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Relapse of Steroid-Dependent Nephrotic Syndrome Despite Long-Term Ciclosporin Therapy in an 11-Year-Old Child: A Case Report and Review on the Management of Nephrotic Syndrome in Children. 1例11岁儿童长期环孢素治疗后类固醇依赖性肾病综合征复发:1例儿童肾病综合征治疗报告及回顾
Case Reports in Nephrology Pub Date : 2026-08-16 eCollection Date: 2026-01-01 DOI: 10.1155/crin/1396986
Abdullah Faiz Zaihan, Nurdiana Jamil, Chia Siang Kow
{"title":"Relapse of Steroid-Dependent Nephrotic Syndrome Despite Long-Term Ciclosporin Therapy in an 11-Year-Old Child: A Case Report and Review on the Management of Nephrotic Syndrome in Children.","authors":"Abdullah Faiz Zaihan, Nurdiana Jamil, Chia Siang Kow","doi":"10.1155/crin/1396986","DOIUrl":"10.1155/crin/1396986","url":null,"abstract":"<p><strong>Background: </strong>Frequently relapsing nephrotic syndrome (FRNS) and steroid-dependent nephrotic syndrome (SDNS) are distinct phenotypes defined by relapse frequency and the temporal relationship of relapse to prednisolone therapy, respectively. Both remain therapeutic challenges despite the use of corticosteroid-sparing agents. Relapses may be triggered by intercurrent infections and can be complicated by significant edema, hypoalbuminemia, and infection risk, requiring prompt optimization of immunosuppressive and supportive therapy.</p><p><strong>Case presentation: </strong>An 11-year-old boy with SDNS presented with a two-day history of bilateral periorbital swelling and facial puffiness following fever, rhinorrhea, and productive cough. He had experienced 11 previous relapses and was receiving ciclosporin 50 mg twice daily and enalapril 5 mg once daily with good adherence. Previous kidney biopsy showed minor glomerular change, and ciclosporin trough concentration was therapeutic. On admission, he was febrile (38.3°C) with leukocytosis, neutrophilia, thrombocytosis, marked hypoalbuminemia, significant proteinuria, and hematuria. Penicillin V was initiated for spontaneous bacterial peritonitis prophylaxis. Prednisolone was optimized from 40 mg once daily to 30 mg twice daily based on a body surface area of 1.17 m<sup>2</sup>. Progressive edema and weight gain required escalation to intravenous frusemide with 20% human albumin, resulting in marked clinical improvement. Proteinuria, hematuria, and ascites resolved, and he was discharged clinically stable with minimal residual edema.</p><p><strong>Conclusion: </strong>This case highlights several important therapeutic considerations in relapsing childhood nephrotic syndrome: recognition of SDNS as a subgroup of SSNS, accurate prednisolone dosing during relapse, careful assessment of edema and intravascular volume status before diuretic therapy, and individualized use of steroid-sparing agents and antimicrobial prophylaxis. In children receiving prolonged ciclosporin therapy, treatment should be regularly reviewed with blood pressure, renal function, and therapeutic drug monitoring in view of potential calcineurin inhibitor toxicity, and alternative steroid-sparing options such as levamisole may be considered where clinically appropriate.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"1396986"},"PeriodicalIF":0.0,"publicationDate":"2026-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13478731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788537","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 Classic and Unusual Presentation of Atheroembolic Renal Disease: Report of Two Cases. 肾动脉粥样硬化性疾病的典型和不寻常表现:两例报告。
Case Reports in Nephrology Pub Date : 2026-08-10 eCollection Date: 2026-01-01 DOI: 10.1155/crin/9627594
Kai Zong Teo, Angela Bayly, Surjit Tarafdar, Lisa Phipps, Jian Cheng, Seethalakshmi Viswanathan
