Clinical nephrology. Case studies最新文献

筛选
英文 中文
Rapidly progressive glomerulonephritis revealing the coexistence of diabetic nephropathy, membranous nephropathy, and MPO-ANCA-associated crescentic glomerulonephritis. 快速进展的肾小球肾炎显示糖尿病肾病、膜性肾病和mpo - anca相关性月牙状肾小球肾炎共存。
Clinical nephrology. Case studies Pub Date : 2026-10-13 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS112223
Sarra Hadded, Rania Kandil, Hanene Gaied, Marwa Trabelsi, Raja Aoudia, Meriam Khadhar, Mouna Jerbi, Rim Goucha
{"title":"Rapidly progressive glomerulonephritis revealing the coexistence of diabetic nephropathy, membranous nephropathy, and MPO-ANCA-associated crescentic glomerulonephritis.","authors":"Sarra Hadded, Rania Kandil, Hanene Gaied, Marwa Trabelsi, Raja Aoudia, Meriam Khadhar, Mouna Jerbi, Rim Goucha","doi":"10.5414/CNCS112223","DOIUrl":"https://doi.org/10.5414/CNCS112223","url":null,"abstract":"<p><p>Diabetic nephropathy (DN) is the leading cause of chronic kidney disease worldwide. However, Patients with diabetes presenting with atypical renal manifestations may harbor superimposed non-diabetic kidney disease, making kidney biopsy essential for accurate diagnosis. Although cases of DN coexisting with either membranous nephropathy (MN) or MPO-ANCA-associated vasculitis have been reported, the concurrent occurrence of all three entities is exceptionally rare. We report the case of a 59-year-old man with a 20-year history of poorly controlled type 2 diabetes mellitus, diabetic retinopathy, hypertension, and chronic kidney disease attributed to DN, who presented with rapidly progressive kidney dysfunction. Serum creatinine increased from a baseline of ~ 220 to 560 μmol/L, accompanied by nephrotic-range proteinuria (9 g/day) and microscopic hematuria. Immunological testing demonstrated strongly positive MPO-ANCA (120 U/mL by ELISA), whereas PR3-ANCA, anti-glomerular basement membrane, antinuclear, and anti-phospholipase A2 receptor antibodies were negative. Kidney biopsy demonstrated nodular diabetic glomerulosclerosis, membranous nephropathy, and pauci-immune crescentic glomerulonephritis consistent with MPO-ANCA-associated vasculitis. Treatment with intravenous methylprednisolone, oral prednisone, and two 1-g infusions of rituximab resulted in partial recovery of kidney function, allowing discontinuation of temporary hemodialysis and stabilization of serum creatinine at ~ 300 μmol/L. This case highlights the indispensable role of kidney biopsy in diabetic patients with rapidly progressive kidney dysfunction and illustrates the diagnostic and therapeutic implications of identifying multiple coexisting glomerular diseases.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"69-74"},"PeriodicalIF":0.0,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13681067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149241144","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
New-onset lupus nephritis and neuropsychiatric lupus following COVID-19 vaccination: A case report. 新冠肺炎疫苗接种后新发狼疮肾炎及神经精神性狼疮1例
Clinical nephrology. Case studies Pub Date : 2026-09-10 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS112003
Paulo Simão, Micael Pompermayer, Joana Coutinho, Ernesto Rocha
{"title":"New-onset lupus nephritis and neuropsychiatric lupus following COVID-19 vaccination: A case report.","authors":"Paulo Simão, Micael Pompermayer, Joana Coutinho, Ernesto Rocha","doi":"10.5414/CNCS112003","DOIUrl":"10.5414/CNCS112003","url":null,"abstract":"<p><p>Although COVID-19 mRNA vaccines have demonstrated excellent safety profiles, rare autoimmune complications - including new-onset systemic lupus erythematosus (SLE) and lupus nephritis (LN) - have been reported. We describe a case of new-onset class IV LN with neuropsychiatric lupus (NPSLE) occurring shortly after COVID-19 vaccination in a previously healthy adult. This case highlights a rare presentation of new-onset SLE manifesting with both severe renal and neuropsychiatric involvement following COVID-19 mRNA vaccination. While causality cannot be established, the temporal association and absence of alternative triggers suggest vaccine-induced immune dysregulation as a potential precipitating factor. Awareness of such atypical presentations may facilitate earlier diagnosis and management, although these events remain exceedingly uncommon relative to the overwhelming benefits of vaccination.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"63-68"},"PeriodicalIF":0.0,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13621268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of lupus nephritis in an art student. 一个艺术系学生的狼疮肾炎病例。
Clinical nephrology. Case studies Pub Date : 2026-09-07 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS111758
Kamyar Pournazari, Adrienne Flowers, Sarah H Khan, Cinthia Drachenberg, Valeriu Cebotaru
