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Chronic kidney disease associated with extremely premature birth and extremely low birth weight may progress through the burden of growth. 与极早产和极低出生体重有关的慢性肾病可能会在生长过程中逐渐加重。
IF 0.7
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-10-05 DOI: 10.1007/s13730-024-00931-w
Chinatsu Onodera, Ken Ishikawa, Hiroshi Sugawara, Saeko Nishimi, Hiromi Furukawa, Akira Takada, Manami Akasaka, Megumi Kobayashi
{"title":"Chronic kidney disease associated with extremely premature birth and extremely low birth weight may progress through the burden of growth.","authors":"Chinatsu Onodera, Ken Ishikawa, Hiroshi Sugawara, Saeko Nishimi, Hiromi Furukawa, Akira Takada, Manami Akasaka, Megumi Kobayashi","doi":"10.1007/s13730-024-00931-w","DOIUrl":"10.1007/s13730-024-00931-w","url":null,"abstract":"<p><p>Chronic kidney disease associated with low birth weight and/or premature birth (L/P-CKD) in infants may result from a decreased number of nephrons at birth. These infants may develop acute kidney injury due to exposure to nephrotoxic substances or other events during nephrogenesis in early infancy. Nonetheless, L/P-CKD progression remains unclear. We present three cases of L/P-CKD diagnosed after neonatal intensive care unit (NICU) discharge. Three patients were born extremely prematurely (gestational age, 24-26 weeks) with extremely low birth weight (606-906 g). They were admitted to the NICU (117-311 days) anad received several nephrotoxic medications during the early postnatal period. They showed elevated serum creatinine levels at 4 weeks after birth, which decreased to normal levels at NICU discharge. Proteinuria was first detected during adolescence (10-15 years) on annual school urine screening, with a remarkable increase in their height (18 - 50.8 cm), without known episodes of urinary tract infection, dehydration, lifestyle-related issues, such as excessive salt/protein intake, and extreme lack of exercise that might have caused kidney damage. Their kidneys were smaller than normal on renal ultrasonography. Open renal biopsy findings indicated glomerulomegaly and perihilar glomerulosclerosis in two of the three patients, suggesting glomerular hypertension. The remarkable differences between the body height before CKD and the timing of diagnosis of CKD could contribute to the progress of CKD. Long-term follow-up of low birth weight and extremely premature infants, from NICU discharge until adulthood, should be established.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"224-229"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379133","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
Acute tubulointerstitial nephritis following coronavirus disease 2019 mRNA vaccination: a pediatric case report. 接种冠状病毒 2019 mRNA 疫苗后出现急性肾小管间质性肾炎:一例儿科病例报告。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-10-31 DOI: 10.1007/s13730-024-00945-4
Gakushi Eguchi, Miki Murakoshi, Futaba Miyaoka, Asami Shimbo, Hitoshi Irabu, Toru Kanamori, Tomohiro Udagawa, Tomohiro Morio, Masaki Shimizu
{"title":"Acute tubulointerstitial nephritis following coronavirus disease 2019 mRNA vaccination: a pediatric case report.","authors":"Gakushi Eguchi, Miki Murakoshi, Futaba Miyaoka, Asami Shimbo, Hitoshi Irabu, Toru Kanamori, Tomohiro Udagawa, Tomohiro Morio, Masaki Shimizu","doi":"10.1007/s13730-024-00945-4","DOIUrl":"10.1007/s13730-024-00945-4","url":null,"abstract":"<p><p>Coronavirus disease 2019 (COVID-19) mRNA vaccines have been linked to various kidney adverse events including acute tubulointerstitial nephritis (ATIN). This report describes a 15-year-old female who developed persistent fever and fatigue 54 days after receiving her second dose of the BNT162b2 2 SARS-CoV-2 vaccine. She presented with elevated serum creatinine and urinary β2-microglobulin (β2MG) levels. Kidney biopsy revealed mononuclear infiltrate with some eosinophils, confirming the diagnosis of ATIN. Repeatedly positive lymphocyte transformation test results for the vaccine suggested a relationship between the vaccine and interstitial nephritis. Initially, treatment with prednisolone was effective. However, an increase in urinary β2MG level was observed 7 months later, and the introduction of mycophenolate mofetil (MMF) allowed for the gradual reduction and eventual cessation of prednisolone. This case represents one of the rare pediatric instances of ATIN following COVID-19 vaccination. MMF can be an effective alternative in corticosteroid-dependent cases.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"261-265"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557264","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
