{"title":"Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant.","authors":"Yuko Yamada, Hiroki Yokoyama, Ryo Kinoshita, Koichi Kitamoto, Yasuo Kawaba, Shinichi Okada, Takashi Horie, China Nagano, Kandai Nozu, Noriyuki Namba","doi":"10.1007/s13730-023-00830-6","DOIUrl":"10.1007/s13730-023-00830-6","url":null,"abstract":"<p><p>Paired box protein 2 (PAX2) gene variant causes renal coloboma syndrome (MIM#120330). Further, they are associated with focal segmental glomerulosclerosis and characterized by basement membrane changes similar to Alport syndrome.Herein, we report an 8-year-old boy who presented with proteinuria and decreased renal function. His paternal uncle has focal segmental glomerulosclerosis and renal failure, and his paternal grandmother has renal failure and is receiving peritoneal dialysis. Further, his father has stage 2 chronic kidney disease. At 3 years of age, his serum creatinine-estimated glomerular filtration rate was 40-50 mL/min/1.73 m<sup>2</sup>. At 8 years of age, his renal function further decreased and he had proteinuria (urinary protein/Cr 3.39 g/g Cr). Renal histopathology showed oligonephronia and focal segmental glomerulosclerosis. A partial basket-weave pattern, similar to Alport syndrome, was also observed on a transmission electron microscope, and low-vacuum scanning electron microscopy revealed coarse meshwork changes in the glomerular basement membrane. Genetic analysis revealed a PAX2 heterozygous variant (NM_003987.4:c.959C > G), a nonsense variant in which the serine at position 320 changes to a stop codon, in our patient and his father. PAX2 is a transcription factor that is important for the podocyte variant. However, podocytes with PAX2 gene variants may cause abnormal basement membrane production and repair, thereby resulting in Alport-like changes.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"204-208"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66783618","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 : 2024-06-01DOI: 10.1007/s13730-024-00877-z
Hassaan Iftikhar, Maryam Saleem, Frank O'Brien
{"title":"Retraction Note: Anaphylaxis secondary to citric acid allergy in End Stage Renal Disease patient.","authors":"Hassaan Iftikhar, Maryam Saleem, Frank O'Brien","doi":"10.1007/s13730-024-00877-z","DOIUrl":"10.1007/s13730-024-00877-z","url":null,"abstract":"","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"228"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140847391","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":"Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome with recurrent acute cholecystitis: a case report.","authors":"Ryuta Uwatoko, Nao Kani, Shuzo Makino, Tomoya Naka, Kazuhiro Okamoto, Hiromitsu Miyakawa, Nobuhiro Hashimoto, Rei Iio, Yoshiyasu Ueda, Terumasa Hayashi","doi":"10.1007/s13730-023-00831-5","DOIUrl":"10.1007/s13730-023-00831-5","url":null,"abstract":"<p><p>Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome (STEC-HUS) can induce life-threatening complications, including acute kidney injury, encephalopathy, and gastrointestinal complications. On the other hand, there have been few reports of cholecystitis associated with STEC-HUS. In this study, we report the case of an 83-year-old Japanese man who developed recurrent acute cholecystitis associated with STEC-HUS. Prior to establishing a definite diagnosis of STEC-HUS, plasma exchange and hemodialysis were initiated, which resulted in a rapid increase in the platelet count and decrease in lactate dehydrogenase levels. The patient presented an enlarged gallbladder detected by computed tomography during the course of treatment. Due to recurrent flare-ups, the patient had to undergo several rounds of endoscopic retrograde biliary drainage and, ultimately, cholecystectomy to prevent relapse of acute cholecystitis. Since cholecystitis was thought to have been caused by complex mechanisms in this case, we discussed those from multiple perspectives. This case report highlights the need for particular care to be given to the management of pre-existing diseases as well as STEC-HUS, especially in older patients.