Case Reports in Nephrology and Dialysis最新文献

{"title":"Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report.","authors":"Mohammad Khaled Alsultan,&nbsp;Zeina Nizar Bdeir,&nbsp;Qussai Hassan,&nbsp;Tahani Ali","doi":"10.1159/000520794","DOIUrl":"https://doi.org/10.1159/000520794","url":null,"abstract":"<p><p>Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). Von willebrand disease (VWD) type III is a rare subtype of von willebrand factor (VWF) abnormality, which is characterized by severe reduction of VWF and factor VIII activity. A 16-year-old patient with NC and VWD type III presented with uremic symptoms due to ESRD. Dialysis access was inserted and followed by hemodialysis (HD) for 4 months with a proper infusion of blood products. While renal transplant remains the treatment of choice of NC and superior to chronic HD, bleeding complications were a major concern in this case with coexisting VWD type III. However, with the meticulous implementation of the Hematology team's daily recommendations, renal transplantation was successfully performed. This is the first case that mentions a new association between two inherited rare disorders, NC and VWD type III, and this entity has not been reported before. Moreover, successful kidney transplantation in our patient supports the possibility of these procedures in hereditary clotting disorders.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4d/14/cnd-0011-0362.PMC8739642.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39724784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy.","authors":"Tsugumi Fukunaga,&nbsp;Shingo Nakayama,&nbsp;Takuo Hirose,&nbsp;Kishin Muramatsu,&nbsp;Akari Endo,&nbsp;Yuka Miyake,&nbsp;Go Anan,&nbsp;Ikuko Oba-Yabana,&nbsp;Atsuhiro Kanno,&nbsp;Hannah Nakamura,&nbsp;Junichi Tani,&nbsp;Kimitoshi Nakamura,&nbsp;Kazuhiro Sumitomo,&nbsp;Wako Yumura,&nbsp;Katsutoshi Furukawa,&nbsp;Takefumi Mori","doi":"10.1159/000520157","DOIUrl":"https://doi.org/10.1159/000520157","url":null,"abstract":"<p><p>Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only urinary mulberry bodies; she was treated with pharmacological chaperone therapy (PCT) after renal biopsy. The patient underwent a detailed examination because her mother was diagnosed with FD in the Division of Community Medicine of our hospital. She did not have renal dysfunction or proteinuria, and only mulberry bodies were detected in the urine. The activity of α-galactosidase A was low, and genetic analysis revealed the R301Q mutation. A percutaneous renal biopsy was performed, and the findings revealed enlargement and vacuolation of glomerular podocytes by light microscopy, and myelin and zebra bodies were detected in podocytes by electron microscopy. She was diagnosed with FN by renal biopsy and gene analysis. PCT was selected as the treatment to prevent cardiac events and renal dysfunction. The present case suggests that renal biopsy may be necessary even for young women with only mulberry bodies for the diagnosis of FN. It could be useful to evaluate the effect of treatment using the counts of mulberry bodies in the urine. In addition, due to its oral administration, PCT may be suitable for patients who are unable to visit the hospital frequently.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/21/ba/cnd-0011-0355.PMC8739663.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39863397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemolysis in a Patient during Hemodialysis.","authors":"Maxime Taghavi,&nbsp;Lucas Jacobs,&nbsp;Saleh Kaysi,&nbsp;Maria do Carmo Filomena Mesquita","doi":"10.1159/000520559","DOIUrl":"https://doi.org/10.1159/000520559","url":null,"abstract":"<p><p>We report a case of hemolysis during a hemodialysis (HD) session in a 71-year-old man. His end-stage kidney disease is secondary to light-chain amyloidosis with renal involvement. Despite immunosuppressive treatment, his renal function continued to decline, and dialysis had to be initiated. Peritoneal dialysis (PD) was started but that had to be converted to HD because of pleural effusion due to PD fluid leakage. On the event day, the patient presented a respiratory distress 2 h after the initiation of HD. He developed a sudden onset of dyspnea with hypoxemia, associated with abdominal pain, nausea, and vomiting. He also presented chest pain with arterial hypertension. The pre-pump arterial and post-pump pressures were, respectively, 40 and 100 mm Hg, with no machine alarm. The blood color in the circuit changed and became darker, so HD was stopped immediately without blood restitution, and then a blood workup was obtained, and the patient was treated with oxygen therapy, IV methylprednisolone 40 mg, and IV furosemide 100 mg. Tubing checkup performed after the incident showed a kinked arterial tube which led to the suspicion of acute hemolysis. Blood transfusion was therefore urgently ordered, and the patient was immediately transferred to the intensive care unit (ICU). Artificial ventilation was required for 4 days, with initial massive blood transfusion. A 24-h treatment with extracorporeal cytokine adsorber CytoSorb^® was also performed, followed by the regular HD sessions thrice weekly. Evolution was favorable, and the patient was discharged from the ICU 18 days later.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f4/67/cnd-0011-0348.PMC8740279.