Case Reports in Nephrology and Dialysis最新文献

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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
Success of Pregnancy in a Patient on High-Volume Hemodiafiltration with Citrate-Acidified Dialysate. 柠檬酸酸化透析液大容量血液滤过患者妊娠成功。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-03-31 eCollection Date: 2023-01-01 DOI: 10.1159/000528725
Gaëlle Pellé, Arwa Jalal Eddine, Philippe Rieu, Julie Attias, Stephanie Fay, Alexandre Hertig
{"title":"Success of Pregnancy in a Patient on High-Volume Hemodiafiltration with Citrate-Acidified Dialysate.","authors":"Gaëlle Pellé, Arwa Jalal Eddine, Philippe Rieu, Julie Attias, Stephanie Fay, Alexandre Hertig","doi":"10.1159/000528725","DOIUrl":"10.1159/000528725","url":null,"abstract":"<p><p>Although pregnancy in dialysis patients is rare, recent reports in the literature have shown improvement in pregnancy outcome in this population. Increasing doses of dialysis have led to improvement in fetal prognosis, but recommendations are still lacking, and there are few documented reports of pregnant woman on high-volume online hemodiafiltration. Here, we report the first successful pregnancy in a 28-year-old patient on daily high-volume online post-dilution hemodiafiltration with a citrate dialysate. At 37 weeks and 1 day, she delivered a healthy 2.3 kg baby that did not require neonatal intensive care. This case report suggests that hemodiafiltration with a dialysate acidified with citrate is safe in pregnancy. Further reports and a registry are necessary to confirm that high-volume online hemodiafiltration with a citrate dialysate should be the preferred dialysis modality in pregnant women.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"15-19"},"PeriodicalIF":0.7,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10066502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9247201","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 Neurological Involvement in an Adult with Shiga Toxin-Producing Escherichia coli-Hemolytic Uremic Syndrome Treated with Eculizumab. 一名成年志贺毒素产生型大肠埃希菌溶血性尿毒症患者在接受 Eculizumab 治疗后出现严重神经系统受累。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-01-27 eCollection Date: 2023-01-01 DOI: 10.1159/000528893
Pauline Vanesse, Hélène Georgery, Thierry Duprez, Ludovic Gérard, Christine Collienne, Alexia Verroken, Florence Crombé, Johann Morelle, Philippe Hantson
{"title":"Severe Neurological Involvement in an Adult with Shiga Toxin-Producing <i>Escherichia coli</i>-Hemolytic Uremic Syndrome Treated with Eculizumab.","authors":"Pauline Vanesse, Hélène Georgery, Thierry Duprez, Ludovic Gérard, Christine Collienne, Alexia Verroken, Florence Crombé, Johann Morelle, Philippe Hantson","doi":"10.1159/000528893","DOIUrl":"10.1159/000528893","url":null,"abstract":"<p><p>A 68-year-old man with a medical history of hypertension was admitted to the emergency department for diffuse abdominal pain preceded by bloody diarrhea. Upon admission, neurological examination was normal, but he suddenly developed a left-sided hemiparesis. After a normal brain computed tomography, intravenous thrombolysis was administered for a suspicion of ischemic stroke. In the first laboratory investigations, hemoglobin was 16.9 g/dL, platelets 121 × 10<sup>9</sup>/L (150-450), and serum creatinine 1.17 mg/dL. By the second hospital day, the platelet level dropped to 79 × 10<sup>9</sup>/L, with haptoglobin at 0.12 g/L, 3% schistocytes, and normal ADAMTS13 activity (57%). Serum creatinine increased to 1.84 mg/dL with oliguria. The suspicion of thrombotic microangiopathy was supported by the identification of Shiga toxin genes <i>stx</i>1 and <i>stx</i>2 on a rectal swab and the isolation of an <i>eae</i>A-negative Shiga toxin-producing <i>E. coli</i> O113:H4. The patient presented a generalized tonic-clonic seizure, and orotracheal intubation was required for decreased consciousness. Plasma exchange therapy was started, and eculizumab was given 6 days after symptoms onset. Brain magnetic resonance imaging (MRI) on day 13 showed symmetric hyperintensities within basal ganglia that disappeared on a second MRI on day 37. At 2-month follow-up, the patient had made a complete neurological and renal recovery and eculizumab therapy was stopped.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"7-14"},"PeriodicalIF":0.7,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c0/2e/cnd-2023-0013-0001-528893.PMC9891842.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9229270","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-Time Use of the Seraph® 100 Microbind® Affinity Blood Filter in an Adolescent Patient with Severe COVID-19 Disease: A Case Report. 首次使用Seraph®100 Microbind®亲和血液过滤器治疗青少年重症COVID-19患者1例报告
