CEN Case Reports最新文献

{"title":"A case of posterior and reversible encephalopathy syndrome in a patient previously undiagnosed with lupus nephritis.","authors":"Yoichi Kadoh, Jun Yoshino, Tomohiro Oka, Kenichi Itoga, Maki Hanada, Daisuke Niino, Atsushi Nagai, Kunihiro Ichinose, Takeshi Kanda","doi":"10.1007/s13730-025-00973-8","DOIUrl":"https://doi.org/10.1007/s13730-025-00973-8","url":null,"abstract":"<p><p>Posterior reversible encephalopathy syndrome (PRES) is a rare clinico-neuroradiologic disease associated with various conditions, such as hypertension, eclampsia, chronic kidney disease, and autoimmune diseases. Here, we present the case of the unusual occurrence of PRES with hypertensive emergency and renal insufficiency in a 37-year-old woman previously undiagnosed with systemic lupus erythematosus (SLE) and lupus nephritis. The patient was emergently admitted to our hospital with sudden onset of visual impairment, headache, and high blood pressure, and she was eventually diagnosed with PRES by brain magnetic resonance imaging (MRI). Her PRES-associated clinical symptoms and MRI abnormalities were improved following anti-hypertensive treatment with calcium channel blocker. A kidney biopsy revealed diffuse proliferative glomerulonephritis with a full-house immunofluorescence pattern and fibrinoid necrosis in small blood vessels, suggesting a class IV-G (A) lupus nephritis with vasculitis. The immunosuppressive therapy with intravenous methylprednisolone pulse followed by oral prednisolone, mycophenolate mofetil, and intravenous belimumab, attenuated SLE-associated clinical manifestations including butterfly rush, edema, renal dysfunction, and proteinuria. Our case highlights the need to consider PRES as an initial clinical presentation of lupus nephritis and provide the early diagnosis and timely treatment to achieve a favorable outcome.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363871","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}

{"title":"Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease.","authors":"Misaki Akiyama, Keiko Matsubara, Hiroshi Terashima, Yuichi Abe, Kinji Ohno, Koichi Kamei","doi":"10.1007/s13730-025-00972-9","DOIUrl":"https://doi.org/10.1007/s13730-025-00972-9","url":null,"abstract":"<p><p>Uniparental isodisomy (UPiD) is a genetic condition in which an individual inherits two identical copies of a chromosome, or part of a chromosome, from one parent. UPiD can result in the development of autosomal recessive disorders if the chromosome inherited from one parent has a pathogenic variant. Herein, we present a 20 year-old female patient who had no significant family history including kidney, muscular, or ocular diseases. She had muscle weakness since infancy and was suspected with congenital myasthenia. She was diagnosed with Oguchi disease, a congenital condition characterized by night blindness, by an ophthalmologist. At 3 years of age, hematuria was noted, and gross hematuria was occasionally observed thereafter. Exome analysis revealed homozygous variants in the COL4A4, CHRND, and SAG genes on chromosome 2, which are the causative genes of Alport syndrome, congenital myasthenic syndrome, and Oguchi disease, respectively. Array comparative genomic hybridization analysis and microsatellite analysis revealed maternal UPiD. At approximately 18 years of age, she presented with proteinuria with mild kidney impairment, and kidney biopsy was performed at 20 years of age. Type IV collagen α5 chain staining showed a weak but positive image in the glomerular basement membrane. However, thinning and irregular thickening of the glomerular basement membrane and reticular changes in the dense layer were observed, which were consistent with Alport syndrome. Angiotensin II receptor blocker (candesartan) was administered, and her urinary protein levels decreased. She had a homozygous missense variant, positive α5 chain staining, and a mild phenotype.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254676","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}