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39863396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malignancy-Associated Membranous Nephropathy with Positive Anti-PLA2R Autoantibodies: Coincidence or Connection.","authors":"Lyle W Baker,&nbsp;Jaime Jimenez-Lopez,&nbsp;Xochiquetzal J Geiger,&nbsp;Nabeel Aslam","doi":"10.1159/000520399","DOIUrl":"https://doi.org/10.1159/000520399","url":null,"abstract":"<p><p>Membranous nephropathy (MN) is currently classified as either primary - often associated with positive anti-phospholipase-A2 receptor (PLA2R) autoantibodies - or as secondary - associated with malignancy, infection, medications, or autoimmune disease. We present a case of biopsy-proven MN with very high serum titer of anti-PLA2R autoantibodies in a patient with a synchronous diagnosis of poorly differentiated esophageal adenocarcinoma and renal cell carcinoma who presented with nephrotic syndrome. Based on the current classification, MN in the presence of active malignancy is diagnosed as secondary and unlikely to have positive anti-PLA2R autoantibodies. This raises several questions: whether this patient has secondary MN associated with malignancy and coincidentally discovered anti-PLA2R autoantibodies, primary MN due to anti-PLA2R autoantibodies with coincidentally discovered malignancy, or whether malignancy can induce the formation of anti-PLA2R autoantibodies that result in MN. This case report highlights the importance of age-appropriate cancer screening, even in patients with presumed primary MN and positive anti-PLA2R autoantibodies.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/56/d0/cnd-0011-0334.PMC8738902.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39863394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges.","authors":"Clara Pardinhas,&nbsp;Gustavo Santo,&nbsp;Luís Escada,&nbsp;Jorge Rodrigues,&nbsp;Maria Rosário Almeida,&nbsp;Rui Alves,&nbsp;Manuel Salgado","doi":"10.1159/000517141","DOIUrl":"https://doi.org/10.1159/000517141","url":null,"abstract":"<p><p>Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and thought to have clinical features of systemic polyarteritis nodosum, which negatively influenced its outcome, since TNF inhibitors seem to have efficacy on the vasculitic phenotype of DADA2. We present a case of a 28-year-old woman with a lifelong unknown syndrome and unique clinical manifestations recently recognized as DADA2. The first manifestation, at 3 months of age, was an episode of facial paralysis during which renovascular hypertension was diagnosed. Later, she developed episodes of prolonged fever, polyarthritis, Raynaud's phenomenon, gastrointestinal bleeding, and intracerebral hemorrhage. This inflammatory state ultimately led to the development of amyloid A amyloidosis and renal insufficiency.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/93/cc/cnd-0011-0340.PMC8739640.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39863395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IgA Nephropathy Secondary to Ipilimumab Use.","authors":"Sean C Dougherty, Nisa Desai, Helen P Cathro, Amanda Renaghan","doi":"10.1159/000519169","DOIUrl":"10.1159/000519169","url":null,"abstract":"<p><p>Ipilimumab is a human monoclonal antibody targeting cytotoxic T-lymphocyte-associated protein 4 approved for the treatment of non-small-cell lung cancer (NSCLC) and other malignancies. Despite a high prevalence of other immune-related adverse events (irAEs), checkpoint inhibitor (CPI)-related nephrotoxicity has been reported less frequently. In this clinical case report, we describe the evaluation of a 70-year-old female with stage IV NSCLC who presented with nephrotic range proteinuria 4 weeks after receiving her first cycle of ipilimumab. She underwent a renal biopsy and was found to have IgA nephropathy that was presumed to be secondary to ipilimumab use, given recent initiation of therapy and clinical history. Unfortunately, despite prompt initiation of corticosteroids, her acute kidney injury progressed and she required hemodialysis, later transitioning to hospice. To our knowledge, this is one of few reported cases of IgA nephropathy secondary to CPI use. With increasing use of CPIs, this case further emphasizes the need for continued surveillance for irAEs, which can occur at any point in a patient's treatment course.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a1/52/cnd-0011-0327.PMC8647129.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39872188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incoercible Vomiting in a Polycystic (ADPKD) Patient on Peritoneal Dialysis.","authors":"Victor Burguera Vion, R Haridian Sosa Barrios, Maria Delgado Yagüe, Milagros Fernández Lucas, Maite E Rivera Gorrín","doi":"10.1159/000520020","DOIUrl":"10.1159/000520020","url":null,"abstract":"<p><p>Although gastrointestinal symptoms are not uncommon in PD patients due to several causes, such as infusion volume with early satiety, constipation, or peritonitis, sometimes the differential diagnosis is more challenging for nephrologists. We present the case of a woman with end-stage renal disease due to autosomal dominant polycystic kidney disease on PD who presented with swollen legs and incoercible vomiting. After ruling out constipation and infection, an abdominal CT was done, revealing extrinsic compression of the intrahepatic inferior cava vein (ICV) and massive venous thrombosis from ICV to bilateral iliofemoral deep veins. In addition, CT also showed displacement and extrinsic compression of the stomach, pylorus, and duodenum due to an enlarged liver cyst. Percutaneous drainage and sclerosis of the cyst compressing the stomach was performed, anticoagulation was started, and the patient clinically improved with complete resolution of symptoms.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f2/cd/cnd-0011-0321.PMC8647083.