Pub Date : 2022-01-24eCollection Date: 2022-01-01DOI: 10.5414/CNCS110369
Yasmine S Humeda, William L Clapp, Humam Humeda
Acute renal failure is a well-known but uncommon complication of wasp stings. In rare instances, nephrotic syndrome (NS) has also been reported in association with wasp envenomation. The occurrence of minimal change disease (MCD) as a consequence of wasp stings is even less common, with only 1 case reported to date. We report a case of a 67-year-old man, with previously normal kidney function, presenting with acute renal failure with underlying NS due to biopsy-proven MCD, 1 month following numerous wasp stings. Despite treatment with corticosteroids, the patient required hemodialysis and treatment with loop diuretics and prednisone for 6 months until complete resolution. The patient remains free of NS, with normal renal function 3 years following remission.
{"title":"Minimal change disease after multiple wasp stings.","authors":"Yasmine S Humeda, William L Clapp, Humam Humeda","doi":"10.5414/CNCS110369","DOIUrl":"https://doi.org/10.5414/CNCS110369","url":null,"abstract":"<p><p>Acute renal failure is a well-known but uncommon complication of wasp stings. In rare instances, nephrotic syndrome (NS) has also been reported in association with wasp envenomation. The occurrence of minimal change disease (MCD) as a consequence of wasp stings is even less common, with only 1 case reported to date. We report a case of a 67-year-old man, with previously normal kidney function, presenting with acute renal failure with underlying NS due to biopsy-proven MCD, 1 month following numerous wasp stings. Despite treatment with corticosteroids, the patient required hemodialysis and treatment with loop diuretics and prednisone for 6 months until complete resolution. The patient remains free of NS, with normal renal function 3 years following remission.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":" ","pages":"16-20"},"PeriodicalIF":0.0,"publicationDate":"2022-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39872576","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}
Pub Date : 2022-01-24eCollection Date: 2022-01-01DOI: 10.5414/CNCS110464
Haresh Selvaskandan, Katherine Hull, Rachel Gregory, Daniel Pan, Thrasos Macriyiannis, Jenny Briggs, Catherine Richards, Catherine Mason, Jorge Jesus-Silva, Ricky Bell
Acute respiratory distress syndrome (ARDS) is a rare and under-reported complication of hypercalcemia, which often presents in conjunction with acute kidney injury (AKI). Unfamiliarity with the condition inevitably leads to management uncertainty, resulting in fatal outcomes. Early identification, however, confers a good prognosis. We report a case of a 40-year-old male who presented with severe hypercalcemia and AKI and rapidly deteriorated due to ARDS, with no evidence of cardiogenic pulmonary edema or fluid overload. Infection screens were negative. He died despite invasive ventilation and continuous venous-venous hemofiltration. His autopsy revealed extensive metastatic pulmonary calcifications and alveolar edema. We found only 10 other cases of hypercalcemia-induced ARDS in the literature, with only 2 patients surviving. We provide the first literature review on the subject to guide the management of this rare but fatal complication, which can be managed with good outcomes if considered early.
{"title":"Acute respiratory distress syndrome driven by severe hypercalcemia and acute kidney injury: A case report and literature review of a rare, life-threatening complication.","authors":"Haresh Selvaskandan, Katherine Hull, Rachel Gregory, Daniel Pan, Thrasos Macriyiannis, Jenny Briggs, Catherine Richards, Catherine Mason, Jorge Jesus-Silva, Ricky Bell","doi":"10.5414/CNCS110464","DOIUrl":"https://doi.org/10.5414/CNCS110464","url":null,"abstract":"<p><p>Acute respiratory distress syndrome (ARDS) is a rare and under-reported complication of hypercalcemia, which often presents in conjunction with acute kidney injury (AKI). Unfamiliarity with the condition inevitably leads to management uncertainty, resulting in fatal outcomes. Early identification, however, confers a good prognosis. We report a case of a 40-year-old male who presented with severe hypercalcemia and AKI and rapidly deteriorated due to ARDS, with no evidence of cardiogenic pulmonary edema or fluid overload. Infection screens were negative. He died despite invasive ventilation and continuous venous-venous hemofiltration. His autopsy revealed extensive metastatic pulmonary calcifications and alveolar edema. We found only 10 other cases of hypercalcemia-induced ARDS in the literature, with only 2 patients surviving. We provide the first literature review on the subject to guide the management of this rare but fatal complication, which can be managed with good outcomes if considered early.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":" ","pages":"21-27"},"PeriodicalIF":0.0,"publicationDate":"2022-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39879865","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}
Pub Date : 2022-01-24eCollection Date: 2022-01-01DOI: 10.5414/CNCS110737
Juan C Duque, Marwan Tabbara, Laisel Martinez, Karen Manzur-Pineda, Roberto I Vazquez-Padron, Adriana Dejman
Endovascular stent fractures are commonly seen in arteries but are rare events in the venous system. Stents deployed in hemodialysis vascular accesses can fracture and migrate to proximal locations. Complications associated with stent fracture include in-stent stenosis and central vein stenosis. In this report, we present a unique case of a hemodialysis access stent fracture that migrated to the left ventricle and manifested with chest pain.