{"title":"A Classic and Unusual Presentation of Atheroembolic Renal Disease: Report of Two Cases.","authors":"Kai Zong Teo, Angela Bayly, Surjit Tarafdar, Lisa Phipps, Jian Cheng, Seethalakshmi Viswanathan","doi":"10.1155/crin/9627594","DOIUrl":"10.1155/crin/9627594","url":null,"abstract":"<p><p>Atheroembolic renal disease (AERD) is an underdiagnosed condition with diverse clinical presentations that can mimic various renal pathologies. Most cases follow intravascular procedures or anticoagulation, while only rare case reports of spontaneous AERD have been described. We present two contrasting cases of AERD with markedly different presentations. The first patient was a 74-year-old male who presented with worsening dyspnoea, acute renal failure and skin changes following coronary bypass surgery, typical of AERD. The second patient was a 70-year-old male who presented with symptomatic hypertension and acute-on-chronic kidney injury without identifiable precipitating factors, initially suspected to be rapidly progressive glomerulonephritis. Renal biopsies revealed cholesterol emboli within arteries, characterised by needle-shaped clefts surrounded by foreign body giant cells, with background interstitial fibrosis and tubular atrophy confirming the diagnosis. These contrasting cases demonstrate the diagnostic challenges of AERD and highlight the importance of renal biopsy for accurate diagnosis in both classic and atypical presentations.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"9627594"},"PeriodicalIF":0.0,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13455123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705572","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
Favorable Outcome With Eculizumab in Hemolytic Uremic Syndrome Presenting With Severe Neurological Complications: A Case Report. Eculizumab治疗伴有严重神经系统并发症的溶血性尿毒症综合征的有利结果:1例报告。
Case Reports in Nephrology Pub Date : 2026-08-03 eCollection Date: 2026-01-01 DOI: 10.1155/crin/8844271
Maryam Zaitoun, Abdulkarim Alanazi, Tasneem Kattash, Abdullah Wali, Amna Abdelbagi, Sawsan Al Batati, Hassan Faqeehi, Saeed Al Zabali
{"title":"Favorable Outcome With Eculizumab in Hemolytic Uremic Syndrome Presenting With Severe Neurological Complications: A Case Report.","authors":"Maryam Zaitoun, Abdulkarim Alanazi, Tasneem Kattash, Abdullah Wali, Amna Abdelbagi, Sawsan Al Batati, Hassan Faqeehi, Saeed Al Zabali","doi":"10.1155/crin/8844271","DOIUrl":"10.1155/crin/8844271","url":null,"abstract":"<p><strong>Introduction: </strong>Thrombotic microangiopathies (TMAs) are a group of rare, life-threatening disorders characterized by a classic triad of MAHA, severe thrombocytopenia, and ischemic tissue injury. Thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS) are the main types of TMAs. Based on the cause, HUS can be classified as typical or atypical.</p><p><strong>Case presentation: </strong>We present the case of a 4-year-old child referred to King Fahad Medical City in Riyadh, Saudi Arabia, with complaints of bloody diarrhea, vomiting, and fever. The condition progressed to altered consciousness, seizures, and quadriparesis.</p><p><strong>Result: </strong>Upon admission, the patient received plasma infusion and underwent peritoneal dialysis. Eculizumab therapy was initiated 1 week after the presentation. Hematological and renal parameters improved rapidly, but neurological recovery was gradual, with significant progress observed over 6 years of follow-up.</p><p><strong>Conclusion: </strong>This case highlights that severe neurological manifestations can be an initial feature of HUS, not just TTP. Eculizumab was effective and life-saving in pediatric patients with TMA and severe neurological involvement, though CNS recovery may take years.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"8844271"},"PeriodicalIF":0.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13434026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148673011","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 Rare Diagnostic Dilemma of P-ANCA/MPO Positive Crescentic Glomerulonephritis in an Immunosuppressed Lupus Patient. 罕见的诊断困境P-ANCA/MPO阳性月牙状肾小球肾炎在免疫抑制狼疮患者。
Case Reports in Nephrology Pub Date : 2026-07-15 eCollection Date: 2026-01-01 DOI: 10.1155/crin/1850355
Omar Elrefy, Sweta Carpenter, Manu Saini, Manjula Balasubramanian, Daranee Chewaproug
