Case Reports in Nephrology and Dialysis最新文献

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Telitacicept Treatment Refractory Lupus Nephritis: A Case Report. Telitacicept 治疗难治性狼疮性肾炎:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-03-22 eCollection Date: 2024-01-01 DOI: 10.1159/000538033
Sijia Li, Shuting Deng, Sichun Wen, Siqi Peng, Nan Jiang, Bohou Li, Boxi Chen, Ye Yuan, Qiong Wu, Yiming Tao, Jianchao Ma, Ting Lin, Feng Wen, Zhuo Li, Hao Dai, Renwei Huang, Zhonglin Feng, Zhilian Li, Shuangxin Liu, Lixia Xu
{"title":"Telitacicept Treatment Refractory Lupus Nephritis: A Case Report.","authors":"Sijia Li, Shuting Deng, Sichun Wen, Siqi Peng, Nan Jiang, Bohou Li, Boxi Chen, Ye Yuan, Qiong Wu, Yiming Tao, Jianchao Ma, Ting Lin, Feng Wen, Zhuo Li, Hao Dai, Renwei Huang, Zhonglin Feng, Zhilian Li, Shuangxin Liu, Lixia Xu","doi":"10.1159/000538033","DOIUrl":"10.1159/000538033","url":null,"abstract":"<p><strong>Introduction: </strong>Refractory lupus nephritis (LN) causes kidney disease progression and increases the risk of loss of renal function. Due to the high specificity and few side effects of biological agents, they are recommended for the treatment of systemic lupus erythematosus. There are few data on telitacicept for the treatment of refractory LN.</p><p><strong>Case presentation: </strong>Here, we report the efficacy and safety of telitacicept in the treatment of refractory LN in a 25-year-old female patient. This patient with refractory lupus developed <i>Pneumocystis jirovecii</i> pneumonia while using multitargeted therapy, and the patient's urine protein was rapidly relieved after telitacicept combination with low-dose mycophenolate mofetil (MMF).</p><p><strong>Conclusion: </strong>This result suggests that telitacicept has a positive effect on refractory LN with no significant side effects. Further reports and a registry are necessary to confirm that telitacicept with low-dose MMF should be preferred in refractory LN.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"42-47"},"PeriodicalIF":0.7,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10959545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140206345","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
Overlap Syndrome of Diffuse Systemic Sclerosis, Sjögren Syndrome, and ANCA-Associated Renal-Limited Vasculitis: Three Entities in One Patient - Case Report. 弥漫性系统性硬化症、斯约格伦综合征和 ANCA 相关性肾局限性血管炎的重叠综合征:一名患者的三种实体--病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-03-22 eCollection Date: 2024-01-01 DOI: 10.1159/000537873
Angela Maria Cordoba-Hurtado, Laura Fuentes-Mendez, Lucia Monserrat Perez-Navarro, Virgilia Soto-Abraham, Rafael Valdez-Ortiz
{"title":"Overlap Syndrome of Diffuse Systemic Sclerosis, Sjögren Syndrome, and ANCA-Associated Renal-Limited Vasculitis: Three Entities in One Patient - Case Report.","authors":"Angela Maria Cordoba-Hurtado, Laura Fuentes-Mendez, Lucia Monserrat Perez-Navarro, Virgilia Soto-Abraham, Rafael Valdez-Ortiz","doi":"10.1159/000537873","DOIUrl":"10.1159/000537873","url":null,"abstract":"<p><strong>Introduction: </strong>The presence of three different entities in a single patient is usually of clinical interest and mostly anecdotal. The overlap of systemic sclerosis (SSc), Sjögren syndrome (SS), and ANCA-associated renal-limited vasculitis has been reported only once previously.</p><p><strong>Case presentation: </strong>A 61-year-old female was evaluated at consultation with 2 years of symptomatology, presenting cardboard-like skin, sclerodactyly, limited oral opening, and dry skin and eyes. She was admitted for progressive renal failure (serum creatinine, 5.5 mg/dL). Her serology work-up showed positive anti-SCL-70, anti-Ro, anti-La, anti-MPO, and antinuclear antibodies. Renal biopsy was performed and confirmed histological findings for SSc, SS, and ANCA-associated vasculitis with active extracapillary glomerulonephritis with fibrous predominance (EUVAS-Berden sclerotic class), active tubulointerstitial nephritis, focal tubular injury, and moderate chronic arteriolopathy. Treatment with 6 monthly doses of methylprednisolone and cyclophosphamide was established. At the last follow-up, the patient maintained a stable serum creatinine level of 2.6 mg/dL and had decreased proteinuria, no erythrocyturia, and no requirement for renal replacement therapy.</p><p><strong>Conclusion: </strong>Systemic sclerosis is a rare autoimmune disease; nevertheless, overlap with Sjögren syndrome is relatively common, although its association with ANCA vasculitis is anecdotal. Diagnostic integration presents a challenge for nephrologists to define the prognosis and a specific treatment.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"48-55"},"PeriodicalIF":0.7,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10959543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140206344","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