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-01-27 eCollection Date: 2023-01-01 DOI: 10.1159/000527290
Kyle A Merrill, Kelli A Krallman, Daniel Loeb, Stephen W Standage, Dawn Mattoon, Dandan Shan, Stuart L Goldstein, Meredith P Schuh
{"title":"First-Time Use of the Seraph<sup>®</sup> 100 Microbind<sup>®</sup> Affinity Blood Filter in an Adolescent Patient with Severe COVID-19 Disease: A Case Report.","authors":"Kyle A Merrill, Kelli A Krallman, Daniel Loeb, Stephen W Standage, Dawn Mattoon, Dandan Shan, Stuart L Goldstein, Meredith P Schuh","doi":"10.1159/000527290","DOIUrl":"10.1159/000527290","url":null,"abstract":"<p><p>The Seraph<sup>®</sup> 100 Microbind<sup>®</sup> Affinity Blood Filter (Seraph<sup>®</sup> 100) is a hemoperfusion device designed to adsorb bacteria, viruses, and toxins when added to extracorporeal circuits. The FDA granted emergency use authorization in adults, but this device had never been utilized in children. A 17-year-old patient with asthma presented with respiratory distress due to COVID-19. His course was complicated by respiratory failure, rhabdomyolysis, and stage 3 AKI requiring initiation of continuous kidney replacement therapy (CKRT) on ICU day 3. The Seraph<sup>®</sup> 100 filter was added on ICU day 4. He was treated with 3 filters from ICU day 4 to 8. On ICU day 8, he was extubated and CKRT discontinued. He required no further kidney replacement therapy but did not have laboratory work post-discharge. In conclusion, this adolescent patient with COVID-19 and AKI requiring CKRT tolerated treatment with the Seraph<sup>®</sup> 100 Microbind<sup>®</sup> Affinity Blood Filter without significant adverse events.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"1-6"},"PeriodicalIF":0.7,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ab/3d/cnd-2023-0013-0001-527290.PMC9891843.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10666423","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: 1
Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders). 14岁男孩(myh9相关疾病)血小板减少和肾功能衰竭的不寻常原因。
IF 0.7
Case Reports in Nephrology and Dialysis Pub Date : 2023-01-01 DOI: 10.1159/000529660
Karol Granak, Miroslava Brndiarova, Matej Vnucak, Ivana Plamenova, Regina Behulova Lohajova, Romana Valencikova, Milos Jesenak, Ivana Dedinska
{"title":"Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders).","authors":"Karol Granak,&nbsp;Miroslava Brndiarova,&nbsp;Matej Vnucak,&nbsp;Ivana Plamenova,&nbsp;Regina Behulova Lohajova,&nbsp;Romana Valencikova,&nbsp;Milos Jesenak,&nbsp;Ivana Dedinska","doi":"10.1159/000529660","DOIUrl":"https://doi.org/10.1159/000529660","url":null,"abstract":"<p><p>MYH9-associated disorders represent rare group of autosomal dominant diseases and are caused by pathogenic mutations in the <i>MYH9</i> gene. Clinically, they are represented by macro-platelet-thrombocytopenia, various degrees of renal dysfunction, hearing loss, and early onset cataracts. We describe the case of 14-year-old boy in medical follow-up from birth for thrombocytopenia. Systolic hypertension and nephrotic proteinuria were detected at preventive health check. Renal biopsy revealed sing of segmental glomerulosclerosis. Dialysis treatment was needed. Before transplantation due to the finding of chronic tonsillitis with positive bacterial capture in the culture examination, tonsillectomy was indicated. Postoperative period was complicated with arterial post-tonsillectomy hemorrhage. Six months after tonsillectomy, the patient underwent primary deceased-donor kidney transplantation without complication. Blood platelets showed fluctuating character in the zone of severe thrombocytopenia. However, no signs of bleeding were present. Three months after successful transplantation gene sequencing of whole exon was performed. The presence of the variant c.2105G>A [p.(Arg702HIS)] in exon 17 of the <i>MYH9</i> gene has been detected. The variant c.2105G>A may be clinically manifested by progressive proteinuria with rapid deterioration of renal function. This case is an example of the delayed diagnosis of rare disease and highlights the usefulness of genetic testing.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"20-26"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10186230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9544941","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
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