{"title":"An atypical case of hemodialysis access stent migration.","authors":"Juan C Duque, Marwan Tabbara, Laisel Martinez, Karen Manzur-Pineda, Roberto I Vazquez-Padron, Adriana Dejman","doi":"10.5414/CNCS110737","DOIUrl":"10.5414/CNCS110737","url":null,"abstract":"<p><p>Endovascular stent fractures are commonly seen in arteries but are rare events in the venous system. Stents deployed in hemodialysis vascular accesses can fracture and migrate to proximal locations. Complications associated with stent fracture include in-stent stenosis and central vein stenosis. In this report, we present a unique case of a hemodialysis access stent fracture that migrated to the left ventricle and manifested with chest pain.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":" ","pages":"28-31"},"PeriodicalIF":0.0,"publicationDate":"2022-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39872577","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}
Pub Date : 2022-01-10eCollection Date: 2022-01-01DOI: 10.5414/CNCS110740
Larissa G Rigueto, Henrique M Santiago, David J Hadad, Antonio Carlos Seguro, Adriana Castello C Girardi, Weverton M Luchi
Hyponatremia is the most common electrolyte disorder in hospitalized patients. The syndrome of inappropriate antidiuresis (SIAD) is one of the leading causes of hyponatremia. Although not widely known, SIAD has a vast spectrum of etiologies and differential diagnoses and has been classically divided into four types (A, B, C, D). Frequently, when we use the term SIAD in clinical practice, it refers to subtype A, the so-called classic SIAD. The purpose of reporting this case is to make the clinicians aware of a specific subtype of SIAD, type C, an underdiagnosed entity called osmostat reset (OR). Due to similarities, OR often ends up being misinterpreted as classic SIAD. However, the differentiation between these two entities is crucial due to treatment implications. This manuscript highlights the use of an algorithm, based on the fraction of uric acid excretion, as an approach to the differential diagnosis of hyponatremia.
{"title":"The \"new normal\" osmotic threshold: Osmostat reset.","authors":"Larissa G Rigueto, Henrique M Santiago, David J Hadad, Antonio Carlos Seguro, Adriana Castello C Girardi, Weverton M Luchi","doi":"10.5414/CNCS110740","DOIUrl":"https://doi.org/10.5414/CNCS110740","url":null,"abstract":"<p><p>Hyponatremia is the most common electrolyte disorder in hospitalized patients. The syndrome of inappropriate antidiuresis (SIAD) is one of the leading causes of hyponatremia. Although not widely known, SIAD has a vast spectrum of etiologies and differential diagnoses and has been classically divided into four types (A, B, C, D). Frequently, when we use the term SIAD in clinical practice, it refers to subtype A, the so-called classic SIAD. The purpose of reporting this case is to make the clinicians aware of a specific subtype of SIAD, type C, an underdiagnosed entity called osmostat reset (OR). Due to similarities, OR often ends up being misinterpreted as classic SIAD. However, the differentiation between these two entities is crucial due to treatment implications. This manuscript highlights the use of an algorithm, based on the fraction of uric acid excretion, as an approach to the differential diagnosis of hyponatremia.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":" ","pages":"11-15"},"PeriodicalIF":0.0,"publicationDate":"2022-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39821626","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}
. Acute tubular injury is the lesion most frequently described in this disease. However, four cases of ANCA-associated vasculitis (AAV) with COVID-19 with pauci-immune glomerulonephritis have recently been described. We report the case of an African woman, aged 70, in whom we diagnosed an AAV with pauci-immune glomerulonephritis in the context of COVID-19. She was treated with hydroxychloroquine and azithromycin for COVID-19. Corticosteroids and cyclophosphamide have been used for the treatment of vasculitis. The evolution was marked by the reappearance of COVID-19 one month after the beginning of an immunosuppressive therapy. The patient died a week later from respiratory failure. The occurrence of AAV during COVID-19 may not be due an unfortunate association but triggered by infection with SARS-CoV-2. The use of immunosuppressive therapy should be discussed due to the potential risk of reactivation or recurrence of the viral infection.
