Case Reports in Nephrology and Dialysis最新文献

筛选
英文 中文
Conversion from Intermittent Hemodialysis to Peritoneal Dialysis in Metastatic Catheter-Related Bloodstream Infection. 转移性导管相关血流感染从间歇血液透析到腹膜透析的转化
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-08-08 eCollection Date: 2023-01-01 DOI: 10.1159/000531094
Mohamedanwar Ghandour, Ravi K Thimmisetty, James Sondheimer, Nashat Imran, Zeenat Y Bhat, Yahya Mohamed Osman-Malik
{"title":"Conversion from Intermittent Hemodialysis to Peritoneal Dialysis in Metastatic Catheter-Related Bloodstream Infection.","authors":"Mohamedanwar Ghandour, Ravi K Thimmisetty, James Sondheimer, Nashat Imran, Zeenat Y Bhat, Yahya Mohamed Osman-Malik","doi":"10.1159/000531094","DOIUrl":"10.1159/000531094","url":null,"abstract":"<p><p>Of all complications from central venous catheters (CVC) in end-stage renal disease (ESRD) patients, catheter-related bloodstream infection (CRBSI) is one of the most devastating consequences. The option of catheter salvage is not an effective measure with metastatic infections. However, in patients with severe vasculopathy and/or near end-stage vascular disease, preservation of the venous access should be given utmost importance as the luxury of utilizing another vascular site is markedly limited. Providing adequate renal replacement therapy in this group of patients can be remarkably challenging for nephrologists. We are presenting an ESRD patient with advanced vascular disease who developed metastatic CRBSI with worsening uremia who was successfully converted from intermittent hemodialysis (IHD) to peritoneal dialysis (PD). Our rationale was to minimize repeated intravascular procedures coupled with the presence of another intravascular device. This has led to a complete resolution of persistent bacteremia, with a steady improvement in the uremic state. Conversion from IHD to PD for persistent bacteremia with metastatic complications was seldom addressed in literature. In the absence of a significant contraindication to PD, it can be considered as a valid alternative possibility in order to interrupt this viscous cycle, especially in vasculopathic patients.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":" ","pages":"97-103"},"PeriodicalIF":0.7,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44076246","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
Chryseobacterium indologenes Peritonitis in a Peritoneal Dialysis Patient: A Case Report and Review of Literature. 腹膜透析患者伴产黄杆菌腹膜炎1例报告及文献复习
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-08-04 eCollection Date: 2023-01-01 DOI: 10.1159/000531154
Akira Miyakawa, Kentaro Fujii, Ai Kato, Wataru Sugi, Ayumi Yoshifuji, Motoaki Komatsu, Munekazu Ryuzaki
{"title":"<i>Chryseobacterium indologenes</i> Peritonitis in a Peritoneal Dialysis Patient: A Case Report and Review of Literature.","authors":"Akira Miyakawa, Kentaro Fujii, Ai Kato, Wataru Sugi, Ayumi Yoshifuji, Motoaki Komatsu, Munekazu Ryuzaki","doi":"10.1159/000531154","DOIUrl":"10.1159/000531154","url":null,"abstract":"<p><p>Peritonitis is one of the most important complications in patients with peritoneal dialysis (PD). Appropriate antibiotic treatment against PD-associated peritonitis is necessary to prevent PD catheter removal and withdrawal from PD. <i>Chryseobacterium indologenes</i> is a Gram-negative rod that occurs in the natural environment. <i>C. indologenes</i> is thought to acquire resistance to β-lactam drugs through the production of metallo-β-lactamase and to become resistant to antibiotic therapy through the formation of biofilms. Only a few cases of PD-associated peritonitis caused by <i>C. indologenes</i> have been reported to date, and appropriate treatment strategies have not been clarified. In the past, 5 cases of PD-associated peritonitis caused by <i>C. indologenes</i> have been reported and 2 patients required catheter removal because of recurrence or refractoriness. In this case, a 51-year-old man with PD-associated peritonitis caused by <i>C. indologenes</i> was treated with 2 susceptible antibiotics, including fluoroquinolones to prevent acquired resistance and biofilm formation. There was no recurrence, and catheter removal was not necessary in this case. Collectively, the present case highlighted that PD-associated peritonitis caused by <i>C. indologenes</i> should be treated with 2 susceptible antibiotics including fluoroquinolones for 3 weeks.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":" ","pages":"90-96"},"PeriodicalIF":0.7,"publicationDate":"2023-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44580686","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