{"title":"A Rare Diagnostic Dilemma of P-ANCA/MPO Positive Crescentic Glomerulonephritis in an Immunosuppressed Lupus Patient.","authors":"Omar Elrefy, Sweta Carpenter, Manu Saini, Manjula Balasubramanian, Daranee Chewaproug","doi":"10.1155/crin/1850355","DOIUrl":"10.1155/crin/1850355","url":null,"abstract":"<p><p>Perinuclear antineutrophil cytoplasmic antibodies (P-ANCAs) and myeloperoxidase (MPO) antibodies are detected in 15%-25% of lupus nephritis patients, but systemic lupus erythematosus (SLE)/ANCA-associated vasculitis (AAV) overlap syndrome is rare, occurring in approximately 2% of cases. We present a 57-year-old woman with SLE and antiphospholipid syndrome (APS) on belimumab, hydroxychloroquine, and prednisone, who presented with acute ischemic stroke requiring thrombectomy and rapidly progressive renal failure (creatinine rising from 1.1 to 5.2 mg/dL) with nephrotic-range proteinuria (8.6 g/g). P-ANCA titer was > 1:640 with MPO positivity, while anti-dsDNA, C3, and C4 were normal. Kidney biopsy revealed crescentic glomerulonephritis with neutrophil-rich infiltrates and immune complex deposits on electron microscopy but without \"full house\" immunofluorescence, favoring SLE/AAV overlap rather than isolated lupus nephritis flare. Treatment with methylprednisolone, rituximab, and anticoagulation resulted in significant renal recovery (creatinine 1.7 mg/dL, proteinuria 4.4 g/g). This case highlights the importance of ANCA testing in SLE patients with unexplained rapidly progressive glomerulonephritis, as early recognition of overlap syndrome carries distinct therapeutic implications, including the use of rituximab-based regimens targeting both disease processes.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"1850355"},"PeriodicalIF":0.0,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13373297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469238","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
The Common Collagen of Alport Syndrome and Arthritis: A Case Report and Review of Pathophysiology. 阿尔波特综合征和关节炎的共同胶原蛋白:一例报告和病理生理复习。
Case Reports in Nephrology Pub Date : 2026-07-01 eCollection Date: 2026-01-01 DOI: 10.1155/crin/9705418
Craig A Mendonca, Lalarukh Haider, Anusha Attre, Eric M Mortensen, Narinder Maheshwari
{"title":"The Common Collagen of Alport Syndrome and Arthritis: A Case Report and Review of Pathophysiology.","authors":"Craig A Mendonca, Lalarukh Haider, Anusha Attre, Eric M Mortensen, Narinder Maheshwari","doi":"10.1155/crin/9705418","DOIUrl":"10.1155/crin/9705418","url":null,"abstract":"<p><strong>Aim: </strong>Through the lens of a clinical case, we explore the overlap in pathophysiology between Alport syndrome and seronegative inflammatory arthritis, focusing on the collagen structural changes that can occur in Alport syndrome.</p><p><strong>Results: </strong>Genetic variant information was obtained for a patient diagnosed with Alport syndrome. Few cases of Alport syndrome associated with inflammatory arthritis have been reported in the literature so far. The genes encoding collagen fibrils affected in Alport syndrome are also expressed in hyaline cartilage. The inflammatory response triggered by these misfolded, truncated, or missing proteins may contribute to inflammatory pathways present in arthritis through compromised collagen structures.</p><p><strong>Clinical takeaway: </strong>Evaluation of hematuria and concomitant inflammatory arthritis should include consideration of hereditary connective tissue disorders, such as Alport syndrome.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"9705418"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13319906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148366972","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
Exercise-Induced Rhabdomyolysis With Markedly Elevated Creatine Kinase and Preserved Renal Function. 运动诱导横纹肌溶解伴肌酸激酶显著升高和肾功能保留。
Case Reports in Nephrology Pub Date : 2026-07-01 eCollection Date: 2026-01-01 DOI: 10.1155/crin/3900923
Navuddh Oam, Sophareine Samphon, Pisey Say, Samith Sourn