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"215-219"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92152949","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 successful treatment for chronic active Epstein-Barr virus disease with Nephrotic Syndrome.","authors":"Yasuhiro Inaba, Akinori Miyazono, Kenichi Imadome, Shinji Aratake, Yasuhiro Okamoto","doi":"10.1007/s13730-023-00815-5","DOIUrl":"10.1007/s13730-023-00815-5","url":null,"abstract":"<p><p>Chronic active Epstein-Barr virus (CAEBV) disease is more likely to occur when a patient is on immunosuppressive therapy for any disease or is susceptible to infection, and the prognosis is poor without appropriate treatment, including hematopoietic stem cell transplantation (HSCT). In addition to HSCT, several other chemotherapy regimens have been reported, but all of them are difficult to maintain in remission. Without HSCT, survival rates have been reported to be 50% in 5 years and 25% in 15 years. This is a report of a 13-year-old boy who developed CAEBV disease during cyclosporine A (CyA) treatment for the steroid-dependent nephrotic syndrome (SDNS). Since SDNS precluded HSCT or chemotherapy, CyA was tapered off based on the belief that alleviating his immunosuppressed state would decrease the CAEBV disease. We decided to gradually reduce the CyA dose to activate T-cell immunity, while periodically monitoring the EBV viral load. Finally, we found an appropriate dose that could suppress both CAEBV disease and SDNS, and it lasted for more than 9 years. No case has been reported to date in which a patient developed CAEBV disease while receiving immunosuppressive drugs for the primary disease, and both diseases were controlled only by reducing the dose of immunosuppressive drugs. In this report, we show that dose reduction of immunosuppressive agents without chemotherapy or HSCT is an effective option for the treatment of CAEBV disease in patients receiving immunosuppressive agents.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"145-148"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10508814","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 : 2024-06-01Epub Date: 2023-10-06DOI: 10.1007/s13730-023-00823-5
Craig Peter Coorey, Amirhossein Aarabi, Karthik Kumar
{"title":"Mixed cryoglobulinaemia vasculitis secondary to marginal zone lymphoma in a patient with end-stage renal failure on haemodialysis.","authors":"Craig Peter Coorey, Amirhossein Aarabi, Karthik Kumar","doi":"10.1007/s13730-023-00823-5","DOIUrl":"10.1007/s13730-023-00823-5","url":null,"abstract":"<p><p>Cryoglobulinaemia vasculitis can present with a variety of symptoms and there is limited data on the incidence and presentation of cryoglobulinaemia vasculitis in haemodialysis patients. We report a case of a 63-year-old male who had a series of presentations with rash, visual changes, abdominal pain, weight loss, fevers and digital ischaemia. This is on a background of a congenital single kidney with end-stage renal failure secondary to diabetes and hypertension, receiving haemodialysis for nearly 5 years. He initially experienced a leukocytoclastic vasculitis rash confirmed on skin biopsy, followed by multiple hospital presentations for undifferentiated abdominal pain and fever of unknown source. Jejunal biopsy revealed intestinal vasculitis. His peripheral blood flow cytometry and bone marrow biopsy were consistent with marginal zone lymphoma (indolent subtype, IgM kappa clone). Further testing revealed a type II cryoglobulinaemia consisting of an IgM kappa monoclonal band with polyclonal IgG (cryocrit 5%). A diagnosis of cryoglobulinaemia vasculitis was established and he was treated with pulsed methylprednisolone and rituximab therapy. However, after receiving three doses of rituximab the patient developed a presumed vasculitis-associated pulmonary haemorrhage for which he received treatment with five sessions of plasma exchange. His symptoms resolved and cryocrit reduced to < 1% after his final dose of rituximab. The clinical features of cryoglobulinaemia may be difficult to detect in chronic haemodialysis patients and vigilance is required.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"168-173"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41092816","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 : 2024-06-01Epub Date: 2023-10-28DOI: 10.1007/s13730-023-00828-0
Zhenyu Zhang, Hai Wang, Ying Jiang, Zhongming Huang