{"title":"Recurrence or reactivation of SARS-CoV-2 infection after immunosuppressive therapy in patients with ANCA-associated vasculitis and COVID-19.","authors":"Mansour Mbengue, Bede Bigirimana, Lolly Romeo Irankunda, Mohamed Cherif Dial, Abdou Niang","doi":"10.5414/CNCS110567","DOIUrl":"https://doi.org/10.5414/CNCS110567","url":null,"abstract":"<p><p>. Acute tubular injury is the lesion most frequently described in this disease. However, four cases of ANCA-associated vasculitis (AAV) with COVID-19 with pauci-immune glomerulonephritis have recently been described. We report the case of an African woman, aged 70, in whom we diagnosed an AAV with pauci-immune glomerulonephritis in the context of COVID-19. She was treated with hydroxychloroquine and azithromycin for COVID-19. Corticosteroids and cyclophosphamide have been used for the treatment of vasculitis. The evolution was marked by the reappearance of COVID-19 one month after the beginning of an immunosuppressive therapy. The patient died a week later from respiratory failure. The occurrence of AAV during COVID-19 may not be due an unfortunate association but triggered by infection with SARS-CoV-2. The use of immunosuppressive therapy should be discussed due to the potential risk of reactivation or recurrence of the viral infection.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":" ","pages":"6-10"},"PeriodicalIF":0.0,"publicationDate":"2022-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39821625","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}
Pub Date : 2022-01-05eCollection Date: 2022-01-01DOI: 10.5414/CNCS110565
Tahira Scott, Sree Krishna Venuthurupalli
Resistant hypertension is a common presentation of renal artery stenosis. Hypertension secondary to renal artery stenosis is typically managed with lifestyle and pharmacological interventions and less commonly with angioplasty or stenting, although exact treatment varies depending on the cause. In select cases refractory to these measures, kidney autotransplantation may be a valuable last-line approach. This case report demonstrates the successful use of kidney autotransplant for managing resistant hypertension in a young male with Takayasu's arteritis and renal artery stenosis of a solitary kidney. We review the literature on the indications for kidney autotransplantation in renal artery stenosis, including the outcomes on blood pressure control and renal function and also the potential complications.
{"title":"Kidney autotransplantation as a treatment for resistant hypertension due to renal artery stenosis: A case report and review of the literature.","authors":"Tahira Scott, Sree Krishna Venuthurupalli","doi":"10.5414/CNCS110565","DOIUrl":"https://doi.org/10.5414/CNCS110565","url":null,"abstract":"<p><p>Resistant hypertension is a common presentation of renal artery stenosis. Hypertension secondary to renal artery stenosis is typically managed with lifestyle and pharmacological interventions and less commonly with angioplasty or stenting, although exact treatment varies depending on the cause. In select cases refractory to these measures, kidney autotransplantation may be a valuable last-line approach. This case report demonstrates the successful use of kidney autotransplant for managing resistant hypertension in a young male with Takayasu's arteritis and renal artery stenosis of a solitary kidney. We review the literature on the indications for kidney autotransplantation in renal artery stenosis, including the outcomes on blood pressure control and renal function and also the potential complications.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":" ","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2022-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39821624","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}
Prasanth Ravipati, Lihong Bu, Zohar Sachs, Patrick H Nachman
Kidney disease can be an initial presentation or a chronic manifestation of plasma cell dyscrasias. Here, we describe a rare presentation of kidney disease driven by lymphomatous infiltration of the kidney in a patient with Waldenstrom's macroglobulinemia (WM). A 70-year-old female with an 8-year history of WM (IgM, κ) was referred for declining renal function. Prior to presentation, she had stable WM disease without evidence of worsening disease burden. She had been previously hospitalized with SARS-CoV-2 infection and acute kidney injury (AKI). Her serum creatinine (sCr) peaked at 3.7 mg/dL (baseline 0.9 mg/dL) but recovered to 1.1 mg/dL by the time of discharge. Two months after discharge, her sCr increased to 1.9 mg/dL, and she had new proteinuria of 1.5 g/day. Kidney biopsy showed lymphomatous infiltration of the interstitium without glomerular involvement. Treatment with rituximab and bendamustine resulted in an improvement in renal function (sCr 1.4 mg/dL). WM is an uncommon hematologic malignancy, and extramedullary involvement, including renal involvement, is rare. This case emphasizes the importance of surveillance for kidney dysfunction in patients with plasma cell dyscrasias, even if patients appear to have stable lymphoproliferative disease.
