Case Reports in Nephrology and Dialysis最新文献_第4页

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Case Reports in Nephrology and Dialysis Pub Date : 2023-09-20 eCollection Date: 2023-01-01 DOI: 10.1159/000533581

Preslava M Hristova, Alexandra S Alexandrova, Martin Lucanov, Hristina Y Hitkova, Biser Kirilov Borisov

{"title":"Catheter-Related Bloodstream Infection in Hemodialysis Patient due to Atlantibacter hermannii.","authors":"Preslava M Hristova, Alexandra S Alexandrova, Martin Lucanov, Hristina Y Hitkova, Biser Kirilov Borisov","doi":"10.1159/000533581","DOIUrl":"10.1159/000533581","url":null,"abstract":"Atlantibacter hermannii, previously known as Escherichia hermannii, is a rare causative agent of human infections. Several reports testify that the most frequently infected patients are immunosuppressed, especially those undergoing hemodialysis. A 34-year-old man with an end-stage renal disease complained of chills, fever, and general fatigue at the end of a regular hemodialysis session. The echocardiographic examination showed vegetation located on the dialysis catheter in the right atrium. Empirical therapy was initiated with intravenous gentamicin, and after the isolation of the agent, the treatment was continued with intravenous imipenem/cilastatin. The blood cultures and the tip of the replaced catheter were positive for A. hermannii, identified by Vitek 2 Compact. Verification of the automated identification was performed using 16S sequencing. The 16S sequence product was used to query the NCBI bacterial database and revealed 99.75% identity to that of A. hermannii strain CIP 103176 16S ribosomal RNA in the NCBI GenBank database. The antimicrobial susceptibility results revealed resistance to aminopenicillins and susceptibility to all other tested antimicrobials. To our knowledge, this is the first report of catheter-related vegetation with echocardiographic confirmation and the successful eradication of A. hermannii infection in a patient undergoing hemodialysis with imipenem/cilastatin.","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"142-147"},"PeriodicalIF":0.7,"publicationDate":"2023-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410750","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

First Reported Case of a Pyrophosphate Kidney Stone in a Human. 首次报告的人类焦磷酸盐肾结石病例。

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Case Reports in Nephrology and Dialysis Pub Date : 2023-09-18 eCollection Date: 2023-01-01 DOI: 10.1159/000533442

Michael R Gigax, Lee Yang, Glenn Austin, Neil S Mandel, Jody P Lulich, John R Asplin

{"title":"First Reported Case of a Pyrophosphate Kidney Stone in a Human.","authors":"Michael R Gigax, Lee Yang, Glenn Austin, Neil S Mandel, Jody P Lulich, John R Asplin","doi":"10.1159/000533442","DOIUrl":"10.1159/000533442","url":null,"abstract":"Urolithiasis composed of pyrophosphate salts has only been reported in animals, in the form of potassium magnesium pyrophosphate. However, there have been no reports of pyrophosphate stones in humans. Hypophosphatasia is an inherited disease characterized by low alkaline phosphatase activity and elevated levels of pyrophosphate in blood and urine. Urolithiasis is a part of the hypophosphatasia phenotype. The role of elevated urine pyrophosphate levels in the formation of stones in hypophosphatasia is unknown. Here, we report a case of a 60-year-old man with recurrent urolithiasis. The patient's most recent presentation was gross hematuria and his computed tomography scan showed bilateral kidney stones. Stones were removed via retrograde intrarenal surgery. Stone analysis revealed a composition of potassium magnesium pyrophosphate. The patient also has a long history of fracturing bone disease which led to the consideration of hypophosphatasia as the cause of both his bone disease and pyrophosphate stones. Hypophosphatasia was confirmed by genetic analysis. Pyrophosphate has been of interest in the fields of mineral metabolism because of its action as a crystallization inhibitor. However, pyrophosphate at elevated concentrations in the presence of divalent cations can exceed its solubility. Nephrocalcinosis and stone disease have been described in hypophosphatasia; stones have been assumed to be calcium phosphate but no compositional analysis has been reported. This is the first report of human stones composed of pyrophosphate salts, which led to the subsequent diagnosis of hypophosphatasia in this patient.","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"135-141"},"PeriodicalIF":0.7,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410751","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 Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report. 一个中国IgA肾病家族中UMOD的新突变：一例报告。

