) is a rare condition involving the precipitation of calcium oxalate crystals within the nephrons. Primary hyperoxaluria involves enzymatic defects in the metabolism of glyoxylate, while secondary hyperoxaluria includes dietary and malabsorption-related etiologies.</p><p><strong>Case presentation: </strong>We discuss the case of a White male in his 80s who presented to the hospital with acute kidney injury on chronic kidney disease stage 4 in the setting of a new antibiotic prescription. Creatinine had increased to 4.2 mg/dL from a baseline of 2.2 mg/dL, with no etiology identified on urinalysis or renal ultrasound. Renal biopsy then revealed an acute tubular injury with intraluminal calcium oxalate crystals deposits, confirming a diagnosis of ON.</p><p><strong>Discussion: </strong>A detailed history revealed an excessive dietary intake of oxalate-rich foods, including nuts, and daily ingestion of 2 g of vitamin C. The patient was counselled on adjusting his diet and stopping vitamin C supplementation, which led his creatinine to return close to baseline 2 months post-discharge.</p><p><strong>Conclusion: </strong>Thorough history-taking enables early recognition and timely interventions to possibly avoid hyperoxaluria from progressing to end-stage kidney disease (ESRD).</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"12 ","pages":"52-57"},"PeriodicalIF":0.0,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402586","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}