{"title":"Lymphomatous infiltration of the kidney in a patient with Waldenstrom's macroglobulinemia.","authors":"Prasanth Ravipati, Lihong Bu, Zohar Sachs, Patrick H Nachman","doi":"10.5414/CNCS110756","DOIUrl":"https://doi.org/10.5414/CNCS110756","url":null,"abstract":"<p><p>Kidney disease can be an initial presentation or a chronic manifestation of plasma cell dyscrasias. Here, we describe a rare presentation of kidney disease driven by lymphomatous infiltration of the kidney in a patient with Waldenstrom's macroglobulinemia (WM). A 70-year-old female with an 8-year history of WM (IgM, κ) was referred for declining renal function. Prior to presentation, she had stable WM disease without evidence of worsening disease burden. She had been previously hospitalized with SARS-CoV-2 infection and acute kidney injury (AKI). Her serum creatinine (sCr) peaked at 3.7 mg/dL (baseline 0.9 mg/dL) but recovered to 1.1 mg/dL by the time of discharge. Two months after discharge, her sCr increased to 1.9 mg/dL, and she had new proteinuria of 1.5 g/day. Kidney biopsy showed lymphomatous infiltration of the interstitium without glomerular involvement. Treatment with rituximab and bendamustine resulted in an improvement in renal function (sCr 1.4 mg/dL). WM is an uncommon hematologic malignancy, and extramedullary involvement, including renal involvement, is rare. This case emphasizes the importance of surveillance for kidney dysfunction in patients with plasma cell dyscrasias, even if patients appear to have stable lymphoproliferative disease.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":"10 ","pages":"87-90"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9795319/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10512464","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}
John M Hoppe, Alexander Holderied, Ulf Schönermarck, Volker Vielhauer, Hans-Joachim Anders, Michael Fischereder
Management of calcineurin inhibitor (CNI) therapy in kidney transplant recipients may be complicated due to polypharmacy. As CNI undergo extensive metabolism by cytochrome-P450 enzymes (CYP), drug-mediated CYP inhibition poses a risk for elevated CNI blood concentrations. Here, we report on 2 kidney transplant recipients treated with tacrolimus who presented with signs of tacrolimus intoxication at admission. Patient A was started on antiviral medication ombitasvir, paritaprevir, ritonavir, and dasabuvir for hepatitis C virus treatment 3 days prior to hospitalization. Patient B was treated with clarithromycin for pneumonia. Both therapies cause drug-mediated CYP inhibition, and both patients displayed highly elevated tacrolimus serum concentrations and acute kidney injury (Table 1). After application of the CYP-inducing agents rifampicin and phenytoin, respectively, tacrolimus levels were rapidly reduced, and renal function recovered. Treating severe CNI intoxication is an infrequent yet emergent condition. These results add to the knowledge of therapeutic drug-induced CYP induction as rescue therapy.
{"title":"Drug-induced CYP induction as therapy for tacrolimus intoxication.","authors":"John M Hoppe, Alexander Holderied, Ulf Schönermarck, Volker Vielhauer, Hans-Joachim Anders, Michael Fischereder","doi":"10.5414/CNCS110744","DOIUrl":"https://doi.org/10.5414/CNCS110744","url":null,"abstract":"<p><p>Management of calcineurin inhibitor (CNI) therapy in kidney transplant recipients may be complicated due to polypharmacy. As CNI undergo extensive metabolism by cytochrome-P450 enzymes (CYP), drug-mediated CYP inhibition poses a risk for elevated CNI blood concentrations. Here, we report on 2 kidney transplant recipients treated with tacrolimus who presented with signs of tacrolimus intoxication at admission. Patient A was started on antiviral medication ombitasvir, paritaprevir, ritonavir, and dasabuvir for hepatitis C virus treatment 3 days prior to hospitalization. Patient B was treated with clarithromycin for pneumonia. Both therapies cause drug-mediated CYP inhibition, and both patients displayed highly elevated tacrolimus serum concentrations and acute kidney injury (Table 1). After application of the CYP-inducing agents rifampicin and phenytoin, respectively, tacrolimus levels were rapidly reduced, and renal function recovered. Treating severe CNI intoxication is an infrequent yet emergent condition. These results add to the knowledge of therapeutic drug-induced CYP induction as rescue therapy.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":"10 ","pages":"42-46"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9153279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10245376","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}
Oulimata K Grossman, Claire F Schretlen, Linda S Nield
Introduction: The medical literature is scant with reports of twins diagnosed with nephrotic syndrome associated with genetic mutations. Mutations in the protein coding paired box gene 2 (PAX2) and in the non-muscle class I myosin, myosin 1E, (MYO1E) have been implicated in the development of steroid-resistant nephrotic syndrome. We describe the first case, to our knowledge, of the concordant presentation of nephrotic syndrome in twins with simultaneous mutations in PAX2 and MYO1E.