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Case Reports in Nephrology and Dialysis Pub Date : 2023-08-17 eCollection Date: 2023-01-01 DOI: 10.1159/000531891

Furong Li, Huan Zou, Li Liu, Tangli Xiao, Bo Zhang, Jun Zhang

引用次数: 0

Campylobacter Colitis as a Trigger for Atypical Hemolytic Uremic Syndrome: About One Case. 弯曲杆菌性结肠炎引发非典型溶血性尿毒症综合征:约一例

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Case Reports in Nephrology and Dialysis Pub Date : 2023-08-14 eCollection Date: 2023-01-01 DOI: 10.1159/000529941

Thomas Quinaux, Zead Tubail, Isabelle Vrillon, Hervé Sartelet, Benjamin Savenkoff

{"title":"Campylobacter Colitis as a Trigger for Atypical Hemolytic Uremic Syndrome: About One Case.","authors":"Thomas Quinaux, Zead Tubail, Isabelle Vrillon, Hervé Sartelet, Benjamin Savenkoff","doi":"10.1159/000529941","DOIUrl":"10.1159/000529941","url":null,"abstract":"We present the case of a 17-year-old Caucasian male whose condition featured acute renal failure, anemia, and deep thrombocytopenia after five consecutive days of diarrhea. Campylobacter coli was identified in stool cultures and, although the direct role of this germ in the pathogenesis of hemolytic uremic syndrome (HUS) remains uncertain to this day, initial presentation was considered broadly consistent with typical HUS. However, the patient showed no signs of spontaneous recovery over time. While secondary investigations showed no abnormalities in ADAMTS13 activity or in the alternate pathway of complement, patient's condition deteriorated. Worsening kidney failure required emergency renal replacement therapy and was followed by cardiac involvement in the form of acute heart failure. Given this unfavorable development, blood samples were drawn to look for mutations in the alternate complement pathway, and eculizumab therapy was initiated without further delay, allowing prompt improvement of cardiac function and recovery of diuresis. Upon discharge, the patient still had to undergo intermittent dialysis, which would later be withdrawn. Genetic analysis ultimately confirmed the presence of a complement factor H mutation associated with a high risk of disease recurrence, indicating long-term continuation of eculizumab therapy.","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"1 1","pages":"113-119"},"PeriodicalIF":0.7,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42746366","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 Mesangial Proliferative Nephritis Caused by Slow Cryoglobulin. 慢冷球蛋白致系膜增生性肾炎1例

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Case Reports in Nephrology and Dialysis Pub Date : 2023-08-14 eCollection Date: 2023-01-01 DOI: 10.1159/000531736

Seiji Hashimoto, Nobuhiko Okamoto, Tomochika Maoka, Rie Yamamoto, Shinichi Araki, Akira Suzuki, Yuichiro Fukasawa, Takao Koike

