CEN Case Reports最新文献_第5页

Identification of CUBN variants in triplets with a 20-year history of proteinuria. 在有 20 年蛋白尿病史的三胞胎中鉴定 CUBN 变体。

IF 1

CEN Case Reports Pub Date : 2024-08-05 DOI: 10.1007/s13730-024-00919-6

Natsumi Yamamura-Miyazaki, Nana Sakakibara, Kandai Nozu, Yuko Shima, Kenichi Satomura, Satoko Yamamoto, Minato Baba, Kaori Fujiwara, Katsusuke Yamamoto, Toshimi Michigami

{"title":"Identification of CUBN variants in triplets with a 20-year history of proteinuria.","authors":"Natsumi Yamamura-Miyazaki, Nana Sakakibara, Kandai Nozu, Yuko Shima, Kenichi Satomura, Satoko Yamamoto, Minato Baba, Kaori Fujiwara, Katsusuke Yamamoto, Toshimi Michigami","doi":"10.1007/s13730-024-00919-6","DOIUrl":"https://doi.org/10.1007/s13730-024-00919-6","url":null,"abstract":"CUBN encodes cubilin, which plays a role in the reabsorption of glomerular-filtered albumin in the proximal tubule. CUBN-related proteinuria was recently established as a new disease concept and may be present in proteinuric cases that were previously undiagnosed either genetically or histologically. We herein report a case of triplets diagnosed with chronic benign proteinuria due to CUBN variants 20 years after its onset. The proband, the first child of triplets, tested positive for urinary protein several times during the neonatal period. A urine screening test at 3 years old was positive. Proteinuria persisted for years within a non-nephrotic range. Kidney biopsy at 8 years old revealed minor glomerular abnormalities. Renin-angiotensin system inhibitors were started for albumin-based proteinuria but were ineffective. Since the two other triplets had similar courses, analyses of the NPHS1/2 and WT1 genes were performed but revealed no abnormalities. The triplets transitioned to adult care at 15 years old. CUBN-related proteinuria was reported in 2020; therefore, we re-analyzed their DNA samples and identified compound heterozygous variants in CUBN in all three triplets. The molecular diagnosis of CUBN-related proteinuria will save patients from unnecessary treatments and concerns about renal prognosis.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recurrent localized fever caused by cryoglobulinemic vasculitis following hemodialysis: A case report. 血液透析后冷球蛋白血症血管炎引起的反复局部发热：病例报告。

IF 1

CEN Case Reports Pub Date : 2024-08-05 DOI: 10.1007/s13730-024-00923-w

Mitsuharu Kojima, Maki Shibata, Saori Tomita, Reina Ueda, Rina Kasai, Eriko Yamamoto, Ayako Ban, Satoshi Suzuki, Shoichi Maruyama

{"title":"Recurrent localized fever caused by cryoglobulinemic vasculitis following hemodialysis: A case report.","authors":"Mitsuharu Kojima, Maki Shibata, Saori Tomita, Reina Ueda, Rina Kasai, Eriko Yamamoto, Ayako Ban, Satoshi Suzuki, Shoichi Maruyama","doi":"10.1007/s13730-024-00923-w","DOIUrl":"https://doi.org/10.1007/s13730-024-00923-w","url":null,"abstract":"Post-dialysis fever is commonly reported in patients undergoing hemodialysis (HD). However, it is often challenging to identify the underlying cause owing to the wide variety of potential factors that can lead to fever. In this case, a 66-year-old Japanese man experienced recurrent fever after HD treatment. Initially, antibiotics were prescribed to treat pneumonia, but it was later discovered that the pneumonia was an alveolar hemorrhage caused by cryoglobulinemic vasculitis. It is believed that cryoglobulin was sensitized by cold exposure owing to the dialysate temperature, which resulted in fever being experienced only after HD. Although treatment for vasculitis required prednisolone and rituximab, simple plasma exchange and a dialysate temperature of 37.5 °C dramatically suppressed the occurrence of post-dialysis fever. Cryoglobulinemia should be considered as a potential cause of fever, as it may be a common occurrence in patients undergoing HD and could be overlooked as a possible cause of localized fever following HD treatment.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MYH9-related disease with a normal platelet count. 与 MYH9 相关的疾病，但血小板计数正常。