Severe Clozapine Poisoning Treated by Extracorporeal Blood Purification Therapy. 体外血液净化治疗重度氯氮平中毒
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-07-27 eCollection Date: 2023-01-01 DOI: 10.1159/000531130
Andreas Hartjes, Matthäus Machnik, Christa Kubasta, Karl Schrattbauer
{"title":"Severe Clozapine Poisoning Treated by Extracorporeal Blood Purification Therapy.","authors":"Andreas Hartjes,&nbsp;Matthäus Machnik,&nbsp;Christa Kubasta,&nbsp;Karl Schrattbauer","doi":"10.1159/000531130","DOIUrl":"10.1159/000531130","url":null,"abstract":"<p><p>Clozapine is a frequently used antipsychotic that, in case of overdose, can cause severe adverse side effects, such as hematological, cardiovascular, and neurological complications. As there is no specific antidote or reversal agent available, extracorporeal techniques such as CytoSorb hemoadsorption might represent a viable option, having already been used in a variety of intoxication scenarios with favorable rates of success. A 56-year-old male was admitted with generalized epileptic seizures and arrhythmias following ingestion of clozapine in a suicide attempt (5,000 mg). Subsequently, conventional supportive care was initiated. To accelerate drug removal, continuous veno-venous hemodiafiltration including the application of CytoSorb hemoadsorption therapy was started. Serial measurements confirmed rapid reduction of clozapine plasma levels. The patient remained hemodynamically stable throughout this period. Furthermore, there were no cardiac arrhythmias detected and liver values were normal. The patient improved and was successfully extubated 3 days after admission with good vigilance and no residual neurological abnormalities. This is the first clinical case report on the use of CytoSorb hemoadsorption in severe clozapine intoxication which helped quickly and efficiently reduce clozapine levels to nontoxic serum levels while preserving organ function. Therefore, CytoSorb might represent an alternative treatment modality to be considered for potentially lethal clozapine intoxications.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":" ","pages":"84-89"},"PeriodicalIF":0.7,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47933362","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
Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report. 用环磷酰胺治疗严重隐性萎缩性表皮松解症儿童的肾病:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-07-14 eCollection Date: 2023-01-01 DOI: 10.1159/000530875
Cahyani Gita Ambarsari, Retno Palupi-Baroto, Fira Alyssa Gabriella Sinuraya, Elvi Suryati, Etty Widyastuti, Suci Widhiati
{"title":"Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report.","authors":"Cahyani Gita Ambarsari, Retno Palupi-Baroto, Fira Alyssa Gabriella Sinuraya, Elvi Suryati, Etty Widyastuti, Suci Widhiati","doi":"10.1159/000530875","DOIUrl":"10.1159/000530875","url":null,"abstract":"<p><p>Long-term inflammation and recurrent skin infection in recessive dystrophic epidermolysis bullosa (RDEB) are associated with the presence of immunoglobulin A (IgA)-containing immune complexes in the glomerulus. Only eight pediatric RDEB cases with IgA nephropathy (IgAN) have been documented in English-language literature. Most RDEB patients with IgAN progress to kidney failure within 5 years of diagnosis, indicating that these patients may require more intensive early treatment compared to those with primary IgAN. However, diagnosing IgAN in RDEB cases with severe cutaneous manifestations can be challenging. Herein, we report a rare case of nephropathy in an 11-year-old boy with severe RDEB and a frameshift mutation on the <i>COL7A1</i> gene, which may manifest as kidney disorders. He presented with persistent hematuria and progressing