{"title":"A Case of Mesangial Proliferative Nephritis Caused by Slow Cryoglobulin.","authors":"Seiji Hashimoto, Nobuhiko Okamoto, Tomochika Maoka, Rie Yamamoto, Shinichi Araki, Akira Suzuki, Yuichiro Fukasawa, Takao Koike","doi":"10.1159/000531736","DOIUrl":"10.1159/000531736","url":null,"abstract":"The patient was a woman in her 60s. She was found to have proteinuria on a health checkup. She did not have any particular subjective symptoms, and no definitive diagnosis was made, despite serological findings indicative of immune abnormalities. A renal biopsy was performed. Light microscopy of renal tissue section revealed mesangial proliferative nephritis. Electron microscopic findings included electron-dense deposits and fibrillar/tubular structures with a diameter of 20-30 nm. These findings suggested the presence of cryoglobulin (CG), but CG was not detected in qualitative or quantitative hematologic tests. Thus, the serum samples were stored at 37°C for a long period of time and then cooled to 4°C. When the obtained precipitates were examined, CG was successfully detected. CG that precipitates only after a long period of time is referred to as slow cryoglobulin (sCG), and sCG is extremely rare. The present case is the first documented case, to our knowledge, of renal disorders caused by sCG. It should be noted that there are some cases in which it takes much time for CG to precipitate. Thus, when CG cannot be detected, it is necessary to spend much time to determine whether CG precipitates.","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":" ","pages":"120-128"},"PeriodicalIF":0.7,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48119788","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 Rapidly Progressive Diabetic Nephropathy Induced by Osimertinib. 奥西替尼致快速进展型糖尿病肾病1例

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Case Reports in Nephrology and Dialysis Pub Date : 2023-08-08 eCollection Date: 2023-01-01 DOI: 10.1159/000531015

Kazunori Karasawa, Ken-Ichi Akiyama, Taro Akihisa, Yoei Miyabe, Kosaku Nitta, Junichi Hoshino

{"title":"A Case of Rapidly Progressive Diabetic Nephropathy Induced by Osimertinib.","authors":"Kazunori Karasawa, Ken-Ichi Akiyama, Taro Akihisa, Yoei Miyabe, Kosaku Nitta, Junichi Hoshino","doi":"10.1159/000531015","DOIUrl":"10.1159/000531015","url":null,"abstract":"The number of patients with diabetic nephropathy is increasing worldwide and it is important to understand the underlying pathological mechanisms of the disease. In early stage diabetic nephropathy, the hyperglycemic environment leads to vascular endothelial cell damage, resulting in overexpression of vascular endothelial growth factor (VEGF) in podocytes and renal pathology of glomerular hypertrophy, glomerular basement membrane thickening, and mesangial hyperplasia. In diabetic nephropathy, renal thrombotic microangiopathy (TMA) develops and the nephropathy progressively worsens in some cases of severe glomerular podocyte damage. Further, receptor tyrosine kinase inhibitors (RTKIs) may suppress VEGF secretion via VEGF receptor-2 tyrosine kinase inhibition in podocytes, which results in renal TMA and rapid deterioration of diabetic nephropathy. Osimertinib, a third-generation irreversible epidermal growth factor receptor (EGFR)-TKI, is approved as a first-line treatment agent for metastatic or locally advanced EGFR mutation-positive non-small cell lung cancer. We encountered a case of a patient with diabetic nephropathy with lung adenocarcinoma treated with osimertinib, whose condition deteriorated from early nephropathy to end-stage renal disease in approximately 4 months. The patient had early diabetic nephropathy, but the use of a RTKI suppressed VEGF expression in podocytes, resulting in the induction of renal TMA and the development of rapidly progressive diabetic nephropathy.","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":" ","pages":"104-112"},"PeriodicalIF":0.7,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47695228","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

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

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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":"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.","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

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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":"Chryseobacterium indologenes 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":"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. Chryseobacterium indologenes is a Gram-negative rod that occurs in the natural environment. C. indologenes 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 C. indologenes have been reported to date, and appropriate treatment strategies have not been clarified. In the past, 5 cases of PD-associated peritonitis caused by C. indologenes 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 C. indologenes 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 C. indologenes should be treated with 2 susceptible antibiotics including fluoroquinolones for 3 weeks.","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

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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, Matthäus Machnik, Christa Kubasta, Karl Schrattbauer","doi":"10.1159/000531130","DOIUrl":"10.1159/000531130","url":null,"abstract":"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.","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。

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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":"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 COL7A1 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/m2) led to proteinuria remission and preservation of kidney function for 2 years posttreatment. We conclude that COL7A1 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.","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