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39872186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>Brevundimonas vesicularis</i> Peritonitis in a Chronic Peritoneal Dialysis Patient.","authors":"Vijayakumar Paramasivam,&nbsp;Armando Paez,&nbsp;Ashish Verma,&nbsp;Daniel Landry,&nbsp;Gregory L Braden","doi":"10.1159/000517140","DOIUrl":"https://doi.org/10.1159/000517140","url":null,"abstract":"<p><p>Gram-negative peritonitis in chronic peritoneal dialysis patients is difficult to treat and may result in catheter loss. <i>Brevundimonas vesicularis</i> is a Gram-negative rod bacterium which rarely causes infections in humans. A 41-year-old male receiving continuous cycling peritoneal dialysis for 5 months developed culture-negative peritonitis. He failed initial empiric treatment with intraperitoneal vancomycin and levofloxacin and thereafter intravenous gentamicin. <i>B. vesicularis</i> resistant to levofloxacin was isolated from the peritoneal fluid 21 days after his initial symptoms. Despite treatment with intravenous ceftriaxone and oral amoxicillin-clavulanate, the infection persisted, which required removal of the peritoneal catheter in order to cure this infection. We describe the features of <i>B. vesicularis</i> infection in our patient and the rarely reported additional cases.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/80/56/cnd-0011-0314.PMC8613580.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39597636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case Report of <i>COL4A5</i> Gene Mutation Alport Syndrome in 2 Native African Children.","authors":"Emmanuel Oduware,&nbsp;Nosakhare Joyce Iduoriyekemwen,&nbsp;Michael Ibadin,&nbsp;Henry Aikhionbare","doi":"10.1159/000519076","DOIUrl":"https://doi.org/10.1159/000519076","url":null,"abstract":"<p><p>Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalities of anterior lenticonus and yellow and white dots and flecks on the macular of the retina. In this report, we describe the cases of 2 siblings: 15- and 13-year-old boys of pure African descent with the <i>COL4A5</i> gene mutation. Both children had the classical features of Alport syndrome haematuria, proteinuria, progressive sensorineural high-tone hearing loss, and ocular abnormalities. Their renal abnormalities initially regressed on therapy with angiotensin-converting enzyme inhibitors but reoccurred, depicting the need for early diagnosis as the early institution of this therapy before significant glomerulopathy is advocated.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/45/24/cnd-0011-0308.PMC8613556.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39597633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Overlooked Link between IgA Nephropathy and Lithium Toxicity: A Case Report.","authors":"Sushil K Mehandru,&nbsp;Supreet Kaur,&nbsp;Aisha Ghias,&nbsp;Mohamed Bakr,&nbsp;Arif Asif,&nbsp;Tushar J Vachharajani","doi":"10.1159/000515586","DOIUrl":"https://doi.org/10.1159/000515586","url":null,"abstract":"<p><p>Lithium is one of the first-line agents for treating bipolar disorder. Although this agent is highly effective in treating mood disorders, renal toxicity is a frequent side effect. Lithium metabolism is affected by sodium-lithium counter-transporter (SLC-T) in erythrocytes. The high activity of SLC-T can result in decreased urinary lithium clearance and may lead to accumulation of lithium in the distal renal tubular cells, causing lithium toxicity. SLC-T is a genetic marker in primary hypertension (HTN), HTN in pregnancy, diabetic nephropathy, and IgA nephropathy (IgA-N) with HTN. Patients with IgA-N have been reported to have enhanced SLC-T activity and are likely to have considerably lower renal fractional clearance of lithium. Therefore, patients taking lithium for bipolar disorder with coexisting IgA-N can have severe lithium-induced nephropathy and nephrotoxicity even at therapeutic serum levels. Serum lithium levels reflect only extracellular lithium concentration. However, lithium exerts its effects once it has moved to the intracellular compartment. This phenomenon illustrates the reason why patients with significantly elevated serum levels might be asymptomatic. Creatinine clearance is inversely related to the duration of lithium therapy. The degree of interstitial fibrosis on renal biopsy has been known to be associated with the duration of lithium therapy and cumulative dose. We present a case with a past medical history of bipolar disorder treated with lithium for almost 20 years. His family history was significant for HTN. The patient was diagnosed with renal insufficiency of unknown causes, for which he underwent renal biopsy. The renal biopsy showed a typical lithium-induced tubulointerstitial nephritis and a coincidental finding of IgA-N. We suspect a high activity of SLC-T seen in IgA-N, and the adverse effects of lithium on SLC-T activity might cause reduction of urinary lithium clearance and accumulation of lithium in distal renal tubular cells, contributing to nephrotoxicity. There is a lack of the literature on the coexistence of IgA-N and lithium nephrotoxicity. We recommend in patients with concomitant IgA-N, taking lithium, more frequent monitoring of renal functions, and dose adjustments may reduce the risk of lithium-induced nephrotoxicity.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2021-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/18/63/cnd-0011-0301.PMC8543366.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39847238","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}