Propylthiouracil-Induced Antineutrophil Cytoplasmic Antibody-Associated Vasculitis with Overlap IgA Nephropathy: A Case Report. 丙基硫氧嘧啶诱导的抗中性粒细胞胞浆抗体相关性血管炎合并 IgA 肾病:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-03-04 eCollection Date: 2024-01-01 DOI: 10.1159/000536618
Georgina Oakman, Cindy Ong
{"title":"Propylthiouracil-Induced Antineutrophil Cytoplasmic Antibody-Associated Vasculitis with Overlap IgA Nephropathy: A Case Report.","authors":"Georgina Oakman, Cindy Ong","doi":"10.1159/000536618","DOIUrl":"10.1159/000536618","url":null,"abstract":"<p><strong>Background: </strong>The anti-thyroid medication propylthiouracil (PTU) is a recognised cause of drug-induced antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Pauci-immune crescentic glomerulonephritis is the characteristic feature of this condition on renal biopsy. We present a case of PTU-induced AAV with the unusual histological finding of overlap IgA nephropathy (IgAN) in a young female with treatment-resistant Graves' disease.</p><p><strong>Case report: </strong>A 26-year-old female presented with an acute kidney injury, macroscopic haematuria, and proteinuria 14 months after starting PTU for Graves' disease. She had a history of established thyroid eye disease and a previous severe adverse reaction to carbimazole. Her autoantibodies were strongly positive for myeloperoxidase-ANCA (199 U/mL). Renal biopsy demonstrated both necrotising crescentic glomerulonephritis and prominent (3+) mesangial deposition of IgA. She was treated with glucocorticoids and rituximab with sustained improvement in her renal function but persisting mild proteinuria and microscopic haematuria. PTU was ceased following a dose of radioactive iodine (RAI). Twelve months post-RAI, her Graves' orbitopathy remained stable, and her thyroid function was gradually normalising.</p><p><strong>Conclusion: </strong>This was a case of drug-induced AAV with histological features of overlap IgAN. We suggest that this patient had pre-existing subclinical IgAN and then developed AAV secondary to PTU. The management of her thyroid disease was complex given the PTU-induced vasculitis, previous reaction to carbimazole, the risks of a thyroidectomy on immunosuppression, and the possible worsening of her eye disease with RAI. The glucocorticoids and Rituximab prescribed for vasculitis may have prevented the progression of her Graves' orbitopathy after RAI.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"36-41"},"PeriodicalIF":0.7,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140027493","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
Decrease in Mycophenolic Acid Plasma Level by Sacubitril/Valsartan in a Lupus Nephritis Patient: A Case Report. 狼疮性肾炎患者血浆中的霉酚酸水平因萨库比特利/缬沙坦而下降:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-02-28 eCollection Date: 2024-01-01 DOI: 10.1159/000536468
Shunsuke Nashimoto, Masashi Miyamae, Issei Higuchi, Michihito Kono, Maria Tada, Tatsuya Atsumi, Mitsuru Sugawara, Yoh Takekuma
{"title":"Decrease in Mycophenolic Acid Plasma Level by Sacubitril/Valsartan in a Lupus Nephritis Patient: A Case Report.","authors":"Shunsuke Nashimoto, Masashi Miyamae, Issei Higuchi, Michihito Kono, Maria Tada, Tatsuya Atsumi, Mitsuru Sugawara, Yoh Takekuma","doi":"10.1159/000536468","DOIUrl":"10.1159/000536468","url":null,"abstract":"<p><strong>Introduction: </strong>Mycophenolate mofetil (MMF), an inactive prodrug of mycophenolic acid (MPA), is an immunosuppressive drug used widely in the treatment of lupus nephritis. In this case report, the area under the blood concentration time curve (AUC) of MPA was significantly decreased by the concomitant use of sacubitril/valsartan.</p><p><strong>Case presentation: </strong>The patient was a man in his 40s with a diagnosis of lupus nephritis class IVa/c+V. MMF dose was 1.5 g/day at admission, and AUC of MPA on day 14 was 25.1 μg⋅h/mL. Owing to poor blood pressure control, sacubitril/valsartan was initiated at 97/103 mg/day on day 29. On day 37, AUC of MPA was significantly decreased to 8.7 μg⋅h/mL, suggesting drug interaction with the newly initiated sacubitril/valsartan. Sacubitril/valsartan was decreased to 49/51 mg/day, and AUC of MPA on day 67 was 37.6 μg⋅h/mL, achieving the target range. The final MMF dose was set at 1.75 g/day. A possible mechanism of drug interaction between sacubitril/valsartan and MPA involves an organic anion transporting polypeptide (OATP). The inhibition of OATPs by sacubitril may have interrupted the enterohepatic circulation of MPA, resulting in a lower plasma concentration.