{"title":"A case of systemic contact dermatitis associated with a peritoneal dialysis catheter and treated with dupilumab.","authors":"Kosuke Mochizuki, Jun Takeoka, Naohiro Toda, Kansei Otsuka, Ryo Sato, Satoshi Kurahashi, Kyoka Fujita, Hisako Hirashima, Akira Ishii, Toshiyuki Komiya","doi":"10.1007/s13730-025-00980-9","DOIUrl":"10.1007/s13730-025-00980-9","url":null,"abstract":"<p><p>Eosinophilia during the induction of peritoneal dialysis (PD) is frequently caused by icodextrin, but allergic reactions to PD catheters have been rarely reported. In previous reports, PD catheter-induced systemic contact dermatitis in patients undergoing PD sometimes required catheter removal, therefore there is a need to consider alternative renal replacement therapies other than PD. Here, we report a case of systemic contact dermatitis associated with a PD catheter that was successfully treated with dupilumab, avoiding catheter removal. The 62-year-old man undergoing PD had eosinophilia and pruritic skin rash after PD catheter implantation and was diagnosed with systemic contact dermatitis triggered by silicon contained in the catheter. Even though low doses of steroids were introduced, skin symptoms and eosinophilia were not controlled. After initiation of dupilumab treatment, skin pruritus was improved, and eosinophils also decreased. Although dupilumab use is expanding for systemic contact dermatitis, no previous reports of dupilumab administration in dialysis patients have been reported. This case is the first of a patient undergoing PD and using dupilumab for systemic contact dermatitis caused by a PD catheter, in which dupilumab successfully controlled skin rash and pruritus eosinophilia. Dupilumab is, therefore, a favorable option for treating systemic contact dermatitis induced by a PD catheter as an alternative to steroids and removal of the PD catheter.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"450-454"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572178","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":"Fanconi syndrome following administration of oral supplements containing red yeast rice: several months follow-up of three cases.","authors":"Reina Matsui-Hosoya, Koji Sato, Motohiro Yagasaki, Hitomi Hirose, Yusuke Fukao, Toshiki Kano, Hiroaki Io, Yusuke Suzuki","doi":"10.1007/s13730-024-00955-2","DOIUrl":"10.1007/s13730-024-00955-2","url":null,"abstract":"<p><p>To date, the treatment strategy and long-term prognosis of acute kidney injury (AKI) after taking Benikoji CholesteHelp<sup>®</sup>, a red yeast rice supplement, remains unclear. We present three cases wherein renal dysfunction improved within a few months of supplement discontinuation, without immunosuppressive therapy. Case 1: A 59-year-old woman with a history of hypertension, treated with telmisartan (serum creatinine [sCr]: 0.65 mg/dL; estimated glomerular filtration rate [eGFR]: 71.3 mL/min/1.73 m<sup>2</sup>) and Benikoji CholesteHelp<sup>®</sup> for 7 months, developed Fanconi syndrome (FS) and severe renal impairment (sCr: 2.32 mg/dL; eGFR: 17.7 mL/min/1.73 m<sup>2</sup>). Renal biopsy and gallium-67 scintigraphy revealed no active drug-induced interstitial nephritis. Her condition improved significantly after supplement discontinuation. Her renal function gradually improved, with 3-month follow-up sCr and eGFR values of 0.96 mg/dL and 46.5 mL/min/1.73 m<sup>2</sup>, respectively; however, these were still worse than the pre-onset values. Case 2: A 48-year-old man had mild renal dysfunction (sCr: 1.12 mg/dL; eGFR: 56.76 mL/min/1.73 m<sup>2</sup>) after taking Benikoji CholesteHelp<sup>®</sup> for approximately 2 years; this was reversed upon supplement discontinuation. Case 3: A 47-year-old man with FS and mild renal dysfunction (sCr: 1.09 mg/dL; eGFR: 58.5 mL/min/1.73 m<sup>2</sup>) after taking Benikoji CholesteHelp<sup>®</sup> for approximately 4 months, showed notable improvement in FS after supplement discontinuation; however, the mild renal dysfunction persisted. The primary intervention in all cases was immediate supplement discontinuation, leading to rapid improvement in renal function, without need for immunosuppressive therapy. These findings increase our understanding of renal impairment caused by red yeast rice, with improvement after withdrawal, sometimes after several months.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"468-476"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812033","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}