{"title":"A case of end-stage kidney disease due to Alport syndrome diagnosed by skin biopsy after review of a renal biopsy 12 years ago.","authors":"Kenji Ueki, Akihiro Tsuchimoto, Yuta Matsukuma, Takanari Kitazono, Toshiaki Nakano","doi":"10.1007/s13730-024-00887-x","DOIUrl":"10.1007/s13730-024-00887-x","url":null,"abstract":"","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"111-112"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140875967","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 a cerebellar form of progressive multifocal leukoencephalopathy in a patient undergoing peritoneal dialysis.","authors":"Yu Waraya, Masato Habuka, Chihiro Sakurazawa, Yuichi Sakamaki, Asa Ogawa, Junsuke Shimbo, Kazuo Nakamichi, Suguru Yamamoto, Ichiei Narita","doi":"10.1007/s13730-024-00896-w","DOIUrl":"10.1007/s13730-024-00896-w","url":null,"abstract":"<p><p>Progressive multifocal leukoencephalopathy (PML), a severe demyelinating disease of the central nervous system, is caused by the reactivation of the polyomavirus JC virus (JCV). It favors the cerebrum and typically occurs in patients with immunodeficiencies, with a progressive course and fatal outcome in the majority of cases. However, the cerebellar form of PML, characterized by isolated posterior fossa lesions, such as those in the cerebellum or brainstem at disease onset, is rare, and reports of its occurrence in peritoneal dialysis (PD) patients are lacking. In this paper, we describe a rare case of a cerebellar form of PML in a PD patient. A 64-year-old man undergoing PD was referred to our hospital for anorexia, nausea, and vomiting in the past month. He had finger-to-nose test abnormalities, gaze-directed nystagmus, and scanning speech. He was diagnosed with the cerebellar form of PML based on his progressive cerebellar symptoms, the typical magnetic resonance imaging findings, and the presence of JCV-DNA in the cerebrospinal fluid polymerase chain reaction test. He developed nocturnal delirium, aggravated disquiet, and died of pneumonia on the 69th day. Clinicians should consider the cerebellar form of PML as a differential diagnosis if PD patients develop progressive cerebellar symptoms.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"6-10"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141185604","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":"Arterioureteral fistula and refractory fatal pseudo-aneurysm in a patient receiving kidney transplantation.","authors":"Hayato Fujioka, Hidenori Yamazaki, Teruhiko Imamura, Tsutomu Koike, Yu Arisawa, Sayaka Murai, Naotaka Nishiyama, Hiroshi Kitamura, Norihito Naruto, Kanetsugu Nagao, Shigeyuki Yamashita, Koichiro Kinugawa","doi":"10.1007/s13730-024-00895-x","DOIUrl":"10.1007/s13730-024-00895-x","url":null,"abstract":"<p><p>Arterioureteral fistula represents a rare yet consequential urological complication characterized by persistent and refractory urinary tract bleeding. Its emergence typically involves aneurysm formation, presenting significant life-threatening implications. Nonetheless, its infrequency contributes to sparse documentation of incidences in post-kidney transplant recipients, thereby fostering numerous uncertainties concerning associated risks. A 67-year-old male patient, afflicted with end-stage renal failure and a history of urinary tract infection, underwent a living donor kidney transplant four months prior. Complications involving intraoperative bleeding necessitated the prolonged placement of a ureteral stent post-surgery. Subsequently, he experienced an abrupt onset of ureteral bleeding accompanied by shock, later diagnosed via contrast-enhanced computed tomography as pseudo-aneurysm formation in the right external iliac artery proximal to the allograft renal artery anastomosis, in conjunction with a fistula formation involving the donor ureter. Despite repeated attempts at intervention with covered stenting, the aneurysm persisted and proved refractory to resolution. Tragically, seven months later, the aneurysm ruptured, culminating in the demise of the patient. Our report details a case involving perioperative complications following kidney transplantation, persistent bacteriuria, and prolonged ureteral stenting, ultimately leading to the development of an arterioureteral fistula. Despite undergoing stent graft insertion as an intervention, the patient succumbed to aneurysm rupture associated with the arterioureteral fistula. This condition, though rare, can prove fatal following kidney transplantation. Consequently, future endeavors in this domain necessitate an emphasis on optimizing risk management, refining diagnostic approaches, and devising more effective therapeutic strategies to mitigate such complications.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"16-23"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141246810","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 acute kidney injury and Fanconi syndrome while taking multiple supplements, including Red Yeast Rice Cholesterol Help^®.","authors":"Keiko Oda, Tomohiro Murata, Fumika Tanaka, Hidemasa Oda, Kayo Tsujimoto, Ayumi Fukumori, Masahiro Yamawaki, Ryosuke Saiki, Yasuo Suzuki, Kan Katayama, Kaoru Dohi","doi":"10.1007/s13730-024-00903-0","DOIUrl":"10.1007/s13730-024-00903-0","url":null,"abstract":"<p><p>A 62-year-old man visited his primary care physician with the complaints of loss of appetite and fatigue. He was admitted to our hospital based on