{"title":"Renal inflammatory myofibroblastic tumor coexisting with hemophilia A carrier: a case report and literature review.","authors":"Zhenyu Zhang, Hai Wang, Ying Jiang, Zhongming Huang","doi":"10.1007/s13730-023-00828-0","DOIUrl":"10.1007/s13730-023-00828-0","url":null,"abstract":"<p><p>Renal inflammatory myofibroblastic tumor (IMT) is an exceptionally uncommon occurrence. This report presented the first documented case of renal IMT coexisting with hemophilia A carrier status. A 52-year-old asymptomatic female was incidentally discovered to have a kidney mass during a routine computed tomography (CT) scan spanning a 5-month period. Ultrasonography and contrast-enhanced CT scan raised suspicion of a potential renal malignant tumor. Over 2 decades ago, the patient experienced significant bleeding during childbirth, and she possessed a 5-year history of rheumatoid arthritis. Following a radical surgical procedure, intravenous supplementation of factor VIII was administered during the perioperative period. Subsequent to strenuous defecation, the patient encountered hematuria. Continued coagulation factor supplementation led to alleviation of hematuria symptoms. The underlying causes and pathogenesis responsible for IMT remain unclear. IMT is often associated with rheumatoid arthritis, possibly suggesting a connection to its etiology. Surgical excision stands as the primary approach to treatment, with recurrence being an exceedingly rare event. In instances where hemophilia is a complicating factor, vigilant monitoring of coagulation function and appropriate coagulation factor supplementation is imperative.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"199-203"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66783620","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":"Nephrotic syndrome induced by aortic regurgitation with Takayasu arteritis: an autopsy case with long-term clinical follow-up.","authors":"Kota Kakeshita, Teruhiko Imamura, Akira Noguchi, Sayaka Murai, Hayato Fujioka, Hidenori Yamazaki, Tsutomu Koike, Koichiro Kinugawa","doi":"10.1007/s13730-023-00819-1","DOIUrl":"10.1007/s13730-023-00819-1","url":null,"abstract":"<p><p>Takayasu arteritis is a rare, chronic, and large-vessel vasculitis involving the aorta and its branches in a complex autoimmune reaction. Takayasu arteritis sometimes complicates aortic regurgitation and chronic kidney disease, but rarely accompanies nephrotic syndrome. We had a patient with Takayasu arteritis and concomitant aortic regurgitation. She had nephrotic syndrome that was refractory to immunosuppressive therapy but was promptly improved after surgical aortic valve replacement. In her kidney biopsy, glomeruli had mild mesangial proliferative changes without immune complex deposition. Her proteinuria remained negative until the recurrence of aortic regurgitation due to perivalvular leakage. Seventeen years after the surgery, she died suddenly. In her kidney autopsy, the arteriolar showed severe hyalinosis and the glomerulus showed mesangial proliferative changes with segmental mesangiolysis. Severe aortic regurgitation may have altered renal hemodynamics and caused glomerular lesions, resulting in nephrotic syndrome. We should be aware of the rare but critical comorbidity of nephrotic syndrome in patients with Takayasu arteritis and concomitant aortic regurgitation.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"154-160"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41111620","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 emphysematous pyelonephritis in an older man with poorly controlled type 2 diabetes mellitus.","authors":"Mayuka Nishikawara, Makoto Harada, Daiki Yamazaki, Tetsuji Kakegawa, Koji Hashimoto, Yuji Kamijo","doi":"10.1007/s13730-023-00821-7","DOIUrl":"10.1007/s13730-023-00821-7","url":null,"abstract":"<p><p>Emphysematous pyelonephritis (EPN) is a necrotizing bacterial infection characterized by gas retention and a poor prognosis. We present the case of a 75-year-old man who was diagnosed early with EPN and received multidisciplinary treatment. He had poorly controlled type 2 diabetes mellitus (DM) and chronic kidney disease (CKD), and was treated with oral hypoglycemic drugs, including a sodium-glucose co-transporter-2 inhibitor. He experienced the onset of back pain in the midsection of his back, tenderness in the costovertebral angle, and a high fever (> 39 °C), accompanied by tachycardia, hypotension, and tachypnea. The patient was diagnosed with pyelonephritis and septic shock. Immediate measures encompassing empirical antibiotic therapy, administration of noradrenaline, blood glucose regulation, and urethral catheterization were implemented. However, due to the persistent fever (> 38 °C) and lack of improvement in his condition, abdominal computed tomography (CT) was repeated on the fourth day. This revealed the presence of gas around the right kidney parenchyma, leading to a diagnosis of EPN that had evolved from acute pyelonephritis. Subsequently, percutaneous drainage of the right kidney parenchyma was performed. Subsequently, multidisciplinary treatment was continued, and his condition gradually improved. Clinicians should evaluate abdominal CT when acute pyelonephritis does not improve within a few days of antibiotic therapy. Disease progression from acute pyelonephritis to EPN should be considered in patients with DM and CKD.