CEN Case ReportsPub Date : 2025-06-01Epub Date: 2024-12-31DOI: 10.1007/s13730-024-00962-3
Yi Mao, Jialu Lu, Lei Yin, Chong Liu, Jinhong Wu, Youying Mao
{"title":"The application of omalizumab in children with atopic diseases complicated by nephrotic syndrome: a case report.","authors":"Yi Mao, Jialu Lu, Lei Yin, Chong Liu, Jinhong Wu, Youying Mao","doi":"10.1007/s13730-024-00962-3","DOIUrl":"10.1007/s13730-024-00962-3","url":null,"abstract":"<p><p>Nephrotic syndrome (NS) and atopic diseases are linked through shared immunological pathways, with allergic triggers often contributing to NS relapses, particularly in immunoglobulin E (IgE)-mediated pathways. Omalizumab, a humanized monoclonal antibody targeting free and cell-bound IgE, is commonly used in treating atopic diseases. We presented a pediatric case with a history of eczema, asthma, and recurrent atopic rhinitis, who first developed NS at age three, responding well to steroid therapy. The patient experienced four NS relapses, three of which were associated with significant atopic symptoms, elevated eosinophil counts, and increased IgE levels, suggesting allergic triggers. After the latest relapse achieved remission, steroid therapy was discontinued, and Omalizumab was initiated two months later. The patient received monthly subcutaneous Omalizumab (300 mg) with regular urine protein monitoring. To date, the patient has shown marked improvement in atopic symptoms, sustained NS control, and reduced steroid dependence. This case highlights the potential of Omalizumab in treating NS triggered by allergic reactions, further prospective pilot studies and randomized controlled trials are warranted to rigorously evaluate its efficacy and safety.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"324-327"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909491","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":"Renoprotective effects of combination therapy with tolvaptan and dapagliflozin in autosomal dominant polycystic kidney disease: a four-case series.","authors":"Junji Nishida, Mayuko Yamakawa, Shoko Miura, Masashi Yasutomi","doi":"10.1007/s13730-025-00990-7","DOIUrl":"10.1007/s13730-025-00990-7","url":null,"abstract":"<p><p>Autosomal dominant polycystic kidney disease (ADPKD), the most prevalent inherited kidney disorder, progresses inexorably to end-stage kidney disease (ESKD) with the vasopressin V2-receptor antagonist tolvaptan serving as a primary treatment option since 2014. While dapagliflozin, a sodium-glucose cotransporter-2 (SGLT2) inhibitor, was approved for treating chronic kidney disease in August 2021, its renoprotective effects in ADPKD remain uncertain due to potential vasopressin stimulation. We evaluated four Japanese ADPKD patients receiving combination therapy with tolvaptan and dapagliflozin for over two years. A 74-year-old woman (Mayo Class 1D, CKD stage 4) showed improved estimated glomerular filtration rate (eGFR) decline from - 1.39 to - 0.66 mL/min/1.73 m<sup>2</sup>/year. A 62-year-old woman (Mayo Class 1B, CKD stage 3b) demonstrated eGFR decline improvement from - 1.02 to - 0.66 mL/min/1.73 m<sup>2</sup>/year. A 39-year-old man (Mayo Class 1C, CKD stage 3a) exhibited significant improvement from - 5.00 to - 1.35 mL/min/1.73 m<sup>2</sup>/year. A 45-year-old woman (Mayo Class 1D, CKD stage 3b) showed marked improvement from - 14.12 to - 0.22 mL/min/1.73 m<sup>2</sup>/year. While eGFR decline decelerated in the control group, the combination therapy group showed more pronounced improvements. Height-adjusted total kidney volume (htTKV) in the group combination therapy showed variable responses: two patients experienced volume increases (+ 4.03%, + 3.65%/year), while two showed decreases (- 0.45%, - 3.65%/year). These cases suggest potential renoprotective benefits from combining tolvaptan and dapagliflozin in ADPKD patients. Careful monitoring of renal cyst enlargement is warranted with concurrent dapagliflozin use. Further research is needed to confirm these preliminary findings and establish optimal patient selection criteria for combination therapy.