a diagnosis of acute kidney injury, Fanconi syndrome as indicated by hypokalemia, hypouricemia, hypophosphatemia, elevated glucose levels in urine, and aminoaciduria. He had been taking multiple supplements, including Red Yeast Rice Cholesterol Help®, for one and a half years. After admission, all the supplements were stopped. Blood samples were collected; however, the samples were negative for diseases that could cause Fanconi syndrome. Renal biopsy revealed renal proximal tubular damage, mainly characterized by simplification of the proximal tubular epithelium. The mycotoxin, citrinin, which is reported to be produced by the mold used for producing red yeast rice, but not the mold Monascus pilosus used for Red Yeast Rice Cholesterol Help^®, reportedly causes proximal tubular damage. However, although the causative agent has not been identified, it was thought that a substance similar to citrinin, produced by the mold used for Red Yeast Rice Cholesterol Help®, caused proximal tubular damage, leading to acute kidney injury and Fanconi syndrome. Hence, all supplements were stopped, and the patient was treated with oral potassium and phosphorus preparations, leading to gradual recovery of his kidney function. We herein report the first case of acute kidney injury and Fanconi syndrome in a patient taking multiple health supplements, including Red Yeast Rice Cholesterol Help®. Early discontinuation of the oral supplements was probably useful in improving the patient's kidney function.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"47-51"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141426319","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":"Tubulointerstitial nephritis with storiform fibrosis in a patient with angioimmunoblastic T-cell lymphoma.","authors":"Haruka Fukuda, Mineaki Kitamura, Atsushi Sawase, Tadashi Uramatsu, Hiroshi Yamashita, Hideki Tsushima, Junji Irie, Eisuke Katafuchi, Seiya Kato, Mai Takeuchi, Koichi Ohshima, Toshiyuki Nakayama, Hiroshi Mukae, Tomoya Nishino","doi":"10.1007/s13730-024-00901-2","DOIUrl":"10.1007/s13730-024-00901-2","url":null,"abstract":"<p><p>We present a case of an angioimmunoblastic T-cell lymphoma (AITL) and tubulointerstitial nephritis with storiform fibrosis in a 76-year-old man. The patient exhibited lymphadenopathy, polyclonal hypergammaglobulinemia, and renal dysfunction and was diagnosed with AITL on the basis of lymph node biopsy findings. The serum IgG4 level was highly elevated. Renal biopsy revealed IgG4-positive plasma cells and storiform fibrosis without infiltration of AITL, and the findings indicated IgG4-related kidney disease (IgG4-RKD). Following THPCOP therapy for AITL, the renal function improved. While diagnosing IgG4-RKD in a patient with AITL poses challenges, follicular helper T cell involvement appeared crucial in AITL and renal tubulointerstitial lesions in this case.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"39-46"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141431492","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":"Hyperkalemia presentation at a clinic during the cold season.","authors":"Ryo Takaki, Kaori Kohatsu, Katsuhisa Kuwano, Masahiko Yazawa","doi":"10.1007/s13730-024-00902-1","DOIUrl":"10.1007/s13730-024-00902-1","url":null,"abstract":"<p><p>Familial pseudohyperkalemia (FP) is an underrecognized cause of pseudohyperkalemia, caused by the leaking of potassium from red blood cells. This extracellular shift of potassium is temperature-dependent and occurs when blood samples are stored below room temperature or for a long time, manifesting as apparent hyperkalemia. We report a suspicious case of FP, which demonstrated an apparent seasonal trajectory of serum-potassium levels at the local clinic. At first, laboratory test results did not show an increase in the serum-potassium levels in our tertiary hospital. However, by replicating the clinic's storage conditions, the patient's serum sample showed hyperkalemia only when it was stored at a temperature of 4 °C or 20 °C for 4-8 h. Hyperkalemia was not observed in the patient's sample when it was stored at 37 °C, or in the healthy control's sample at a temperature of 20 °C or 37 °C. When encountering hyperkalemia without an obvious cause and symptoms, physicians should consider pseudohyperkalemia in the differential diagnosis. In particular, if a seasonal trajectory of serum-potassium levels is observed, FP should be suspected as a potential cause of pseudohyperkalemia. Although a genetic test is needed to properly diagnose FP, confirming it by verifying the sample storage conditions or proving it by replicating the test using different storage conditions is easy and very important, as it can prevent unnecessary treatment.