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"161-167"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41109206","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":"Pauci-immune crescentic glomerulonephritis caused to dilemma in a patient with suspected systemic lupus erythematosus: a case report.","authors":"Cihan Uysal, Sule Ketenci Ertas, Merve Civan, Hulya Akgun, Ismail Kocyigit","doi":"10.1007/s13730-023-00825-3","DOIUrl":"10.1007/s13730-023-00825-3","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic autoimmune disease and there is a distinct differentiation of clinical manifestations. Lupus nephritis (LN) is clinically apparent in approximately half of patients. A kidney biopsy is essential to define the kidney injury, exclude other injurious causes, and determine the histopathologic subtypes. Autoantibodies are crucial to the pathogenesis and the deposition of immune complexes in glomeruli is a hallmark of LN. The histopathology of LN is quite varied. Despite pauci-immune LN being an unexpected condition in SLE, it has been observed rarely with the presence of antineutrophil cytoplasmic autoantibodies (ANCA). We present a young male who was admitted to the emergency with syncope. The brain imaging revealed small infarct areas and signs of cerebral vasculitis. Also, he had elevated inflammatory markers, moderate proteinuria, and preserved kidney function. Anti-nuclear antibodies and anti-dsDNA were positive. Pauci-immune crescentic glomerulonephritis (PICGN) was observed in a kidney biopsy, however, ANCA was negative. SLE diagnosis was established by neurological manifestation, specific antibodies, proteinuria, and kidney biopsy findings. We administered a combination induction regimen, including pulse steroid and parenteral cyclophosphamide. The proteinuria was resolved in the follow-up. Our case highlights that SLE-associated ANCA-negative PICGN can be the initial presentation in the absence of typical manifestations. LN exhibits various pathological mechanisms in the kidney. As a consequence, SLE should be considered in the differential diagnosis of all forms of kidney injury.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"174-180"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41192562","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 : 2024-06-01Epub Date: 2023-10-28DOI: 10.1007/s13730-023-00829-z
Summer Hoang, Thejeswi Pujar, Ezequiel Bellorin-Font, John C Edwards, Kana N Miyata
{"title":"A case of ifosfamide-induced acute kidney injury, Fanconi syndrome, and nephrogenic diabetes insipidus.","authors":"Summer Hoang, Thejeswi Pujar, Ezequiel Bellorin-Font, John C Edwards, Kana N Miyata","doi":"10.1007/s13730-023-00829-z","DOIUrl":"10.1007/s13730-023-00829-z","url":null,"abstract":"<p><p>Ifosfamide, a cytotoxic antineoplastic drug, can induce rare complications of Fanconi syndrome and nephrogenic diabetes insipidus (DI). Ifosfamide-induced Fanconi syndrome tends to occur in patients with certain risk factors including young age, high cumulative ifosfamide dose, and coadministration of cisplatin. Nephrogenic DI causes polyuria from impaired urinary concentrating ability due to resistance to arginine vasopressin (AVP) at the collecting duct. These complications are serious and potentially fatal. Here, we describe a case of a middle-aged man without risk factors who was admitted for the management of acute kidney injury and electrolyte derangements after his fourth cycle of chemotherapy including ifosfamide for synovial sarcoma. He was found to have hypokalemia, hypophosphatemia, renal glycosuria, and aminoaciduria, likely from Fanconi syndrome, which were managed by electrolyte replacement therapy. In addition, polyuria and hypernatremia were considered due to nephrogenic DI, which partially responded to desmopressin treatment. This case highlights the importance of the routine electrolytes monitoring after ifosfamide treatment.</p>","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":" ","pages":"194-198"},"PeriodicalIF":1.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66783617","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}