Case Reports in Nephrology最新文献

Glucose-6-Phosphate Dehydrogenase Deficiency Presenting as Atypical Hemolytic Uremic Syndrome: A Case Series and Literature Review. 葡萄糖-6-磷酸脱氢酶缺乏表现为非典型溶血性尿毒症综合征：一个病例系列和文献综述。

Case Reports in Nephrology Pub Date : 2025-09-25 eCollection Date: 2025-01-01 DOI: 10.1155/crin/1938644

Ghada Almasri, Abdulkarim AlAnazi, Khawla Rahim, Hassan Faqeehi, Sawsan Albatati, Saeed Alzabali

{"title":"Glucose-6-Phosphate Dehydrogenase Deficiency Presenting as Atypical Hemolytic Uremic Syndrome: A Case Series and Literature Review.","authors":"Ghada Almasri, Abdulkarim AlAnazi, Khawla Rahim, Hassan Faqeehi, Sawsan Albatati, Saeed Alzabali","doi":"10.1155/crin/1938644","DOIUrl":"10.1155/crin/1938644","url":null,"abstract":"Atypical hemolytic uremic syndrome (aHUS) is a severe condition marked by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI). It may result from complement gene mutations or be triggered by other underlying conditions. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme that protects red blood cells, and its deficiency can cause hemolytic anemia when triggered by certain factors. We report two cases of children diagnosed with G6PD deficiency who initially presented with clinical features of aHUS. In both cases, young boys developed severe AKI and hemolysis, requiring dialysis and treatment with complement inhibitors. A genetic study identified pathogenic mutations in the G6PD gene. Misdiagnosis delayed appropriate management of their underlying condition, highlighting the importance of considering G6PD deficiency in the differential diagnosis of hemolytic anemia, particularly in pediatric patients from high-risk ethnic backgrounds or those with severe hemolysis. To our knowledge, this is the first reported case series in Saudi Arabia linking G6PD deficiency to clinical presentations of aHUS.","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2025 ","pages":"1938644"},"PeriodicalIF":0.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231638","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

An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15. Barakat综合征的一种不寻常的表现：染色体10p15基因缺失。

Case Reports in Nephrology Pub Date : 2025-09-18 eCollection Date: 2025-01-01 DOI: 10.1155/crin/8837745

Matthew Satariano, Shaarav Ghose, Sergul Erzurum, Erdal Sarac

{"title":"An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15.","authors":"Matthew Satariano, Shaarav Ghose, Sergul Erzurum, Erdal Sarac","doi":"10.1155/crin/8837745","DOIUrl":"10.1155/crin/8837745","url":null,"abstract":"Barakat syndrome, also known as HDR syndrome (HDRS), is an autosomal dominant genetic disease classically characterized by hypoparathyroidism (H), deafness (D), and renal disease (R). Less than 200 patients have been reported in the literature since it was first described in 1977 and has meanwhile been shown to have considerable genotypic variability. Barakat syndrome is usually caused by a mutation or knockout in GATA3, a zinc finger protein found on chromosome 10p14 which plays a role in embryologic formation of the central nervous system, thymus, auditory apparatus, kidney, and parathyroid glands. A spectrum of genetic variances in this gene has been related to HDRS, including both noncoding and coding regions with subsequent point mutations, wild-type protein disturbances, and haploinsufficiency. This case presents a 38-year-old female patient with recurrent urinary infections, hearing loss, and chronic kidney disease who underwent extensive laboratory, radiological, and genetic analysis which demonstrated a GATA3 mutation in the 10p15 location. This specific genetic variability is currently absent on the gnomAD database, highlighting the rarity of the mutation. It is crucial to identify rare presentations of Barakat syndrome to allow for the best management, which often revolves around symptomatic management. HDRS prognosis is often determined by the progression of renal disease and thus should be the primary focus of the physician's care of the patient. This case contributes to the body of literature supporting the unique presentation and genetic variability of Barakat syndrome.","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2025 ","pages":"8837745"},"PeriodicalIF":0.0,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12463541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184696","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