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"500-506"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954235","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":"Severe hyponatremia in a mild COVID-19 patient: diagnostic challenges of SIADH and adrenal insufficiency.","authors":"Shinnosuke Takano, Hiroko Beppu, Tatsuya Fukuda, Toshie Ogawa, Tomoko Kawanishi, Hitomi Kimura, Mariko Endo, Yasutomo Abe","doi":"10.1007/s13730-025-00995-2","DOIUrl":"10.1007/s13730-025-00995-2","url":null,"abstract":"<p><p>This case report presents a 57-year-old Japanese woman with mild COVID-19 who developed severe symptomatic hyponatremia and altered consciousness, notably without pneumonia or central nervous system infection. Initial findings, including low plasma osmolality, high urine osmolality, and elevated IL-6 levels, suggested that the syndrome of inappropriate antidiuretic hormone secretion (SIADH) was the primary cause of her hyponatremia. While initial saline infusion offered temporary symptom relief, sodium levels remained unstable, leading to intermittent steroid therapy. Her improvement with steroids, alongside additional hormonal testing, raised the possibility of partial adrenal insufficiency as a complicating factor. Although secondary adrenal insufficiency in COVID-19 cases has been previously reported, its exact contribution to hyponatremia remains unclear. This case underscores the diagnostic complexities in managing hyponatremia associated with COVID-19, as SIADH is often the leading cause but may not fully explain persistent cases unresponsive to standard treatments. The report also emphasizes the importance of considering adrenal insufficiency in similar cases, particularly given COVID-19's potential impact on the hypothalamic-pituitary-adrenal axis. This case highlights the need for further research into COVID-19's effects on hormonal regulation, as such disruptions may play a key role in COVID-19-related electrolyte imbalances.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"413-420"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977056","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}
CEN Case ReportsPub Date : 2025-06-01Epub Date: 2025-02-17DOI: 10.1007/s13730-025-00967-6
Eriko Nakazawa, Toru Uchimura, Rie Ohyama, Hayato Togashi, Aya Inaba, Kentaro Shiga, Shuichi Ito
{"title":"Two adolescents with frequently relapsing nephrotic syndrome newly diagnosed after SARS-CoV-2 vaccination: case report and literature review.","authors":"Eriko Nakazawa, Toru Uchimura, Rie Ohyama, Hayato Togashi, Aya Inaba, Kentaro Shiga, Shuichi Ito","doi":"10.1007/s13730-025-00967-6","DOIUrl":"10.1007/s13730-025-00967-6","url":null,"abstract":"<p><p>Even though several cases of new-onset nephrotic syndrome following vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been reported, none have included the medium- to long-term prognosis of the patients. Here, we report the prognoses of two adolescents, aged 14 and 15 years, who developed nephrotic syndrome soon after receiving the Pfizer-BioNTech SARS-CoV-2 vaccine. Both patients were diagnosed with nephrotic syndrome after developing edema within a few days post-SARS-CoV-2 vaccination. Although they achieved rapid and complete remission with prednisolone therapy, they developed frequently relapsing nephrotic syndrome and were initiated on cyclosporine. In one patient, frequent relapses occurred while taking cyclosporine, requiring rituximab to maintain remission. Measurements of antibody titers against the spike protein of the SARS-CoV-2 vaccine taken over time revealed significantly lower titers in both patients compared with those in healthy individuals. Furthermore, each patient was infected with SARS-CoV-2 about 12 months post vaccination, with mild symptoms. Nephrotic syndrome did not recur in either patient. We also reviewed 49 published cases of patients who developed nephrotic syndrome after SARS-CoV-2 vaccination, compared to our pediatric cases, there are no cases of recurrence with the same frequency in adult cases, and it is desirable to accumulate and compare more pediatric cases in the future.