IF 1

CEN Case Reports Pub Date : 2024-08-03 DOI: 10.1007/s13730-024-00922-x

Ryo Nakatani, Kenichiro Miura, Yoko Shirai, Sekiko Taneda, Tomoko Horinouchi, Kandai Nozu, Kazuho Honda, Yutaka Yamaguchi, Shinji Kunishima, Motoshi Hattori

{"title":"MYH9-related disease with a normal platelet count.","authors":"Ryo Nakatani, Kenichiro Miura, Yoko Shirai, Sekiko Taneda, Tomoko Horinouchi, Kandai Nozu, Kazuho Honda, Yutaka Yamaguchi, Shinji Kunishima, Motoshi Hattori","doi":"10.1007/s13730-024-00922-x","DOIUrl":"https://doi.org/10.1007/s13730-024-00922-x","url":null,"abstract":"MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, progressive kidney failure, and sensorineural hearing loss. We describe a patient with MYH9-RD and a normal platelet count. A 13-year-old boy with a normal platelet count presented with proteinuria and hematuria and underwent a kidney biopsy. Light microscopy showed mild mesangial matrix expansion. Electron microscopy showed thinning of the glomerular basement membrane and splitting of the lamina densa. A tentative diagnosis of Alport syndrome was made. Unexpectedly, genetic analysis revealed a de novo MYH9 gene variant (p.Gln1068_Leu1074dup). A peripheral blood smear examination showed giant platelets and leukocyte inclusion bodies, confirming a diagnosis of MYH9-RD. In summary, we described a patient with MYH9-RD without thrombocytopenia who showed glomerular basement membrane abnormalities similar to Alport syndrome. Peripheral blood smear examinations may be helpful for an appropriate diagnosis of MYH9-RD, even in patients with proteinuria and a normal platelet count.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sudden-onset hypertension leading to the diagnosis of unilateral hydronephrosis due to ureteropelvic junction obstruction. 突发性高血压导致单侧肾盂输尿管连接处梗阻肾积水的诊断。

IF 1

CEN Case Reports Pub Date : 2024-08-01 Epub Date: 2023-11-28 DOI: 10.1007/s13730-023-00832-4

Yoshihiro Nakamura, Hiroki Kobayashi, Kunimitsu Kanai, Masanori Abe

{"title":"Sudden-onset hypertension leading to the diagnosis of unilateral hydronephrosis due to ureteropelvic junction obstruction.","authors":"Yoshihiro Nakamura, Hiroki Kobayashi, Kunimitsu Kanai, Masanori Abe","doi":"10.1007/s13730-023-00832-4","DOIUrl":"10.1007/s13730-023-00832-4","url":null,"abstract":"We present a case of a 41-year-old female who developed hypertension over a three-month period and was subsequently diagnosed with ureteropelvic junction obstruction (UPJO). The patient came to our department with elevated blood pressure. Blood examinations revealed normal renal function, hypokalemia and increased renin-angiotensin system (RAS) activity, as indicated by elevated level of plasma renin activity and plasma aldosterone level. A computed tomography imaging further revealed dilation of the left renal pelvis, atrophy of the left kidney, and indications of obstruction at the junction between the renal pelvis and ureter. Surgical intervention in the form of a left pyeloplasty successfully resolved the unilateral hydronephrosis, corrected the elevated RAS activity, normalized the blood pressure, and ameliorated the hypokalemia. This case emphasizes that elevated blood pressure might be the sole clinical indication of hydronephrosis. It's crucial to consider hydronephrosis due to UPJO as a potential cause, especially when diagnosing hypertension associated with RAS hyperactivity in young adults. It also highlights the effectiveness of surgical intervention in treating hypertension in such scenarios.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11294294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138443990","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

Effects of switching from agalsidase-α to agalsidase-β on biomarkers, renal and cardiac parameters, and disease severity in fabry disease forming neutralizing antidrug antibodies: a case report. 从阿加西酶-α到阿加西酶-β对形成中和抗药抗体的法布里病患者的生物标志物、肾脏和心脏参数以及疾病严重程度的影响：病例报告。

IF 1

CEN Case Reports Pub Date : 2024-08-01 Epub Date: 2023-12-22 DOI: 10.1007/s13730-023-00843-1