</p><p><strong>Conclusion: </strong>Since lupus nephritis is often associated with hypertension, the drug interaction observed in this report may also occur in other cases. However, it is impossible to conclude that the decrease in plasma MPA levels was due to the concomitant use of sacubitril/valsartan, and more cases and basic findings are needed.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"30-35"},"PeriodicalIF":0.7,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10901534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139989419","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
Hydroxychloroquine-Induced Renal Phospholipidosis: Case Report and Review of Differential Diagnoses 羟氯喹诱发的肾磷脂病:病例报告和鉴别诊断回顾
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-02-16 DOI: 10.1159/000536448
Amélie Friederike Menke, B. Heitplatz, V. van Marck, Hermann Pavenstädt, Ulrich Jehn
{"title":"Hydroxychloroquine-Induced Renal Phospholipidosis: Case Report and Review of Differential Diagnoses","authors":"Amélie Friederike Menke, B. Heitplatz, V. van Marck, Hermann Pavenstädt, Ulrich Jehn","doi":"10.1159/000536448","DOIUrl":"https://doi.org/10.1159/000536448","url":null,"abstract":"Abstract Introduction Renal phospholipidosis describes the accumulation of phospholipids in the lysosomes of kidney cells, in particular podocytes. Originally, this was described primarily in the context of the lysosomal storage disorder Fabry disease. It is now known that a variety of drugs can lead to the accumulation of lysosomal phospholipids. Case Presentation We present the case of a 69-year-old female patient suffering chronic kidney disease and systemic lupus erythematosus who underwent a kidney biopsy because of a further increase in serum creatinine levels. There was no evidence of lupus nephritis, but electron microscopy showed zebra bodies as a morphological sign of phospholipidosis. This was most likely drug-induced after 25 years of continuous medication with hydroxychloroquine. A renal biopsy 2 years and 6 months earlier, when the renal function of the patient was distinctively better, showed no signs of renal phospholipidosis. Afterward, medication with hydroxychloroquine was discontinued, and renal function parameters remained stable in the 1-year course. Conclusion This case raises the question of how severely impaired renal function affects the risk of hydroxychloroquine-induced renal phospholipidosis and underlines that hydroxychloroquine should be administered with caution in patients with kidney insufficiency. Moreover, we provide a review of the causes of renal phospholipidosis, which have been described in the literature and give an overview of possible differential diagnoses in cases with histologically proven phospholipidosis in renal biopsies.","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"321 19","pages":"20 - 29"},"PeriodicalIF":0.7,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139833593","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
Preservation of Peritoneal Dialysis in Liver Surgery with Robotic Technique: A Case Report. 利用机器人技术在肝脏手术中保留腹膜透析:病例报告
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-01-31 eCollection Date: 2024-01-01 DOI: 10.1159/000536139
Paolo Ria, Stefano Garritano, Vilma Martella, Antonio De Pascalis, Anna Zito, Marcello Napoli, Marcello Spampinato, Stefano D'Ugo
{"title":"Preservation of Peritoneal Dialysis in Liver Surgery with Robotic Technique: A Case Report.","authors":"Paolo Ria, Stefano Garritano, Vilma Martella, Antonio De Pascalis, Anna Zito, Marcello Napoli, Marcello Spampinato, Stefano D'Ugo","doi":"10.1159/000536139","DOIUrl":"10.1159/000536139","url":null,"abstract":"<p><strong>Introduction: </strong>During the last year, the features of peritoneal dialysis patients have changed, and the cases in which there is a need to perform abdominal surgery are growing. Reports of abdominal surgery in patients who are able to continue peritoneal dialysis are increasing. The minimally invasive techniques represent the preferred and safest approach. Such techniques are associated with reduced hospitalization time, less invasiveness, peritoneal integrity preservation, and reduced intra-abdominal inflammation due to regenerative processes.