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"461-467"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440029","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":"Human immunodeficiency virus-associated nephropathy mainly due to cellular variant of focal segmental glomerulosclerosis.","authors":"Hikaru Tanimizu, Naoki Sawa, Akinari Sekine, Yuki Oba, Masayuki Yamanouchi, Eiko Hasegawa, Tatsuya Suwabe, Junichi Hoshino, Keiichi Kinowaki, Kei Kono, Kenichi Ohashi, Yukiko Kanetsuna, Kazuho Honda, Kensuke Joh, Yutaka Yamaguchi, Takehiko Wada, Yoshifumi Ubara","doi":"10.1007/s13730-025-00979-2","DOIUrl":"10.1007/s13730-025-00979-2","url":null,"abstract":"<p><p>A 45-year-old man with a low titer of hepatitis B virus (HBV) was diagnosed with nephrotic syndrome. A subsequent test for human immunodeficiency virus (HIV) was positive. Kidney biopsy revealed some signs of collapsing variant of focal segmental glomerulosclerosis (FSGS), but the predominant finding was a cellular variant of FSGS. Two years after receiving tenofovir, urine protein became negative, and the patient was finally diagnosed with HIV-associated nephropathy. Collapsing variant of FSGS is considered typical of HIV-related nephropathy, but the cellular variant of FSGS in this patient represents another type. The cause of many FSGSs is often never identified, making cause-based treatment difficult. This case demonstrates that identification of the cause of FSGS can lead to treatment of FSGS.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"345-350"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646880","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":"IgA vasculitis with nephritis accompanied by pulmonary tuberculosis: a case report.","authors":"Eriko Abe, Ryu Kobayashi, Rio Matsuoka, Tomohiko Kanaoka, Shoji Yamanaka, Satoshi Fujii, Junki Koike, Takashi Oda, Hiromichi Wakui, Kouichi Tamura","doi":"10.1007/s13730-025-00966-7","DOIUrl":"10.1007/s13730-025-00966-7","url":null,"abstract":"<p><p>A 69-year-old Japanese man developed abdominal pain, purpura, proteinuria, and hematuria while receiving treatment for pulmonary tuberculosis. A skin biopsy revealed IgA-positive leukocytoclastic vasculitis, and a renal biopsy showed IgA-positive mesangial proliferative glomerulonephritis with crescent formation. Based on these findings, we diagnosed IgA vasculitis with nephritis (IgAVN) and initiated treatment. The patient's abdominal symptoms improved following factor XIII supplementation and corticosteroids. Corticosteroids were administered, and after 5 months, the proteinuria was in complete remission. Although IgAVN often follows a prior infection, it is rarely complicated by tuberculosis. In this case, staining for galactose-deficient IgA1, which is specifically positive in IgA nephropathy and IgAVN, was positive. Nephritis-associated plasmin receptor staining was also positive, suggesting some involvement of infectious glomerulonephritis. Therefore, the patient was considered to have IgAVN associated with pulmonary tuberculosis. In adult-onset cases, IgAVN is often severe. This patient was presented with adult-onset nephrosis and International Study of Kidney Disease in Children grade IIIb IgAVN, suggesting a poor prognosis. Therefore, we immediately initiated treatment with corticosteroids, factor XIII supplementation, a renin-aldosterone-system inhibitor, and a sodium-glucose cotransporter 2 inhibitor. The patient recovered uneventfully with no worsening of tuberculosis.