Rapidly Progressive Lupus Nephritis With Concurrent Anti-GBM and ANCA Positivity: A Rare Case Report. 快速进展性狼疮性肾炎并发抗gbm和ANCA阳性：罕见病例报告。

Case Reports in Nephrology Pub Date : 2025-09-09 eCollection Date: 2025-01-01 DOI: 10.1155/crin/4767868

Thi Trinh Cao, Huy Thong Pham, Van Khanh Bui, Thi Mai Huong Nguyen, Van Phuong Ly, Van Dan Bui, Nguyen Hoang Thai, Minh Hoang Nguyen, Hoang Phuong Nguyen

{"title":"Rapidly Progressive Lupus Nephritis With Concurrent Anti-GBM and ANCA Positivity: A Rare Case Report.","authors":"Thi Trinh Cao, Huy Thong Pham, Van Khanh Bui, Thi Mai Huong Nguyen, Van Phuong Ly, Van Dan Bui, Nguyen Hoang Thai, Minh Hoang Nguyen, Hoang Phuong Nguyen","doi":"10.1155/crin/4767868","DOIUrl":"10.1155/crin/4767868","url":null,"abstract":"Background: Rapidly progressive lupus nephritis (LN) with concurrent positivity for anti-glomerular basement membrane (anti-GBM) antibodies and antineutrophil cytoplasmic antibodies (ANCAs) represents an exceptionally rare and severe autoimmune overlap. Early identification and timely intervention are critical to prevent irreversible renal damage. Case Presentation: A 23-year-old woman with systemic lupus erythematosus presented with acute kidney injury, nephrotic-range proteinuria, pancytopenia, and a SLEDAI score of 41. Serologic tests revealed high-titer anti-GBM antibodies and dual ANCA positivity (MPO and PR3) by the ELISA technique. Although the patient experienced mild hemoptysis and a significant drop in hemoglobin, MSCT of pulmonary vasculature and parenchyma did not reveal alveolar hemorrhage or vascular lesions. Due to contraindications to renal biopsy, she was empirically treated with pulse-dose corticosteroids and plasma exchange, followed by oral corticosteroids and mycophenolate mofetil. Anti-GBM antibodies became undetectable after seven sessions. The patient achieved full clinical, biochemical, and renal remission within 2 months. Conclusion: This case highlights the importance of early serologic evaluation and prompt immunosuppressive therapy in rapidly progressive LN with anti-GBM/ANCA overlap, particularly when histopathological confirmation is not feasible.","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2025 ","pages":"4767868"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12440640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079391","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

SGLT2 Inhibitors as a Therapeutic Option for Both Acute and Chronic Refractory Hypomagnesemia in Diabetic and Nondiabetic Patients: A Multicenter Case Series. SGLT2抑制剂作为糖尿病和非糖尿病患者急性和慢性难治性低镁血症的治疗选择：多中心病例系列

Case Reports in Nephrology Pub Date : 2025-09-09 eCollection Date: 2025-01-01 DOI: 10.1155/crin/5615339

Fatima Ayub, Praveen Errabelli, Abedalrahman Almashayekh, Ahmed Abdallah, Md Rajibul Hasan, Manisha Singh, Nithin Karakala, Joseph Hunter Holthoff