Case report: At 32 months and 33 months of age, monochorionic, diamniotic twin girls presented with nephrotic syndrome. Each twin experienced three relapses during or after completion of corticosteroid treatment. Sustained remission was achieved with tacrolimus. Genetic testing of each twin revealed two heterozygous mutations of MYO1E and one homozygous mutation of PAX2. Renal biopsy results of one twin revealed pathologic findings consistent with minimal change nephropathy. The twins' phenotypes have been essentially identical.
Conclusion: Our cases add to the scant medical literature addressing nephrotic syndrome in twins with genetic mutations. Close monitoring of our unique patients will provide novel information about the clinical significance of combined mutations in PAX2 and MYO1E.
{"title":"Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations.","authors":"Oulimata K Grossman, Claire F Schretlen, Linda S Nield","doi":"10.5414/CNCS110799","DOIUrl":"https://doi.org/10.5414/CNCS110799","url":null,"abstract":"<p><strong>Introduction: </strong>The medical literature is scant with reports of twins diagnosed with nephrotic syndrome associated with genetic mutations. Mutations in the protein coding paired box gene 2 (<i>PAX2</i>) and in the non-muscle class I myosin, myosin 1E, (<i>MYO1E</i>) have been implicated in the development of steroid-resistant nephrotic syndrome. We describe the first case, to our knowledge, of the concordant presentation of nephrotic syndrome in twins with simultaneous mutations in <i>PAX2</i> and <i>MYO1E</i>.</p><p><strong>Case report: </strong>At 32 months and 33 months of age, monochorionic, diamniotic twin girls presented with nephrotic syndrome. Each twin experienced three relapses during or after completion of corticosteroid treatment. Sustained remission was achieved with tacrolimus. Genetic testing of each twin revealed two heterozygous mutations of <i>MYO1E</i> and one homozygous mutation of <i>PAX2</i>. Renal biopsy results of one twin revealed pathologic findings consistent with minimal change nephropathy. The twins' phenotypes have been essentially identical.</p><p><strong>Conclusion: </strong>Our cases add to the scant medical literature addressing nephrotic syndrome in twins with genetic mutations. Close monitoring of our unique patients will provide novel information about the clinical significance of combined mutations in <i>PAX2</i> and <i>MYO1E</i>.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":"10 ","pages":"37-41"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10252385","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}
Catarina Mateus, Eunice Cacheira, Ivo Laranjinha, Jorge Dickson, Augusta Gaspar
Nodular glomerulosclerosis is classically associated with diabetes. Nowadays, it is well known that this histologic pattern can be the presentation of different diseases, including dysproteinemias and amyloidosis. Most recently, the previously thought to be idiopathic nodular glomerulosclerosis has been associated with hypertension, smoking, and obesity. We present a clinical case of a non-diabetic 74-year-old man, with hypertension and heavy smoking history, who presented with nephrotic proteinuria and chronic kidney disease. We review the literature and propose a different nomenclature for this pattern of metabolic glomerulopathy.
{"title":"Non-diabetic metabolic nodular glomerulosclerosis.","authors":"Catarina Mateus, Eunice Cacheira, Ivo Laranjinha, Jorge Dickson, Augusta Gaspar","doi":"10.5414/CNCS110943","DOIUrl":"https://doi.org/10.5414/CNCS110943","url":null,"abstract":"<p><p>Nodular glomerulosclerosis is classically associated with diabetes. Nowadays, it is well known that this histologic pattern can be the presentation of different diseases, including dysproteinemias and amyloidosis. Most recently, the previously thought to be idiopathic nodular glomerulosclerosis has been associated with hypertension, smoking, and obesity. We present a clinical case of a non-diabetic 74-year-old man, with hypertension and heavy smoking history, who presented with nephrotic proteinuria and chronic kidney disease. We review the literature and propose a different nomenclature for this pattern of metabolic glomerulopathy.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":"10 ","pages":"82-86"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9746242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10732171","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}