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"421-427"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142944936","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":"Steroid-resistant nephrotic syndrome as paraneoplastic syndrome of Waldenström macroglobulinemia: a case report.","authors":"Konosuke Hirano, Sayuri Shirai, Teppei Koyama, Ryuichiro Makinouchi, Shinji Machida, Katsuomi Matsui, Shigeki Kosugi, Yasushi Ariizumi, Yukiko Kanetsuna, Junki Koike, Naohiko Imai","doi":"10.1007/s13730-025-00968-5","DOIUrl":"10.1007/s13730-025-00968-5","url":null,"abstract":"<p><p>Reports of glomerulonephritis associated with lymphoproliferative disorders are common, but reports of minimal change disease (MCD) accompanying non-Hodgkin's lymphoma are rare. Here, we present a case of a 45-year-old woman diagnosed with primary Waldenström's macroglobulinemia (WM) during MCD treatment. Her kidney biopsy revealed endothelial cell injury in parts of the MCD. Subsequently, she developed steroid-resistant nephrotic syndrome and temporary acute kidney injury, requiring dialysis. Remission of the nephrotic syndrome was achieved after initiating combination therapy with bendamustine and rituximab for WM. The renal histological findings and treatment course suggest a causal relationship between MCD and WM in this case. The pathogenesis of MCD associated with WM may involve the release of glomerular permeability factors derived from B lymphocytes. Although mild WM is often managed with observation, steroid-resistant nephrotic syndrome associated with WM should raise suspicion of a paraneoplastic syndrome, necessitating active chemotherapy targeting WM as a critical treatment approach.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"493-499"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982885","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}
CEN Case ReportsPub Date : 2025-06-01Epub Date: 2025-04-16DOI: 10.1007/s13730-025-00992-5
Ryuto Yoshida, Ryunosuke Mitsuno, Takashin Nakayama, Tatsuhiko Azegami, Akinori Hashiguchi, Takuto Torimitsu, Norifumi Yoshimoto, Akihito Hisikawa, Aika Hagiwara, Toshifumi Nakamura, Shu Meguro, Masahiro Katsumata, Jin Endo, Tatsuo Matsunaga, Jun Yoshino, Takeshi Kanda, Kohkichi Morimoto, Toshiaki Monkawa, Tadashi Yoshida, Jin Nakahara, Shintaro Yamaguchi, Kaori Hayashi
{"title":"Taurine supplementation improves physical activity level in a hemodialysis patient with mitochondrial disease: a case report.","authors":"Ryuto Yoshida, Ryunosuke Mitsuno, Takashin Nakayama, Tatsuhiko Azegami, Akinori Hashiguchi, Takuto Torimitsu, Norifumi Yoshimoto, Akihito Hisikawa, Aika Hagiwara, Toshifumi Nakamura, Shu Meguro, Masahiro Katsumata, Jin Endo, Tatsuo Matsunaga, Jun Yoshino, Takeshi Kanda, Kohkichi Morimoto, Toshiaki Monkawa, Tadashi Yoshida, Jin Nakahara, Shintaro Yamaguchi, Kaori Hayashi","doi":"10.1007/s13730-025-00992-5","DOIUrl":"10.1007/s13730-025-00992-5","url":null,"abstract":"<p><p>Mitochondrial diseases (MDs) are inherited metabolic disorders that affect multiple organ systems, including the kidneys. Variability in disease onset and phenotypic expression, combined with the absence of specific kidney pathological findings, pose significant challenges in diagnosing MD. Consequently, many undiagnosed cases of MD may exist among patients undergoing dialysis. No effective treatment for mitochondrial nephropathy has been established. We report the case of a 27-year-old female patient who presented with leg edema, nephrotic range proteinuria attributed to focal segmental glomerulosclerosis, and bilateral sensorineural hearing loss. Immunosuppressive therapy failed to achieve remission, resulting in progressive kidney function decline and eventual end-stage kidney disease. At hemodialysis initiation, worsening atypical cardiac function and hypertrophy prompted genetic testing, which identified an MT-TL1 m.3243 A > G mutation and confirmed the diagnosis of MD. After hemodialysis initiation, the patient experienced persistent fatigue and decreased physical activity levels despite dry weight management. Suspected stroke-like symptoms prompted the initiation of taurine supplementation, which significantly improved headache severity, cardiac function, and physical activity levels. This case highlights the therapeutic potential of taurine supplementation in patients with MD undergoing dialysis and the importance of maintaining clinical vigilance for MD across all stages of chronic kidney disease, even without characteristic renal pathological findings of mitochondrial nephropathy.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"366-373"},"PeriodicalIF":1.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953598","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}