Clinical manifestations and renal pathology of ethylene glycol. 乙二醇的临床表现和肾脏病理学。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-08-12 DOI: 10.1007/s13730-024-00921-y
Shogo Taira, Shiori Tamayose, Tasuku Kikumura, Morikuni Nishihira
{"title":"Clinical manifestations and renal pathology of ethylene glycol.","authors":"Shogo Taira, Shiori Tamayose, Tasuku Kikumura, Morikuni Nishihira","doi":"10.1007/s13730-024-00921-y","DOIUrl":"10.1007/s13730-024-00921-y","url":null,"abstract":"<p><p>Ethylene glycol (EG) poisoning is a critical medical emergency often associated with suicide attempts in adults. EG is metabolized by alcohol dehydrogenase, leading to the formation of toxic metabolites that cause metabolic acidosis, renal failure, hypocalcemia, aciduria, and disorders of the central nervous and cardiovascular systems. Calcium oxalate, a metabolite of EG, contributes to acute tubular necrosis. Despite limited reports on human renal pathology, we present a case detailing renal pathology following EG ingestion. A 44-year-old male, admitted due to loss of consciousness, had ingested a lethal dose of EG. Blood tests indicated metabolic acidosis, while urinary examination revealed calcium oxalate crystals. Continuous renal replacement therapy corrected the acidosis; however, nephrogenic diabetes insipidus subsequently developed. A renal biopsy on day 31 revealed calcium oxalate crystal deposition and tubulointerstitial damage. Notably, various stages of crystal deposition, adherence, and degradation were observed. This case underscores the importance of considering EG poisoning in cases of unexplained metabolic acidosis and renal dysfunction, with renal biopsy serving as a valuable diagnostic tool. Understanding the renal effects of EG is essential for timely intervention and effective management of poisoning cases.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"157-161"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970697","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
Macroscopic hematuria-associated severe acute kidney injury triggered by kidney stone formation in a patient with thin basement membrane and no history of microscopic hematuria. 一名基底膜较薄且无镜下血尿病史的患者因肾结石形成引发的镜下血尿相关性重度急性肾损伤。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-10-17 DOI: 10.1007/s13730-024-00942-7
Shuzo Kaneko, Ririko Murata, Ainori Hoshimoto, Rina Hisada, Makiko Harano, Emi Anno, So Hagiwara, Eri Imai, Michio Nagata
{"title":"Macroscopic hematuria-associated severe acute kidney injury triggered by kidney stone formation in a patient with thin basement membrane and no history of microscopic hematuria.","authors":"Shuzo Kaneko, Ririko Murata, Ainori Hoshimoto, Rina Hisada, Makiko Harano, Emi Anno, So Hagiwara, Eri Imai, Michio Nagata","doi":"10.1007/s13730-024-00942-7","DOIUrl":"10.1007/s13730-024-00942-7","url":null,"abstract":"<p><p>Macroscopic hematuria (MH)-associated acute kidney injury (AKI) is a rare condition that causes acute tubular damage due to severe glomerular bleeding with MH. A 66-year-old Japanese woman with no significant past medical history was referred for severe kidney injury with oliguric MH. Her prior medical checkup results showed no occult blood in her urine. Seven days earlier, she had experienced transient severe acute right lumbar back pain. On admission, her serum urea nitrogen was 147 mg/dL, serum creatinine (sCr) 18.3 mg/dL, urinary red blood cells (RBCs) > 100/hpf, urinary protein 28.8 g/gCr, with no hydronephrosis in either kidney, but two stones were found in the right kidney and right ureteropelvic junction. At the start of her hemodialysis, the patient was treated with high-dose steroids because of suspected rapidly progressive glomerulonephritis. A renal biopsy of the left kidney showed acute tubular injury with massive RBC casts filling the tubular lumen. Glomerulitis was not detected, but electron microscopy revealed diffuse glomerular thin basement membrane (TBM). Despite immediate steroid discontinuation, the patient's renal function and MH improved, and she was weaned from hemodialysis. The stones resolved 2 months after onset, but microscopic hematuria persisted for 7 months post-onset. The sCr level was fixed at 1.1 mg/dL 20 months post-onset. This is the first report of MH-AKI in a TBM without the risk of MH-AKI development, such as bleeding tendency or iron overload. In this TBM, a colic attack of the renal urinary tract induced glomerular bleeding, and intolerance to hematuria may have caused severe tubular damage.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"246-252"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142459021","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 acute kidney injury with Fanconi syndrome related to red yeast rice supplement. 急性肾损伤并发范可尼综合征的复发性与红麴补充剂有关。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-08-24 DOI: 10.1007/s13730-024-00926-7