{"title":"A case of lupus nephritis in an art student.","authors":"Kamyar Pournazari, Adrienne Flowers, Sarah H Khan, Cinthia Drachenberg, Valeriu Cebotaru","doi":"10.5414/CNCS111758","DOIUrl":"10.5414/CNCS111758","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a complex autoimmune disease that can be triggered by environmental factors. We report a novel case of a 22-year-old female that was exposed to volatile organic solvents (VOCs) while diluting oil-based paint colors prior to presenting with nephrotic syndrome and acute kidney injury, later confirmed as class IV lupus nephritis (LN). Multidisciplinary management resulted in significant clinical improvement, with a return to normal renal function and stabilization of SLE markers. This case highlights possible association between VOCs exposure and LN.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"58-62"},"PeriodicalIF":0.0,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13621270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083388","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
Medium cut-off hemodialysis in multiple myeloma-associated cast nephropathy: A single-center experience. 中度切断血液透析治疗多发性骨髓瘤相关性铸型肾病:单中心研究
Clinical nephrology. Case studies Pub Date : 2026-08-18 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS112077
Ana Rita Ramos, Marisa Roldão, Rita Valério Alves, Rachele Escoli, Paulo Santos
{"title":"Medium cut-off hemodialysis in multiple myeloma-associated cast nephropathy: A single-center experience.","authors":"Ana Rita Ramos, Marisa Roldão, Rita Valério Alves, Rachele Escoli, Paulo Santos","doi":"10.5414/CNCS112077","DOIUrl":"https://doi.org/10.5414/CNCS112077","url":null,"abstract":"<p><strong>Background: </strong>Myeloma cast nephropathy (CN) is a severe complication of multiple myeloma and a frequent cause of dialysis-dependent acute kidney injury (AKI). High circulating free light chains (FLC) contribute to tubular injury, and strategies aimed at accelerating their reduction have been proposed. Medium cut-off (MCO) membranes allow enhanced clearance of middle molecules, including FLC. Clinical data regarding their implementation in routine practice remain limited. The aim of this study was to describe our institutional experience following the introduction of MCO hemodialysis in patients with dialysis-dependent CN.</p><p><strong>Materials and methods: </strong>We conducted a retrospective single-center case series including consecutive patients treated between February 2024 and December 2025. Eligible patients had dialysis-dependent AKI due to presumed or biopsy-proven CN and were managed according to a predefined protocol combining anti-myeloma therapy and intensive MCO hemodialysis (Theranova 500), consisting of eight 6-hour sessions within the first 10 days when clinically feasible. Serum FLC levels were measured before each session.</p><p><strong>Results: </strong>Six patients were included. Baseline FLC levels ranged from 1,550 to 30,000 mg/L. A marked early decline in circulating FLC was observed during the intensive MCO phase, with 4 patients achieving > 80% reduction. Treatment interruptions due to clinical instability, frequently associated with infectious complications, occurred in several cases. Renal trajectories were heterogeneous, and dialysis independence was achieved in 3 patients.</p><p><strong>Conclusion: </strong>This case series describes the real-world implementation of MCO hemodialysis in dialysis-dependent CN. Although substantial early FLC reduction was observed, renal recovery varied and appeared to be influenced by multiple clinical factors.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"51-57"},"PeriodicalIF":0.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13492039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148804234","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
Giant mesenteric cyst of mesothelial origin as a rare late complication of previous peritoneal dialysis during hemodialysis. 源自间皮的巨大肠系膜囊肿是先前腹膜透析的罕见晚期并发症。
Clinical nephrology. Case studies Pub Date : 2026-05-29 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS112023
Sarra Hadded, Chayma Soltani, Wael Ferjaoui, Yosra Ben Ariba, Jannet Laabidi