proteinuria. A presumptive IgAN diagnosis was based on clinical features and increased IgA serum levels, as kidney biopsy was refused by his parents. Nephrotic-range proteinuria persisted despite initial steroid and lisinopril treatment. Monthly intravenous cyclophosphamide (IV CPA; 500 mg/m<sup>2</sup>) led to proteinuria remission and preservation of kidney function for 2 years posttreatment. We conclude that <i>COL7A1</i> mutations may result in extracutaneous manifestations, including kidney disorders. The association between IgA-containing immune complex deposits in the glomerulus and recurrent skin infection in RDEB may indicate IgAN, particularly when kidney biopsy is infeasible due to severe skin manifestations. In our case, positive results with IV CPA suggest further investigation is needed to explore its potential role in non-rapidly progressing IgAN in children with RDEB.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"75-83"},"PeriodicalIF":0.7,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/94/a2/cnd-2023-0013-0001-530875.PMC10359707.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10241546","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
Single-Dose Pharmacokinetics and Total Removal of Cyclophosphamide in a Patient with Acute Kidney Injury Undergoing Intermittent Haemodialysis and Prolonged Intermittent Kidney Replacement Therapy: A Case Report. 接受间歇性血液透析和长期间歇性肾脏替代疗法的急性肾损伤患者的单剂量药代动力学和环磷酰胺总清除率:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-07-13 eCollection Date: 2023-01-01 DOI: 10.1159/000531129
Catherina Lück, Gernot Beutel, W Nikolaus Kühn-Velten, Jan T Kielstein
{"title":"Single-Dose Pharmacokinetics and Total Removal of Cyclophosphamide in a Patient with Acute Kidney Injury Undergoing Intermittent Haemodialysis and Prolonged Intermittent Kidney Replacement Therapy: A Case Report.","authors":"Catherina Lück, Gernot Beutel, W Nikolaus Kühn-Velten, Jan T Kielstein","doi":"10.1159/000531129","DOIUrl":"10.1159/000531129","url":null,"abstract":"<p><p>The largest study on cyclophosphamide pharmacokinetics in dialysis patients comprises of 6 subjects. In the 2 decades since these data were obtained, dialyser membranes, treatment intensities, and treatment duration have changed considerably making new pharmacokinetic studies desirable. We aimed to readdress the pharmacokinetics of cyclophosphamide in a 74-year-old critically ill male suffering from ANCA-associated vasculitis. Due to an acute-on-chronic kidney injury, he underwent intermittent (IHD) and prolonged intermittent kidney replacement therapy (PIKRT). IHD was started 7 h after end of a cyclophosphamide infusion with a blood/dialysate flow of 300 mL/min for 255 min, followed by PIKRT with a blood/dialysate flow of 140 mL/min for 540 min, both using a 1.3 m<sup>2</sup> polysulphone high-flux dialyser (F60S, Fresenius Medical Care). Peak concentration of cyclophosphamide was 20.2 mg/L. Using IHD and PIKRT serum concentration of cyclophosphamide decreased to 1.2 mg/L after IHD and to <0.1 mg/L after PIKRT with dialyser-clearances of 153.0 mL/min and 84.9 mL/min, respectively. Total recovery of cyclophosphamide, calculated from the collected dialysate, was 57.5 mg (7.7% of administered dose) for IHD and was 8.3 mg (1.1% of administered dose) for PIKRT. By using IHD with a high-flux dialyser cyclophosphamide could be eliminated. Remaining cyclophosphamide should be eliminated by PIKRT. Hence, even in the absence of renal function a dose >50% of the recommended for patient with normal renal function may be applied, as complete elimination of the parent drug by modern dialysis is feasible.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"70-74"},"PeriodicalIF":0.7,"publicationDate":"2023-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/06/5f/cnd-2023-0013-0001-531129.PMC10359690.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9864376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case Report of Kidney-Only Transplantation in Primary Hyperoxaluria Type 1: A Novel Approach with the Use of Nedosiran. 原发性高草酸尿症 1 型的纯肾移植病例报告:使用尼多西兰的新方法
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-07-07 eCollection Date: 2023-01-01 DOI: 10.1159/000531053