{"title":"Exercise-Induced Rhabdomyolysis With Markedly Elevated Creatine Kinase and Preserved Renal Function.","authors":"Navuddh Oam, Sophareine Samphon, Pisey Say, Samith Sourn","doi":"10.1155/crin/3900923","DOIUrl":"10.1155/crin/3900923","url":null,"abstract":"<p><strong>Background: </strong>Exercise-induced rhabdomyolysis results from skeletal muscle injury after strenuous or unaccustomed exertion. Acute kidney injury is a feared complication, but creatine kinase magnitude alone is an imperfect predictor of kidney injury.</p><p><strong>Case presentation: </strong>A 24-year-old previously healthy male presented with dark urine after one week of high-intensity resistance and eccentric exercise as a novice participant in structured high-intensity training. He reported daily oral hydration of more than 2.5 L and denied creatine monohydrate use. Initial tests showed creatine kinase of 79,038 U/L, creatinine of 1.3 mg/dL, estimated glomerular filtration rate of approximately 79 mL/min/1.73 m<sup>2</sup> by the 2021 CKD-EPI creatinine equation, aspartate aminotransferase (AST) of 507 U/L, and urine dipstick blood of 3+ with few red blood cells. Urea, potassium, calcium, magnesium, and phosphorus were within reference ranges, and urinalysis showed only trace protein without leukocytes or nitrites. He received isotonic intravenous fluids without bicarbonate, diuretics, or renal replacement therapy. Creatinine decreased to 0.6 mg/dL within 24 h and remained stable; urine dipstick blood became negative by Day 2; creatine kinase declined to 722 U/L by Day 10 and 287 U/L by Day 16, while creatinine remained normal at 0.7 mg/dL and aminotransferases improved to AST of 25 U/L and ALT of 42 U/L.</p><p><strong>Conclusion: </strong>This case is best interpreted as severe exertional rhabdomyolysis with pigmenturia and preserved renal function, rather than confirmed intrinsic acute kidney injury. The report highlights the need to avoid creatine kinase-centric risk assessment and to interpret a mildly elevated admission creatinine in context, especially when rapid normalization follows fluid resuscitation.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"3900923"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13323845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148374629","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
Liddle Syndrome Presenting as Hypertensive Crisis and Myocardial Injury in a Young Male: A Case Report. 以高血压危象和心肌损伤为表现的年轻男性Liddle综合征一例报告。
Case Reports in Nephrology Pub Date : 2026-06-28 eCollection Date: 2026-01-01 DOI: 10.1155/crin/7218869
Abbas Khan, Alina Batool, Askar Nisar, Jaweria Farman, Okasha Tahir, Muhammad Hassaan Javaid, Raghabendra Kumar Mahato, Tayyeb Ali
{"title":"Liddle Syndrome Presenting as Hypertensive Crisis and Myocardial Injury in a Young Male: A Case Report.","authors":"Abbas Khan, Alina Batool, Askar Nisar, Jaweria Farman, Okasha Tahir, Muhammad Hassaan Javaid, Raghabendra Kumar Mahato, Tayyeb Ali","doi":"10.1155/crin/7218869","DOIUrl":"10.1155/crin/7218869","url":null,"abstract":"<p><strong>Introduction: </strong>Liddle's syndrome is a rare inherited disorder associated with early-onset and resistant hypertension due to hyperactivity of epithelial sodium channels (ENaCs). The condition is caused by mutations in the genes SCNN1A, SCNN1B, and SCNN1G. Liddle's syndrome leads to hypertension, hypokalemia, and metabolic alkalosis.</p><p><strong>Case presentation: </strong>A previously healthy 21-year-old male patient complained of severe central chest pain radiating to both arms and had a hypertensive emergency with a BP reading of 267/170 mmHg. The patient had marked elevation in troponin I (13.9 ng/mL), hypokalemia (2.8 mmol/L), and metabolic alkalosis. The electrocardiogram showed left ventricular hypertrophy with a strain pattern and QTc prolongation due to hypokalemia. Coronary angiography ruled out the possibility of primary acute coronary syndrome by revealing normal coronary arteries. Echocardiogram showed concentric left ventricular hypertrophy with normal ejection fraction and no wall motion abnormalities. In search of the secondary cause of hypertension, renal Doppler ultrasonography and aldosterone-to-renin ratio were normal, thus ruling out primary hyperaldosteronism. About the typical clinical and biochemical presentation, a clinical diagnosis of Liddle syndrome was highly likely. Genetic tests were not performed owing to financial constraints. However, treatment with amiloride brought about remarkable improvement in the control of hypertension and normalization of potassium levels.