</p><p><strong>Case presentation: </strong>In this case report, we present a case of major abdominal surgery, in the form of hepatic metastasectomy, performed with the robotic-assisted technique, which allowed catheter and intracorporeal dialysis preservation. The patient showed a strong determination to continue with peritoneal dialysis as long as possible. During the switch to hemodialysis, he performed prophylactic antibiotic therapy to preserve the peritoneal catheter, and the patient was instructed to have a reduced water intake, avoiding excessive ultrafiltration potentially deteriorating the residual renal function. Special care was also taken to avoid any nephrotoxic drug. The peritoneal treatment was restarted after 3 weeks with low volume exchange for the first 10 days, and the pre-surgery dialysis volumes were then re-established. After surgery, the patient showed adequate clearance of solutes and ultrafiltration similar to the preoperative period. The patient did not encounter any wound complications.</p><p><strong>Conclusion: </strong>Robotic surgery represents a further aid in peritoneal dialysis preservation after abdominal surgery. A detailed communication with the patient before performing this kind of procedure and a strong will to preserve the peritoneal method are essential.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"15-19"},"PeriodicalIF":0.7,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10830135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139650300","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
Relapsing Peritoneal Dialysis-Associated Peritonitis due to Kocuria rhizophila: A Case Report. Kocuria rhizophila 引起的复发性腹膜透析相关性腹膜炎:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-01-03 eCollection Date: 2024-01-01 DOI: 10.1159/000534765
Mayumi Nakata, Hiroshi Kuji, Takumi Toishi, Tomohiko Inoue, Atsuro Kawaji, Masatoshi Matsunami, Junko Fukuda, Mamiko Ohara, Tomo Suzuki
{"title":"Relapsing Peritoneal Dialysis-Associated Peritonitis due to <i>Kocuria rhizophila</i>: A Case Report.","authors":"Mayumi Nakata, Hiroshi Kuji, Takumi Toishi, Tomohiko Inoue, Atsuro Kawaji, Masatoshi Matsunami, Junko Fukuda, Mamiko Ohara, Tomo Suzuki","doi":"10.1159/000534765","DOIUrl":"10.1159/000534765","url":null,"abstract":"<p><strong>Introduction: </strong>The <i>Kocuria</i> genus, encompassing gram-positive coccoid actinobacteria belonging to the Micrococcaceae family, has recently been discovered residing on the human skin and oral flora. Reports of <i>Kocuria</i>-associated infections in humans have been scarce. Herein, we present the first case of relapsing peritoneal dialysis (PD)-associated peritonitis caused by <i>Kocuria rhizophila</i>.</p><p><strong>Case presentation: </strong>The patient, a 78-year-old male, presented with turbid effluent PD fluid, accompanied by an elevated white blood cell count of 253 cells/μL, of which 59% were neutrophils. A diagnosis of PD-associated peritonitis was established, leading to the initiation of intraperitoneal administration of ceftazidime and vancomycin. Subsequently, <i>Kocuria rhizophila</i> was identified through the bacterial culture of the dialysate. On the seventh day of initial treatment, the antibiotic regimen was changed to penicillin G, and the patient underwent a 3-week course of antibiotics. However, 1 week after discharge, the patient's dialysis fluid became cloudy once again, with subsequent detection of <i>Kocuria rhizophila</i> in the fluid culture. Ultimately, the decision was made to remove the patient's PD catheter and transition to hemodialysis.</p><p><strong>Conclusion: </strong>PD-associated peritonitis attributed to <i>Kocuria species</i> may be considered a potential risk for recurrence.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"10-14"},"PeriodicalIF":0.7,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10764085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139097395","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
Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report. 新型 COL4A4 和 COL4A5 双基因变异导致 X 连锁阿尔波特综合征:病例报告
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2024-01-03 eCollection Date: 2024-01-01 DOI: 10.1159/000535493
Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto
{"title":"Novel Digenic Variants in <i>COL4A4</i> and <i>COL4A5</i> Causing X-Linked Alport Syndrome: A Case Report.","authors":"Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto","doi":"10.1159/000535493","DOIUrl":"10.1159/000535493","url":null,"abstract":"<p><strong>Introduction: </strong>Alport syndrome (AS) is a hereditary, progressive kidney disease characterized by structural abnormalities and dysfunction of the glomerular basement membrane (GBM). AS is classified as X-linked, autosomal, and digenic. The number of cases of digenic AS has increased, but the genotype-phenotype correlation of patient with digenic AS is still unclear. Here, we present a case of digenic AS with novel digenic missense variants in <i>COL4A4</i> (c.827G>C, p.Gly276Ala) and <i>COL4A5</i> (c.4369G>C, p.Gly1457Arg).</p><p><strong>Case presentation: </strong>The patient was a 29-year-old Japanese man suffering from persistent microscopic hematuria and proteinuria without kidney function impairment. Kidney biopsy showed focal interstitial foam cell infiltration, global and segmental glomerulosclerosis. Immunofluorescence staining for collagen IV α5 was almost negative in the GBM and Bowman's capsule. Electron microscopy revealed irregular thickening with lamellation and segmental thinning of the GBM. Clinical and pathological findings were consistent with AS. Comprehensive next-generation sequencing revealed a heterozygous missense variant in <i>COL4A4</i> (c.827G>C, p.Gly276Ala) in exon 1 and a hemizygous missense variant in <i>COL4A5</i> (c.4369G>C, p.Gly1457Arg) in exon 49 on the patient's paternal and maternal alleles, respectively. The same digenic variants were detected in his sister, and she also showed a similar phenotype. After treatment with angiotensin-converting enzyme inhibitors, proteinuria decreased from 2.3 to 1.1 g/g creatinine, but occult blood persisted. During follow-up, kidney function has been preserved.</p><p><strong>Conclusion: </strong>The novel genotype of our case provides more information on the genotype-phenotype correlation of digenic XLAS, although long-term follow-up is required. The findings in the present case also indicate the importance of genetic tests for family members of a patient diagnosed with digenic AS.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"14 1","pages":"1-9"},"PeriodicalIF":0.7,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10764090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139097394","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
The Matter of Kidney Biopsy in Monoclonal Gammopathy of Renal Significance: A Case Report of a New Pattern of Immunoglobulin-Storing Histiocytosis. 肾脏单克隆丙种球蛋白病中的肾活检问题:免疫球蛋白蓄积性组织细胞增生症新模式的病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-12-15 eCollection Date: 2023-01-01 DOI: 10.1159/000533913
Paolo Randone, Manuel Burdese, Antonella Barreca, Stefania Oliva, Enrico Sanna, Isabella Abbasciano, Patrizia Anania, Elena Boaglio, Luigi Biancone
{"title":"The Matter of Kidney Biopsy in Monoclonal Gammopathy of Renal Significance: A Case Report of a New Pattern of Immunoglobulin-Storing Histiocytosis.","authors":"Paolo Randone, Manuel Burdese, Antonella Barreca, Stefania Oliva, Enrico Sanna, Isabella Abbasciano, Patrizia Anania, Elena Boaglio, Luigi Biancone","doi":"10.1159/000533913","DOIUrl":"10.1159/000533913","url":null,"abstract":"<p><p>Monoclonal gammopathy of renal significance (MGRS) represents a group of disorders, characterized by paraproteinemia which causes renal damage. These disorders never meet the diagnostic criteria for multiple myeloma (MM) or lymphoproliferative disease. Crystal-storing histiocytosis is one of the rarest patterns of MGRS, characterized by an accumulation of light chains of crystals within histiocyte's cytoplasm, located in bone marrow or other extramedullary sites such as the kidney, cornea, or thyme. A very few cases have been described as immunoglobulin-storing histiocytosis (IgSH) without evidence of crystals. In the recent literature, only 3 cases of IgSH have been described so far, none renal. In all cases, these very peculiar histopathological patterns are associated with lymphoproliferative or plasma cellular disorders. Here, we report a very unusual IgSH pattern in a kidney biopsy, which led to prompt detection and early therapeutic intervention, in a patient with otherwise misdiagnosed MGRS.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"191-196"},"PeriodicalIF":0.7,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10723809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798026","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
Bone Mineral Parameters in Peritoneal Dialysis Patients after Lowering Calcium Concentration in Dialysis Fluids: A Case Series in Patients Using Icodextrin. 腹膜透析患者在降低透析液中钙浓度后的骨矿物质参数:一系列使用标志性糊精的患者案例。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-11-08 eCollection Date: 2023-01-01 DOI: 10.1159/000534476
Lara C Verschuur, Anouschka G Liefting, Bastiaan van Dam, Erik L Penne, Fenneke C Frerichs
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