Matthew C Breeggemann, Stephen L Gluck, Marshall L Stoller, Marsha M Lee
{"title":"A Case Report of Kidney-Only Transplantation in Primary Hyperoxaluria Type 1: A Novel Approach with the Use of Nedosiran.","authors":"Matthew C Breeggemann, Stephen L Gluck, Marshall L Stoller, Marsha M Lee","doi":"10.1159/000531053","DOIUrl":"10.1159/000531053","url":null,"abstract":"<p><p>The primary hyperoxalurias (PHs) are a group of diseases characterized by kidney stones, nephrocalcinosis, and chronic kidney disease. At stages of advanced kidney disease, glomerular filtration of oxalate becomes insufficient, plasma levels increase, and tissue deposition may occur. Hemodialysis is often unable to overcome the excess hepatic oxalate production. The current surgical management of primary hyperoxaluria type 1 (PH1) is combined liver kidney transplantation. In a subset of PH1 patients who respond to pyridoxine, kidney-only transplantation has been successfully performed. Recently, kidney-only transplantation has also been performed in PH1 patients receiving a small interfering RNA therapy called lumasiran. This drug targets the hepatic overproduction of oxalate, making kidney-only transplantation a potentially practical novel approach for managing PH1 patients with advanced kidney disease. It is unknown if similar effects could be seen with a different small interfering RNA agent called nedosiran. This article will briefly review PH1, describe the small interfering RNA therapies being used to treat PH, summarize the reported cases of kidney-only transplantation performed with lumasiran, and detail a case of kidney-only transplantation performed in a PH1 patient receiving nedosiran.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"63-69"},"PeriodicalIF":0.7,"publicationDate":"2023-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d6/d7/cnd-2023-0013-0001-531053.PMC10368091.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9883068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case of Multicystic Dysplastic Kidney Presenting as a Single Midline Pelvic Cyst. 一例表现为单一中线盆腔囊肿的多囊性肾脏发育不良病例
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-07-04 eCollection Date: 2023-01-01 DOI: 10.1159/000530925
Kristin M Ebert, Christina B Ching
{"title":"A Case of Multicystic Dysplastic Kidney Presenting as a Single Midline Pelvic Cyst.","authors":"Kristin M Ebert, Christina B Ching","doi":"10.1159/000530925","DOIUrl":"10.1159/000530925","url":null,"abstract":"<p><p>We present an unusual case of a female neonate presenting with a single midline pelvic cyst. Prenatal imaging was suggestive of multicystic dysplastic kidney (MCDK), but postnatal imaging was atypical for this diagnosis given the location and singular cyst noted. The patient ultimately underwent surgical exploration and was diagnosed with an ectopic MCDK. Ectopic MCDK should be considered in the differential diagnosis of unilocular cystic pelvic lesions identified in the perinatal period.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"57-62"},"PeriodicalIF":0.7,"publicationDate":"2023-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e3/93/cnd-2023-0013-0001-530925.PMC10359676.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10241543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recurrent Hyponatremia in the Setting of Autoimmune Disease with Sicca Syndrome: A Case Report. 伴有矽卡综合征的自身免疫性疾病引起的复发性低钠血症:病例报告。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-06-21 eCollection Date: 2023-01-01 DOI: 10.1159/000530491
Ahmad El-Moussa, Syed Umer Mohsin, Omer Alrawi, Obead Yaseen, Yahya Osman Malik