{"title":"SGLT2 Inhibitors as a Therapeutic Option for Both Acute and Chronic Refractory Hypomagnesemia in Diabetic and Nondiabetic Patients: A Multicenter Case Series.","authors":"Fatima Ayub, Praveen Errabelli, Abedalrahman Almashayekh, Ahmed Abdallah, Md Rajibul Hasan, Manisha Singh, Nithin Karakala, Joseph Hunter Holthoff","doi":"10.1155/crin/5615339","DOIUrl":"10.1155/crin/5615339","url":null,"abstract":"Sodium-glucose cotransporter 2 (SGLT2) inhibitors are widely used in patients with kidney disease and have been shown to increase serum magnesium levels. Case reports have described their role in correcting hypomagnesemia; however, there is limited evidence regarding their efficacy in patients with renal magnesium wasting. Furthermore, data regarding their role in acute treatment and sustained efficacy to treat hypomagnesemia are lacking. We present a multicenter retrospective, observational case series from two U.S. medical centers describing five patients with refractory hypomagnesemia who experienced significant improvement following initiation of SGLT2 inhibitors. Patients 1-4 showed marked renal magnesium wasting with severe symptomatic hypomagnesemia which responded robustly to SGLT2 inhibitor therapy. Even though Patient 5 did not have renal magnesium wasting, hypomagnesemia still improved with the addition of an SGLT2 inhibitor. Furthermore, the addition of an SGLT2 inhibitor acutely improved the hypomagnesemia of Patients 1 and 2 in an inpatient setting, and Patients 3-5 demonstrated sustained improvement of hypomagnesemia across extended outpatient follow-up. The improvement of hypomagnesemia was irrespective of the diabetic status of the patient. All cases resulted in substantial reduction or cessation of magnesium (Mg) supplementation. These findings suggest a novel therapeutic application of SGLT2 inhibitors for managing intractable hypomagnesemia, both acutely and chronically, regardless of the diabetes being the primary culprit.","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2025 ","pages":"5615339"},"PeriodicalIF":0.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12440649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079430","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 Renal Amyloidosis in a Patient With X-Linked Hyper-IgM Immunodeficiency With Novel Hemizygotic Pathogenic Variant in CD40LG Gene. CD40LG基因新半合子致病性变异的x连锁高igm免疫缺陷患者获得性肾淀粉样变性

Case Reports in Nephrology Pub Date : 2025-09-02 eCollection Date: 2025-01-01 DOI: 10.1155/crin/6664645

Daniel Celis-Giraldo, Deider Steeven García-Villamizar, Camilo Parra-Amaris, Diana Carolina Gutiérrez-González, Daniel Rodríguez-Peralta

引用次数: 0

Acute Tubulointerstitial Nephritis (ATIN) in Patient With Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case Report. 常染色体显性多囊肾病（ADPKD）患者急性小管间质性肾炎（ATIN）： 1例报告。

Case Reports in Nephrology Pub Date : 2025-08-23 eCollection Date: 2025-01-01 DOI: 10.1155/crin/3069446

Mohammad Alsultan, Marwa Kliea, Alaa Aldin Zedan, Qussai Hassan

{"title":"Acute Tubulointerstitial Nephritis (ATIN) in Patient With Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case Report.","authors":"Mohammad Alsultan, Marwa Kliea, Alaa Aldin Zedan, Qussai Hassan","doi":"10.1155/crin/3069446","DOIUrl":"10.1155/crin/3069446","url":null,"abstract":"Background: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by diffuse renal cysts that secrete cytokines, which induce interstitial inflammation and fibrosis. Meanwhile, acute tubulointerstitial nephritis (ATIN) is characterized by inflammatory infiltrates in the interstitium, where kidney biopsy remains the mainstay for diagnosis. Case Presentation: An 85-year-old male complained of fatigue, loss of appetite, and low-grade fever for a week. Within the past month, the patient received ciprofloxacin for a urinary tract infection (UTI) and described flu symptoms. The medical history consisted of ADPKD type 2 with baseline serum creatinine (sCr) at 1.2 mg/dL. Labs showed acute kidney injury (AKI) (sCr = 3.98 mg/dL). The combination of previous drug and infection exposure, systemic symptoms, and AKI suggested the diagnosis of ATIN. The kidney function and clinical status improved with corticosteroids (CS) treatment, where sCr returned to 2.4 mg/dL. Unfortunately, the patient died due to severe community-acquired pneumonia. Conclusion: This case highlighted the dilemma of ATIN diagnosis in a patient with ADPKD and presents the first case of ATIN in ADPKD patients. Kidney biopsy was unable to be performed for ATIN diagnosis in this ADPKD patient due to diffuse renal cysts. Also, the biopsy could be confused by interstitial fibrosis and infiltrates that appeared early in ADPKD biopsies. Clinicians could suggest an ATIN diagnosis and start treatment based on the combination of new-onset AKI aligned with clinical history and laboratory tests in such ADPKD patients. Also, the improvement of kidney function after CS treatment could support the ATIN diagnosis.","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2025 ","pages":"3069446"},"PeriodicalIF":0.0,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144944028","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 Detailed Description of Locally Available Peritoneal Dialysis in a Low-Resource Setting: A Case Report. 低资源环境下局部可用腹膜透析的详细描述：一个病例报告。