Yuri Katayama, Reina Miyazaki, Yasuhito Takahashi, Tetsuya Kawamura, Nobuo Tsuboi, Takashi Yokoo
{"title":"Recurrent acute kidney injury with Fanconi syndrome related to red yeast rice supplement.","authors":"Yuri Katayama, Reina Miyazaki, Yasuhito Takahashi, Tetsuya Kawamura, Nobuo Tsuboi, Takashi Yokoo","doi":"10.1007/s13730-024-00926-7","DOIUrl":"10.1007/s13730-024-00926-7","url":null,"abstract":"<p><p>A 51-year-old woman was admitted to our hospital for acute kidney injury (AKI) with an elevated serum creatinine level of 5.07 mg/dL and Fanconi syndrome. The patient was discharged after partial recovery of kidney dysfunction with conservative treatment but was readmitted approximately three months later due to a recurrence of AKI with Fanconi syndrome. A kidney biopsy revealed findings consistent with acute tubular necrosis and localized tubulointerstitial nephritis, with no specific vascular or glomerular lesions. The patient's medical history revealed that prior to both AKI episodes, the patient had been taking \"Red Yeast Cholestehelp\", a lipid-lowering supplement for a period of time. Her kidney dysfunction and Fanconi syndrome improved with the discontinuation of the supplement and correction with oral medications. In Japan, a series of similar health hazards related to the red yeast rice supplement has been reported, but the causative toxin and its causal relationship with AKI have not been established. The present case provides firm evidence that clinically supports this relationship.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"178-182"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046422","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
Effective management of necrotizing crescentic glomerulonephritis using an aggressive combination therapy including avacopan in a patient double-seropositive for anti-GBM antibodies and ANCA: a case report. 病例报告:对一名抗 GBM 抗体和 ANCA 双血清阳性患者采用包括阿伐戈班在内的积极综合疗法有效治疗坏死性新月体肾小球肾炎。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-09-10 DOI: 10.1007/s13730-024-00929-4
Rina Tanaka, Takumi Toishi, Reiji Masaki, Hideaki Aihara, Sumie Sakamoto, Mari Ikeda, Tomohiko Inoue, Atsuro Kawaji, Masatoshi Matsunami, Junko Fukuda, Mamiko Ohara, Hiroshi Kuji, Daisuke Ichikawa, Tomo Suzuki
{"title":"Effective management of necrotizing crescentic glomerulonephritis using an aggressive combination therapy including avacopan in a patient double-seropositive for anti-GBM antibodies and ANCA: a case report.","authors":"Rina Tanaka, Takumi Toishi, Reiji Masaki, Hideaki Aihara, Sumie Sakamoto, Mari Ikeda, Tomohiko Inoue, Atsuro Kawaji, Masatoshi Matsunami, Junko Fukuda, Mamiko Ohara, Hiroshi Kuji, Daisuke Ichikawa, Tomo Suzuki","doi":"10.1007/s13730-024-00929-4","DOIUrl":"10.1007/s13730-024-00929-4","url":null,"abstract":"<p><p>The prognosis of anti-glomerular basement membrane (anti-GBM) nephritis, often accompanied by the presence of antineutrophil cytoplasmic antibodies (ANCA), is poor, and even with aggressive therapeutic approaches, kidney replacement therapy (KRT) is typically required. Here, we present a case of necrotizing crescentic glomerulonephritis in a patient double-seropositive for anti-GBM antibodies and ANCA who successfully achieved dialysis independence following aggressive treatment, including avacopan. The patient was a 77-year-old woman with rapidly progressive glomerulonephritis and double seropositivity for myeloperoxidase-ANCA and anti-GBM antibodies. A kidney biopsy revealed diffuse cellular crescents with necrosis and immunoglobin (Ig)G1 and IgG3 positivity on immunofluorescence staining, leading to a histological diagnosis of anti-glomerular basement membrane nephritis. Our treatment approach involved a novel combination of glucocorticoids, rituximab, low-dose cyclophosphamide, and plasma exchange complemented by avacopan. Temporary hemodialysis was required, and the patient successfully discontinued dialysis after 12 sessions despite a poor histological prognosis. This case underscores the significance of considering aggressive therapeutic strategies, including avacopan, for severe anti-GBM nephritis, even in the absence of lung involvement, to avert the need for KRT.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"183-187"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142280879","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 ANCA-negative pauci-immune crescentic glomerulonephritis with lung adenocarcinoma with mediastinal involvement successfully treated by corticosteroid and radiation therapy. 一例 ANCA 阴性、伴有肺腺癌且纵隔受累的新月体肾小球肾炎病例,通过皮质类固醇和放射治疗获得成功。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-08-20 DOI: 10.1007/s13730-024-00925-8