</p><p><strong>Conclusion: </strong>Liddle's syndrome should be suspected in cases where there are young individuals who have severe hypertension, hypokalaemia, and an aldosterone-to-renin ratio that is normal or low. The diagnosis must be made promptly because delay may lead to complications. In instances where molecular testing is impractical, treatment with ENaC inhibition using amiloride is diagnostic and potentially life-saving.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"7218869"},"PeriodicalIF":0.0,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13310365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148343972","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
Dual Aetiology of Diabetes Insipidus in Pregnancy: Vasopressinase-Mediated and Central Mechanisms. 妊娠期尿崩症的双重病因:加压酶介导和中枢机制。
Case Reports in Nephrology Pub Date : 2026-06-19 eCollection Date: 2026-01-01 DOI: 10.1155/crin/7536497
Philani Ezekiel Mkhize, Pauli van Heerden, Tholakele Sabela, Mogamat Razeen Davids, Mogamat-Yazied Chothia
{"title":"Dual Aetiology of Diabetes Insipidus in Pregnancy: Vasopressinase-Mediated and Central Mechanisms.","authors":"Philani Ezekiel Mkhize, Pauli van Heerden, Tholakele Sabela, Mogamat Razeen Davids, Mogamat-Yazied Chothia","doi":"10.1155/crin/7536497","DOIUrl":"10.1155/crin/7536497","url":null,"abstract":"<p><p>Diabetes insipidus (DI) is a heterogeneous disorder characterised by polyuria and polydipsia due to impaired arginine vasopressin (AVP) secretion or action. We describe a 36-year-old pregnant woman who presented at 28 weeks' gestation with weakness, severe hypokalaemia from renal potassium wasting, hypernatraemia and polyuria with dilute urine. Vasopressinase-mediated DI was suspected; there was no response to AVP, but desmopressin (dDAVP) produced a rapid clinical improvement, confirming the diagnosis. However, postpartum recurrence of symptoms prompted further evaluation, with imaging suggestive of lymphocytic infundibuloneurohypophysitis, necessitating reinitiation of dDAVP. This case highlights the diagnostic complexity of DI in pregnancy and the need to remain vigilant for central causes, even when vasopressinase-mediated DI is initially suspected.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"7536497"},"PeriodicalIF":0.0,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293541","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 NPHS1-Associated Phenotype Characterized by Recurrent Transient Proteinuria. 一种以复发性短暂性蛋白尿为特征的新型nphs1相关表型
Case Reports in Nephrology Pub Date : 2026-06-12 eCollection Date: 2026-01-01 DOI: 10.1155/crin/4258555
Etsuko Tanaka, Takao Konomoto, Hiromi Sakaguchi, Jun Kurogi, Nana Sakakibara, Kandai Nozu, Hiroshi Moritake
{"title":"A Novel NPHS1-Associated Phenotype Characterized by Recurrent Transient Proteinuria.","authors":"Etsuko Tanaka, Takao Konomoto, Hiromi Sakaguchi, Jun Kurogi, Nana Sakakibara, Kandai Nozu, Hiroshi Moritake","doi":"10.1155/crin/4258555","DOIUrl":"10.1155/crin/4258555","url":null,"abstract":"<p><p>We herein report the case of a 2-year-old girl with novel compound heterozygous <i>NPHS1</i> variants, p.R460Q (a known loss-of-function mutation) and p.V822M (a rare variant with reported pathogenicity and relatively mild functional effects). She initially presented with typical features of idiopathic nephrotic syndrome and achieved complete remission on Day 10 of corticosteroid therapy. After tapering, the patient developed recurrent episodes of infection-associated heavy proteinuria, which