Hisato Shima, Takahiro Tsukimura, Tomoko Shiga, Tadayasu Togawa, Hitoshi Sakuraba, Toshio Doi, Yuka Ikeda, Takuya Okamoto, Yukari Yoshikawa, Takehiko Kimura, Takashi Iwase, Tomoko Inoue, Manabu Tashiro, Kazuyoshi Okada, Jun Minakuchi

{"title":"Effects of switching from agalsidase-α to agalsidase-β on biomarkers, renal and cardiac parameters, and disease severity in fabry disease forming neutralizing antidrug antibodies: a case report.","authors":"Hisato Shima, Takahiro Tsukimura, Tomoko Shiga, Tadayasu Togawa, Hitoshi Sakuraba, Toshio Doi, Yuka Ikeda, Takuya Okamoto, Yukari Yoshikawa, Takehiko Kimura, Takashi Iwase, Tomoko Inoue, Manabu Tashiro, Kazuyoshi Okada, Jun Minakuchi","doi":"10.1007/s13730-023-00843-1","DOIUrl":"10.1007/s13730-023-00843-1","url":null,"abstract":"Fabry disease is an X-linked hereditary disorder caused by deficient α-galactosidase A (GLA) activity. Patients with Fabry disease are often treated with enzyme replacement therapy (ERT). However, ERT often induces the formation of neutralizing antidrug antibodies (ADAs), which may impair the therapeutic efficacy. Here, we report the case of a 32-year-old man with Fabry disease and resultant neutralizing ADAs who was treated by switching from agalsidase-α to agalsidase-β. We monitored biomarkers, such as plasma globotriaosylsphingosine (lyso-Gb3), urinary globotriaosylceramide (Gb3), urinary mulberry bodies, renal and cardiac parameters, and disease severity during the treatment period. Although plasma lyso-Gb3 and urinary Gb3 levels quickly decreased within two months after the initiation of ERT with agalsidase-α, they gradually increased thereafter. The urinary mulberry bodies continued to appear. Both the ADA titer and serum mediated GLA inhibition rates started to increase after two months. Moreover, 3.5 years after ERT, the vacuolated podocyte area in the renal biopsy decreased slightly from 23.1 to 18.9%. However, plasma lyso-Gb3 levels increased, and urinary Gb3, mulberry body levels, and ADA titers remained high. Therefore, we switched to agalsidase-β which reduced, but did not normalize, plasma lyso-Gb3 levels and stabilized renal and cardiac parameters. Disease severity was attenuated. However, urinary Gb3 and mulberry body levels did not decrease noticeably in the presence of high ADA titers. The kidneys take up a small amount of the administered recombinant enzyme, and the clearance of Gb3 that has accumulated in the kidney may be limited despite the switching from agalsidase-α to agalsidase-β.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11294308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138884548","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

Active flare of IgA nephropathy during long-term therapy with anti-tumor necrosis factor-α antibody drugs for Crohn's disease: three case reports and literature review. 抗肿瘤坏死因子-α抗体药物长期治疗克罗恩病期间IgA肾病活动性发作:3例报告并文献复习

IF 1

CEN Case Reports Pub Date : 2024-08-01 Epub Date: 2023-11-30 DOI: 10.1007/s13730-023-00836-0

Akihiro Shimizu, Nobuo Tsuboi, Kotaro Haruhara, Izumi Shirai, Kyohei Ogawa, Akane Miura, Kentaro Oshiro, Hiroyuki Ueda, Shinya Yokote, Masahiro Okabe, Takaya Sasaki, Masato Ikeda, Takashi Yokoo

