{"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":null,"pages":null},"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}
Aman Pal, Emmanuel Aydin-Ghormoz, Andrea Lightle, Geovani Faddoul
{"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":null,"pages":null},"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}
Nazia Habib, Chase Yuan, Andrea Lightle, Mauricio Monrroy, Swati Mehta
{"title":"A rare case of alirocumab (PCSK9 inhibitor)-associated acute interstitial nephritis.","authors":"Nazia Habib, Chase Yuan, Andrea Lightle, Mauricio Monrroy, Swati Mehta","doi":"10.5414/CNCS111443","DOIUrl":"https://doi.org/10.5414/CNCS111443","url":null,"abstract":"<p><p>Acute interstitial nephritis (AIN) is a common cause of hospital-acquired acute kidney injury (AKI) [1]. The most common cause of AIN is drug-induced AIN, which accounts for 60 - 70% of cases [2]. Alirocumab, a proprotein convertase subtilisin/kexin type 9 inhibitor (PCSK9 inhibitor) is a monoclonal antibody that lowers low-density lipoprotein-C levels by inhibiting the PCSK9 protein [3]. Common adverse events reported with alirocumab include injection-site reactions, myalgia, neurocognitive disorders, and ophthalmologic disorders [4]. There is paucity of data, with few reported cases of AKI, mostly in the form of acute tubular necrosis (ATN) associated with alirocumab [5]. In this article, we present a novel case of AIN associated with the use of alirocumab.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11407299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305677","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":"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":"<p><p>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.</p>","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}
{"title":"A case of acquired thrombotic thrombocytopenic purpura following near-drowning.","authors":"Natnicha Leelaviwat, Shanti Parkash, Sharma Prabhakar","doi":"10.5414/CNCS111301","DOIUrl":"10.5414/CNCS111301","url":null,"abstract":"<p><p>A 19-year-old woman with a history of asthma presented with acute confusion following a near-drowning event 2 weeks prior to admission. She was found to have severe thrombocytopenia and microangiopathic hemolytic anemia (MAHA). The treatment for thrombotic thrombocytopenic purpura (TTP) was started on the day of admission due to high clinical suspicion. Subsequent workup confirmed a diagnosis of TTP with no clear etiology except the near-drowning incident. TTP following a near-drowning event has never been reported in the literature. Furthermore, she developed refractory TTP that required reinitiation of therapeutic plasma exchange and rituximab. After discharge, the patient had been doing well over a year of follow-up without remission.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140878379","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}
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":"<p><p>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 <i>Influenza A</i> by polymerase chain reaction (PCR). The patient was treated with oseltamivir and intravenous fluids in addition to fresh frozen plasma (FFP). Enteropathogenic <i>Escherichia coli</i> (EPEC) was detected in a stool sample by PCR. Serum antibodies for <i>Mycoplasma pneumoniae</i> (IgM and IgG) and <i>Helicobacter pylori</i> (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, <i>Mycoplasma pneumoniae</i>, and <i>Helicobacter pylori</i> 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.</p>","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}
{"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":"<p><p>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.</p>","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}
{"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":"<p><p>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.</p>","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}
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":"<p><p>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.</p>","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}
Julie Bech Jensen, Eva Gravesen, Sidse Graff Jensen, Iain Bressendorff
{"title":"A case report of atypical anti-glomerular basement membrane nephritis associated with Mycobacterium Avium.","authors":"Julie Bech Jensen, Eva Gravesen, Sidse Graff Jensen, Iain Bressendorff","doi":"10.5414/CNCS111254","DOIUrl":"10.5414/CNCS111254","url":null,"abstract":"<p><p>We present the case of a woman with atypical anti-glomerular basement membrane (anti-GBM) nephritis associated with concurrent pulmonary infection with <i>Mycobacterium avium</i>. A kidney biopsy showed crescentic glomerulonephritis with 50% active crescents and linear IgG staining, but no circulating anti-GBM antibodies were detected, and the patient did not have pulmonary hemorrhage. Despite treatment with a triple-regimen of antibiotics, corticosteroids, and plasmapheresis, the patient did not regain kidney function. One year later she is on maintenance dialysis and has still not cleared the infection with <i>M. avium</i>.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10795487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139492399","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}