Yuna Onozawa, Masahiro Koizumi, Yosuke Nakagawa, Go Ogura, Masayuki Oki, Takehiko Wada, Masafumi Fukagawa
{"title":"A case of ANCA-negative pauci-immune crescentic glomerulonephritis with lung adenocarcinoma with mediastinal involvement successfully treated by corticosteroid and radiation therapy.","authors":"Yuna Onozawa, Masahiro Koizumi, Yosuke Nakagawa, Go Ogura, Masayuki Oki, Takehiko Wada, Masafumi Fukagawa","doi":"10.1007/s13730-024-00925-8","DOIUrl":"10.1007/s13730-024-00925-8","url":null,"abstract":"<p><p>Pauci-immune crescentic glomerulonephritis (PICGN) is one of the pathologies causing rapidly progressive glomerulonephritis, often associated with anti-neutrophil cytoplasmic antibody (ANCA); however, in 10-30% of cases, ANCAs are negative. While a relatively large number of cases of ANCA-positive PICGN complicated with malignancy have been previously reported, the number of cases of ANCA-negative PICGN with malignancy is limited. The prognosis for such cases was poor, and many patients died within a relatively short period. Here, we report the case of ANCA-negative PICGN complicated with malignancy successfully treated by corticosteroid and radiation therapy. A 63-year-old Japanese man was admitted to our hospital due to spiking fevers in the previous 3 months. Based on the findings of imaging and pathological tests, he was diagnosed with locally advanced lung adenocarcinoma with mediastinal involvement. After admission, his renal function rapidly deteriorated, and urinalysis showed heavy proteinuria. In serological tests, serology for autoantibodies, including ANCAs, was negative. The kidney biopsy revealed PICGN with prominent endocapillary proliferation. We administered corticosteroid therapy for glomerulonephritis and subsequent radiation therapy for lung carcinoma, both of which were effective. He has been alive without progression of malignancy or kidney disease for 5 years after discharge. In patients with malignancy presenting with acute deterioration of kidney function, although infrequent, one of the conceivable pathological conditions to consider is ANCA-negative PICGN associated with malignancy. In such cases, even with negative antibodies such as ANCA, pathological examination is warranted, and a combination of anti-tumor therapy and immunosuppressive therapy is expected to be effective.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"171-177"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142003721","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
Lipoprotein glomerulopathy with a novel apolipoprotein E variant, APOE Kanto (Asp 151dup). 新型载脂蛋白 E 变异体 APOE Kanto(Asp 151dup)引起的脂蛋白肾小球病。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-08-14 DOI: 10.1007/s13730-024-00920-z
Akio Yokochi, Akira Matsunaga, Keiko Kanemoto, Naoto Tominaga, Susumu Uda, Takao Saito
{"title":"Lipoprotein glomerulopathy with a novel apolipoprotein E variant, APOE Kanto (Asp 151dup).","authors":"Akio Yokochi, Akira Matsunaga, Keiko Kanemoto, Naoto Tominaga, Susumu Uda, Takao Saito","doi":"10.1007/s13730-024-00920-z","DOIUrl":"10.1007/s13730-024-00920-z","url":null,"abstract":"<p><p>A 33-year-old Japanese man was admitted for possible kidney disease because of massive proteinuria. Laboratory findings were characterized by marked urinary protein of 4.7 g/day and high-serum triglyceride levels of 266 mg/dL. Renal biopsy revealed segmental proliferation in the mesangium and lipoprotein thrombi in the glomerular capillary. These results suggested that the diagnosis was lipoprotein glomerulopathy (LPG), although serum apolipoprotein E (apo E) levels were within normal ranges. The APOE phenotype was identified as E2/3 by isoelectric focusing polyacrylamide gel electrophoresis. Direct DNA sequencing analyses for apo E identified a duplication of amino acid 151, aspartic acid, and the gene mutation was named APOE Kanto. APOE gene mutations due to amino acid duplication are rare, and this is the first report showing that amino acid duplication among apo E gene mutations is involved in LPG. It is also noteworthy that the patient developed end-stage kidney disease after over than 10 years despite fibrate treatment.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"162-166"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975155","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
Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1. 一例范可尼综合征合并血糖正常的 MODY1 患者存在线粒体功能障碍。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-11-11 DOI: 10.1007/s13730-024-00948-1
Yuko Fujii, Hideki Matsumura, Kei Murayama, Yasushi Okazaki, Akira Ashida
{"title":"Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1.","authors":"Yuko Fujii, Hideki Matsumura, Kei Murayama, Yasushi Okazaki, Akira Ashida","doi":"10.1007/s13730-024-00948-1","DOIUrl":"10.1007/s13730-024-00948-1","url":null,"abstract":"<p><p>Maturity-onset diabetes of the young 1 (MODY1) is characterized by macrosomia and transient hypoglycemia in neonates, in addition to diabetes mellitus (DM). Only patients with MODY1 harboring a pathogenic variant (c.187C > T; p.R63W) in HNF4A are sure to develop Fanconi syndrome (FS). Here we report the successful diagnosis of MODY1 in a patient harboring p.R63W before confirmation of DM-related hyperglycemia after being alerted to the presence of abnormal mitochondria in a kidney-biopsy specimen revealed by electron microscopy. The patient was born at 39 weeks of gestation with macrosomia, elevated levels of liver enzymes, and transient hypoglycemia. At three years of age, proteinuria was found by chance, and further laboratory investigations revealed metabolic acidosis, mild renal dysfunction, hypouricemia, proteinuria, aminoaciduria, and glycosuria. On this basis, we diagnosed the patient as having FS and performed percutaneous renal biopsy. Light microscopy revealed no evidence of proximal tubule disorder, but electron microscopy demonstrated mitochondria with disordered cristae in glomerular podocytes and giant mitochondria in proximal tubules. Mitochondrial nephropathy was suspected, and skin fibroblasts from the patient grown on galactose medium showed decreased oxygen consumption suggestive of mitochondrial dysfunction. Therefore, genetic testing was performed and a pathogenic variant (c.187C > T; p.R63W) in HNF4A was detected. Mitochondrial dysfunction in a Drosophila and murine model of patients with both MODY1 and FS has already been reported, and we detected it in this human MODY1/FS patient on the basis of functional tests and imaging. We believe mitochondrial dysfunction may be involved in the pathogenesis of MODY1/FS.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"291-296"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142615447","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
Efficacy of sutimlimab for cold agglutinin disease in a patient on chronic hemodialysis. 苏替米单抗治疗慢性血液透析患者冷凝集素病的疗效。
IF 1
CEN Case Reports Pub Date : 2025-04-01 Epub Date: 2024-07-17 DOI: 10.1007/s13730-024-00917-8
Yuhei Fujisawa, Shigeto Horita, Keiko Wakabayashi
{"title":"Efficacy of sutimlimab for cold agglutinin disease in a patient on chronic hemodialysis.","authors":"Yuhei Fujisawa, Shigeto Horita, Keiko Wakabayashi","doi":"10.1007/s13730-024-00917-8","DOIUrl":"10.1007/s13730-024-00917-8","url":null,"abstract":"<p><p>Reports of cold agglutinin disease (CAD), an autoimmune hemolytic anemia, in dialysis patients are limited. Recently, sutimlimab for CAD was covered by insurance. Herein, we report a case in which sutimlimab was effective in the treatment of CAD in a patient undergoing hemodialysis (HD). The patient was a 73 year-old Japanese man with an 11 year history of HD for diabetic nephropathy. He was admitted to our hospital for examination and treatment of erythropoiesis-stimulating agent (ESA)-induced hyporesponsive anemia and fatigue, which was present in the previous year October to March when temperatures were cooler. The patient was diagnosed with hemolytic anemia based on decreased hemoglobin levels, elevated reticulocyte count, elevated lactate dehydrogenase levels, and decreased haptoglobin levels. Furthermore, he was diagnosed with CAD based on a positive direct antiglobulin test for C3 and cold agglutinin tests. The patient did not respond well to an elevated dialysate temperature or rituximab therapy. After initiating sutimlimab treatment, an increase in the hemoglobin level was observed despite a decrease in temperature, and his fatigue disappeared. Anemia in hemodialysis patients is generally renal; however, some ESA resistance exists, which may be due to hemolytic anemia. In this case, the use of sutimlimab was effective in controlling hemolytic anemia due to CAD.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"119-123"},"PeriodicalIF":1.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626178","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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