{"title":"Recurrent Hyponatremia in the Setting of Autoimmune Disease with Sicca Syndrome: A Case Report.","authors":"Ahmad El-Moussa, Syed Umer Mohsin, Omer Alrawi, Obead Yaseen, Yahya Osman Malik","doi":"10.1159/000530491","DOIUrl":"10.1159/000530491","url":null,"abstract":"<p><p>Sjogren's syndrome is an autoimmune disease associated with xerostomia and xerophthalmia. The association of Sjogren's with hyponatremia has rarely been reported and has been attributed to syndrome of inappropriate antidiuretic hormone secretion. Here, we report a case of polydipsia secondary to xerostomia as a cause of chronic hyponatremia in the setting of Sjogren's syndrome. Analysis of the patient's medical record, including medication reconciliation and dietary habits, revealed several underlying causes of her recurrent hyponatremia. A thorough review of the patient's clinical history and good bedside examination may reduce prolonged hospitalizations and improve the quality of life of a hyponatremic population of patients who are predominantly elderly.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"45-50"},"PeriodicalIF":0.7,"publicationDate":"2023-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096888","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
Acquired Perforating Dermatosis as a Paraneoplastic Feature: A Case Report, Literature Review, and Novel Association. 作为一种副肿瘤特征的获得性穿孔性皮肤病:病例报告、文献综述和新关联。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-06-20 eCollection Date: 2023-01-01 DOI: 10.1159/000530756
Nashat Imran
{"title":"Acquired Perforating Dermatosis as a Paraneoplastic Feature: A Case Report, Literature Review, and Novel Association.","authors":"Nashat Imran","doi":"10.1159/000530756","DOIUrl":"10.1159/000530756","url":null,"abstract":"<p><p>Kyrle's disease is an uncommon form of acquired transepidermal elimination dermatosis frequently associated with diabetes mellitus and chronic kidney disease. An association with malignancy has been sporadically reported in the literature. Here, we describe the clinical course of a diabetic patient with end-stage renal disease who developed this disorder as a herald to a regionally advanced renal cell carcinoma. We provide a focused literature review and rationale for the definitive categorization of acquired perforating dermatosis as a potential paraneoplastic manifestation of systemic malignancies. Clinicopathological correlation and prompt communication among clinicians for occult malignancies are always warranted. Furthermore, we describe a novel association of one of the subtypes of acquired perforating dermatosis with such malignancies.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"36-44"},"PeriodicalIF":0.7,"publicationDate":"2023-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9792484","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
Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature. 由 CUBN 基因突变引起的孤立性蛋白尿:病例报告和文献综述。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-05-26 eCollection Date: 2023-01-01 DOI: 10.1159/000530466
Jingyang Ran, Qingsong Chen, Yudong Hu, Pengfei Yang, Guiquan Yu, Xiaohui Liao, Jianrong Lei
{"title":"Isolated Proteinuria Caused by <i>CUBN</i> Gene Mutations: A Case Report and Review of the Literature.","authors":"Jingyang Ran, Qingsong Chen, Yudong Hu, Pengfei Yang, Guiquan Yu, Xiaohui Liao, Jianrong Lei","doi":"10.1159/000530466","DOIUrl":"10.1159/000530466","url":null,"abstract":"<p><p>Mutations in the cubilin (<i>CUBN</i>) gene commonly cause Imerslund-Gräsbeck syndrome, while isolated proteinuria as a result of <i>CUBN</i> variations is rarely reported. The clinical manifestation is mainly chronic isolated proteinuria in the non-nephrotic range. However, findings to date suggest that isolated proteinuria associated with abnormalities in the <i>CUBN</i> gene is benign and does not affect long-term prognosis of kidney function. We identified 2 patients with isolated proteinuria triggered by compound heterozygous <i>CUBN</i> mutations. Renal functions of both patients remained normal over a 10-year follow-up period, supporting the benign nature of proteinuria caused by <i>CUBN</i> gene variations. Two novel mutation sites were detected, expanding the genotypic spectrum of <i>CUBN</i> variations. In addition, etiology, pathogenesis, clinical manifestations, auxiliary examination, and treatment of the condition were reviewed, with the aim of providing further guidance for clinical management.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"27-35"},"PeriodicalIF":0.7,"publicationDate":"2023-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10293958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9737760","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信