{"title":"Active flare of IgA nephropathy during long-term therapy with anti-tumor necrosis factor-α antibody drugs for Crohn's disease: three case reports and literature review.","authors":"Akihiro Shimizu, Nobuo Tsuboi, Kotaro Haruhara, Izumi Shirai, Kyohei Ogawa, Akane Miura, Kentaro Oshiro, Hiroyuki Ueda, Shinya Yokote, Masahiro Okabe, Takaya Sasaki, Masato Ikeda, Takashi Yokoo","doi":"10.1007/s13730-023-00836-0","DOIUrl":"10.1007/s13730-023-00836-0","url":null,"abstract":"In recent years, increasing numbers of reports have described new onset or active disease flare of IgA nephropathy (IgAN) during administration of TNF-α inhibitor (TNFi) therapy for chronic inflammatory diseases. Crohn's disease (CD) is the most common indication for TNFi therapy in this clinical setting, but the underlying etiology of IgAN in such patients remains unclear. We report our experience with three patients who developed acute worsening of preexisting urinalysis abnormalities and kidney dysfunction approximately 2 to 6 years after TNFi administration for CD. Kidney biopsies at the time of kidney disease flare revealed IgAN in two patients and IgAN complicated by acute tubulointerstitial nephritis in one patient. The CD and IgAN in all three patients were successfully managed with additional corticosteroid therapy and tonsillectomy without discontinuing TNFi therapy. The clinical course of our patients and similar patients described in the literature suggests that TNFi therapy for CD is associated with a relatively high risk for new onset or disease flare of IgAN. This report discusses the possible involvement of Th1/Th2 imbalance on the immunological background of CD or IgAN.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11294508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138458176","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

An unusual cause of renal vein thrombosis in a newborn: COVID-19. 新生儿肾静脉血栓形成的不寻常原因：COVID-19。

IF 1

CEN Case Reports Pub Date : 2024-08-01 Epub Date: 2024-01-08 DOI: 10.1007/s13730-023-00846-y

Nihan Öztürk, Zühre Kaya, Öznur Boyunağa, Oğuz Söylemezoğlu

引用次数: 0

Concurrent glomerular PCDH7 deposits in PLA2R-associated membranous nephropathy. PLA2R相关膜性肾病中并发的肾小球PCDH7沉积。

IF 1

CEN Case Reports Pub Date : 2024-08-01 Epub Date: 2023-12-25 DOI: 10.1007/s13730-023-00842-2

NaNa Fu, Shuang Yuan, Guang Yang, Hang Li, Tao Wang

引用次数: 0

Early transition to avacopan from glucocorticoids applied during induction therapy for microscopic polyangiitis with rapidly progressive glomerulonephritis. 在显微镜下多血管炎伴快速进展性肾小球肾炎的诱导治疗中，从应用糖皮质激素早期过渡到阿伐潘。

IF 1

CEN Case Reports Pub Date : 2024-08-01 Epub Date: 2023-12-13 DOI: 10.1007/s13730-023-00841-3

Hiromasa Miyake, Katsuyuki Tanabe, Shuhei Yamaji, Takashi Kihara

{"title":"Early transition to avacopan from glucocorticoids applied during induction therapy for microscopic polyangiitis with rapidly progressive glomerulonephritis.","authors":"Hiromasa Miyake, Katsuyuki Tanabe, Shuhei Yamaji, Takashi Kihara","doi":"10.1007/s13730-023-00841-3","DOIUrl":"10.1007/s13730-023-00841-3","url":null,"abstract":"Antineutrophil cytoplasmic antibody-associated vasculitis (AAV) is a systemic autoimmune disease characterized by necrotizing inflammation of small blood vessels. Glucocorticoids (GC) in combination with rituximab or cyclophosphamide can reduce AAV-related mortality and rescue renal function. However, several side effects associated with these agents, including GC toxicity, are concerning. Avacopan, an inhibitor of the C5a receptor, is now available for AAV treatment and is expected to mitigate GC toxicity. We present a case of myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA)-positive microscopic polyangiitis (MPA) with rapidly progressive glomerulonephritis treated with an early switch from GC to avacopan in combination with rituximab during induction therapy. Over a 6-month treatment period, clinical remission was achieved and maintained without infection or elevated liver enzyme levels. Efficacy and safety data regarding avacopan for AAV induction therapy remain limited. Therefore, more case reports are required to clarify the role of avacopan in AAV induction and maintenance therapy. Since the MPO-ANCA titer remained elevated despite the clinical remission of AAV in this case, the ANCA titer may not necessarily be a reliable biomarker for predicting AAV relapse when avacopan is applied as an induction therapy for AAV.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11294286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138794595","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

Correction to: Functional changes in the heart after sacubitril/valsartan use in 5 hemodialysis patients with hypertension. Case report. 更正：5例血液透析高血压患者使用沙库比妥/缬沙坦后心脏功能的变化。病例报告。

IF 1

CEN Case Reports Pub Date : 2024-08-01 DOI: 10.1007/s13730-023-00844-0

Noriko Kuwae

引用次数: 0