often remitted spontaneously but sometimes left residual low-grade proteinuria. Despite the introduction of cyclosporine, these episodes continued, and the effect of immunosuppression remained unclear. Over a 4-year follow-up, recurrent transient proteinuria persisted, but no relapse of nephrotic syndrome or renal dysfunction was observed. This atypical clinical pattern, characterized by incomplete remissions and limited response to immunosuppressive therapy, prompted genetic testing, which revealed compound heterozygous <i>NPHS1</i> variants. This case expands the phenotypic spectrum of <i>NPHS1</i>-associated disease, thus highlighting that nephrin variants may manifest as steroid responsiveness, preserved renal function, and repeated transient proteinuria. Our findings emphasize the role of genetic testing in clarifying diagnosis and guiding management in steroid-sensitive nephrotic syndrome with atypical features.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"4258555"},"PeriodicalIF":0.0,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13263401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148249234","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
Bilateral Renal Artery Thrombosis With Distal Abdominal Aortic Dissection as the First Presentation of Takayasu Arteritis. 双侧肾动脉血栓形成伴腹主动脉远端夹层为高松动脉炎的首发表现。
Case Reports in Nephrology Pub Date : 2026-06-02 eCollection Date: 2026-01-01 DOI: 10.1155/crin/2515985
Mihiran Thanigasalan, Mehatheepan Rasanayagam, Mathu Selvarajah
{"title":"Bilateral Renal Artery Thrombosis With Distal Abdominal Aortic Dissection as the First Presentation of Takayasu Arteritis.","authors":"Mihiran Thanigasalan, Mehatheepan Rasanayagam, Mathu Selvarajah","doi":"10.1155/crin/2515985","DOIUrl":"10.1155/crin/2515985","url":null,"abstract":"<p><strong>Background: </strong>Takayasu arteritis (TAK) is a chronic granulomatous large-vessel vasculitis that predominantly affects the aorta and its major branches, leading to stenosis, occlusion, or aneurysmal changes. Renal artery disease is common, but acute bilateral renal artery thrombosis causing renal dysfunction is rare.</p><p><strong>Case presentation: </strong>A 38-year-old South Asian male presented with a two-week history of abrupt-onset bilateral loin pain and severe azotemia (creatinine 8.25 mg/dL). Inflammatory markers were high (ESR 102 mm/h; CRP 45 mg/L). Ultrasound showed preserved renal size; Doppler suggested globally poor bilateral renal perfusion. CT angiography revealed bilateral renal artery thrombosis, mural thickening of the renal arteries, and a distal abdominal aortic dissection extending to the iliac arteries. Infectious, autoimmune, and limited thrombophilia screens were negative. The clinical and radiological constellation was most consistent with TAK, based on imaging evidence of large-vessel vasculitis involving bilateral renal arteries and compatible clinical findings. A multidisciplinary team (nephrology, vascular surgery, and rheumatology) advised anticoagulation due to bilateral renal artery thrombosis despite the distal Type B dissection. He received intravenous methylprednisolone followed by oral prednisolone, with recovery of renal function to 1.8 mg/dL and normalization of inflammatory markers in a month.</p><p><strong>Conclusions: </strong>In young adults presenting with abrupt bilateral renal ischemia and systemic inflammation, TAK should be considered. Early vascular imaging and prompt immunosuppression can preserve renal function. Anticoagulation therapy may be justified in selected cases of thrombosis even in the presence of limited dissection, provided decisions are multidisciplinary and blood pressure is tightly controlled.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2026 ","pages":"2515985"},"PeriodicalIF":0.0,"publicationDate":"2026-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13239311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197316","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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