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"34-38"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418104","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 multiorgan failure due to carbamazepine intoxication successfully treated with multimodal blood purification therapy.","authors":"Chihiro Sakurazawa, Masato Habuka, Yoshifumi Hoshino, Yuichi Sakamaki, Asa Ogawa, Suguru Yamamoto, Hidenori Kinoshita, Ichiei Narita","doi":"10.1007/s13730-024-00900-3","DOIUrl":"10.1007/s13730-024-00900-3","url":null,"abstract":"<p><p>Carbamazepine (CBZ) intoxication can occur due to various factors, including drug interactions and over-ingestion. Extracorporeal elimination, particularly through hemodialysis and hemoperfusion, is effective in treating severe carbamazepine intoxication. However, as the effectiveness of various modalities can differ, method selection may be based on a specific clinical situation. A 47-year-old woman who took CBZ for schizophrenia presented to our hospital with episodes of vomiting and consciousness disorder. As the CBZ concentration was > 20 μg/mL, she was admitted to the intensive care unit with a diagnosis of acute CBZ poisoning. She underwent one session of hemoperfusion for 2 h, and her CBZ level decreased from > 20 µg/mL to 6.4 µg/mL. However, she developed acute kidney and liver injuries 2 days after admission and underwent intermittent hemodialysis, plasma exchange, continuous hemodiafiltration (CHDF), and online HDF, depending on her condition. Her general condition improved, and she was transferred to the psychiatric department. To our knowledge, no case reports have described severe acute CBZ poisoning in a patient who developed multiorgan failure to date, which was successfully treated with multimodal blood purification therapy. When treating severe CBZ intoxication, blood purification therapy should be tailored to the changing pathophysiology of the condition.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"29-33"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418103","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 chronic kidney disease with refractory periodic vomiting and hypertension in a pediatric patient.","authors":"Yasuyo Kashiwagi, Hironobu Okuno, Satoko Nishida, Hiroki Ishii, Gaku Yamanaka","doi":"10.1007/s13730-024-00905-y","DOIUrl":"10.1007/s13730-024-00905-y","url":null,"abstract":"<p><p>Patients with chronic kidney disease (CKD) sometimes experience gastrointestinal symptoms, such as nausea and vomiting. In addition, hypertension and CKD are closely linked, and sustained hypertension in children is associated with the progression of CKD, leading to early cardiomyopathy and premature atherosclerosis. These symptoms substantially affect the quality of daily life of CKD patients, and particularly in children with CKD, they may cause growth retardation. Therefore, establishing effective management methods to alleviate these symptoms is very important. Here, we report a case of a male patient who was born at 34 weeks of gestation weighing 1400 g. At birth, abdominal ultrasonography displayed left multicystic dysplastic kidney. From 6 months after birth, he was frequently hospitalized owing to refractory periodic vomiting. At 9 months old, he was diagnosed as having stage 3a CKD, and at 20 months old, he presented with stage 2 high blood pressure. In Japan, the uremic toxin adsorbent AST-120 and angiotensin-converting enzyme inhibitor-I (ACE-I) are not strongly recommended for CKD patients. However, after the patient underwent combination therapy of AST-120 and ACE-I, his frequent hospitalizations for refractory periodic vomiting ceased, and his blood pressure decreased. These results indicate that AST-120 and ACE-I are effective for refractory periodic vomiting and hypertension associated with CKD. The patient's height, weight, and mental development are catching up smoothly. The cause of the patient's refractory periodic vomiting remains unclear. However, his impaired kidney function owing to congenital anomalies of the kidney and urinary tract may have caused the refractory periodic vomiting and dehydration. The production of uremic toxins in CKD patients is thought to lead to the secretion of proinflammatory cytokines into the circulation. However, our patient had low serum levels of proinflammatory cytokines, and his serum levels of the chemokines CX3CL1 and CCL2 decreased with age, together with improvement in his clinical course. Therefore, some specific chemokines might be diagnostic and/or prognostic biomarkers of CKD.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"103-107"},"PeriodicalIF":1.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141578974","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}