Case Reports in Nephrology Pub Date : 2025-07-31 eCollection Date: 2025-01-01 DOI: 10.1155/crin/3680376

Niels Jig Jansen

引用次数: 0

Renal Thrombotic Microangiopathy due to Hypertensive Emergency. 高血压急诊引起的肾血栓性微血管病。

Case Reports in Nephrology Pub Date : 2025-07-16 eCollection Date: 2025-01-01 DOI: 10.1155/crin/5096790

Evan Perona, Matthew Kornas, Adrian G Dumitrascu, Ricardo J Pagan, Tatjana Gavrancic, Melissa P Cortes, Aleksandra Murawska Baptista, Sam T Albadri, Lyle W Baker, Michael Smerina

{"title":"Renal Thrombotic Microangiopathy due to Hypertensive Emergency.","authors":"Evan Perona, Matthew Kornas, Adrian G Dumitrascu, Ricardo J Pagan, Tatjana Gavrancic, Melissa P Cortes, Aleksandra Murawska Baptista, Sam T Albadri, Lyle W Baker, Michael Smerina","doi":"10.1155/crin/5096790","DOIUrl":"10.1155/crin/5096790","url":null,"abstract":"Thrombotic microangiopathy (TMA) is characterized by microvascular thrombosis, microangiopathic hemolytic anemia (MAHA), and thrombocytopenia. TMA can lead to acute kidney injury (AKI) due to the formation of thrombi within the renal microvasculature causing ischemic injury. AKI in the setting of TMA requires early recognition, comprehensive serologic evaluation, and timely intervention due to the risk of irreversible renal damage. Due to many potential causes, both hereditary and acquired, the workup of renal TMA includes analysis of ADAMTS13 activity, genetic testing, and antibody analysis to rule out extraneous etiologies. Ultimately, renal pathology is used to confirm the diagnosis. Recommended treatment of renal TMA is dependent on the underlying etiology and varies from therapeutic plasma exchange and anticomplement therapy to renal replacement therapy and supportive care. This case report highlights an underrecognized cause of renal TMA: hypertensive emergency. Pathological histology imaging of renal tubules can be used to diagnose renal TMA due to evidence of schistocytes and tubular necrosis. Diagnosing TMA can have life-saving consequences as delayed hemodialysis can be fatal. Renal pathological imaging should be an important diagnostic tool when presented with hypertension cases, especially those associated with the aforementioned symptoms. Blood pressure control is the primary focus for management of hypertensive emergency-associated TMA. We present a case of TMA-associated AKI in a hypertensive patient that had a characteristic onion-skin lesion seen on renal pathology.","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":"2025 ","pages":"5096790"},"PeriodicalIF":0.0,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12286664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144697728","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

Steroid-Dependent Nephrotic Syndrome in a Pediatric Patient With Type-1 Diabetes Mellitus. 儿童1型糖尿病患者的类固醇依赖性肾病综合征

Case Reports in Nephrology Pub Date : 2025-07-10 eCollection Date: 2025-01-01 DOI: 10.1155/crin/5532944

Nisha S Singh, Aubree Crabb, Ikuyo Yamaguchi

引用次数: 0

Intravenous Misplacement of the Nephrostomy Catheter Into the Renal Vein Following Percutaneous Nephrolithotomy (PCNL): A Case Report and Literature Review. 经皮肾镜取石术（PCNL）后肾造口导管静脉内错置肾静脉1例报告及文献复习。

Case Reports in Nephrology Pub Date : 2025-05-19 eCollection Date: 2025-01-01 DOI: 10.1155/crin/1229960

Shuah Ullah, Hammad Ur Rehman Shamsi, Ayesha Kamran, Abdullah Ayub, Dania Masood

引用次数: 0