{"title":"Giant mesenteric cyst of mesothelial origin as a rare late complication of previous peritoneal dialysis during hemodialysis.","authors":"Sarra Hadded, Chayma Soltani, Wael Ferjaoui, Yosra Ben Ariba, Jannet Laabidi","doi":"10.5414/CNCS112023","DOIUrl":"10.5414/CNCS112023","url":null,"abstract":"<p><p>Mesenteric cysts are uncommon benign abdominal lesions with no specific clinical features. Their occurrence during hemodialysis is exceptional. We report the case of a 22-year-old patient who had been treated with peritoneal dialysis for 2 years and was subsequently transferred to hemodialysis because of refractory peritonitis. Three years later, he presented with a progressive abdominal distension caused by a large mass extending from the epigastric to the pelvic region. Exploratory laparoscopy revealed a giant cystic lesion occupying the entire peritoneal cavity. Complete surgical excision was performed. Histopathological examination confirmed a benign mesenteric cyst of mesothelial origin. This rare complication may be associated with previous peritoneal dialysis, recurrent peritonitis, and a chronic inflammatory state.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"46-50"},"PeriodicalIF":0.0,"publicationDate":"2026-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13227572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148159892","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
Co-prescription of metformin and glucagon-like peptide-1 receptor agonists and metformin-associated lactic acidosis: A case series. 二甲双胍和胰高血糖素样肽-1受体激动剂的联合处方和二甲双胍相关的乳酸酸中毒:一个病例系列。
Clinical nephrology. Case studies Pub Date : 2026-05-18 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS111965
Hamed Hussain, Mustafa Ali, Koravich Lorlowhakarn, Maria Christina Capistrano, Vaidyanathapuram S Balakrishnan, Bertrand L Jaber
{"title":"Co-prescription of metformin and glucagon-like peptide-1 receptor agonists and metformin-associated lactic acidosis: A case series.","authors":"Hamed Hussain, Mustafa Ali, Koravich Lorlowhakarn, Maria Christina Capistrano, Vaidyanathapuram S Balakrishnan, Bertrand L Jaber","doi":"10.5414/CNCS111965","DOIUrl":"10.5414/CNCS111965","url":null,"abstract":"<p><p>Metformin-associated lactic acidosis (MALA) is a rare phenomenon mostly described in the setting of impaired renal elimination or following an acute overdose. While metformin is first-line treatment for type 2 diabetes mellitus, glucagon-like peptide-1 (GLP-1) receptor agonists and glucose-dependent insulinotropic polypeptide (GIP) and GLP-1 dual receptor agonists are frequent add-on agents. Both classes of medications share common gastrointestinal adverse reactions, including decreased appetite, nausea, vomiting, and abdominal pain. We present a series of four critically ill patients with type 2 diabetes mellitus on high-dose metformin who presented with severe MALA following the introduction or dose escalation of a GLP-1 or GIP/GLP-1 dual receptor agonist, or during an acute gastrointestinal illness while also on a maintenance dose of a GLP-1 receptor agonist, requiring acute renal replacement therapy. Prudence must be exercised when co-prescribing these 2 classes of medications with close monitoring of kidney function, possible reduction in metformin dose, and emphasis on sick day rule teaching.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"39-45"},"PeriodicalIF":0.0,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13185473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147984873","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 patient with Sagliker syndrome who underwent parathyroidectomy: A case report and literature review. Sagliker综合征患者行甲状旁腺切除术:1例报告及文献复习。
Clinical nephrology. Case studies Pub Date : 2026-05-11 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS111888
Jianping Ren, Xinyu Li, Baoyu Zhao, Deguang Wang, Xuerong Wang
{"title":"A patient with Sagliker syndrome who underwent parathyroidectomy: A case report and literature review.","authors":"Jianping Ren, Xinyu Li, Baoyu Zhao, Deguang Wang, Xuerong Wang","doi":"10.5414/CNCS111888","DOIUrl":"10.5414/CNCS111888","url":null,"abstract":"<p><strong>Background: </strong>Sagliker syndrome (SS) is a rare yet severe complication of end-stage renal disease that is predominantly observed in patients who have undergone prolonged hemodialysis and develop secondary hyperparathyroidism (SHPT). SS is characterized by progressive craniofacial and maxillofacial bone deformities, such as mandibular widening, increased interdental spacing, and neuropsychiatric symptoms including anxiety, depression, and cognitive dysfunction. These manifestations significantly impair the quality of life of affected individuals.</p><p><strong>Case report: </strong>We report the case of a 42-year-old woman undergoing regular hemodialysis who was diagnosed with SHPT and SS. The patient was admitted to the hospital with a 3-year history of skeletal deformity. On December 29, 2012, she underwent total parathyroidectomy (PTx) with some parathyroid tissue transplanted to the left forearm. Over 12 years of regular follow-up, we found that clinical symptoms, such as facial deformity and bone pain, and laboratory indicators, including corrected serum calcium and phosphorus levels, significantly improved. Amazingly, the skull, which was altered in a \"salt and pepper\" pattern, improved significantly.</p><p><strong>Conclusion: </strong>After PTx in patients with SS, clinical symptoms and related laboratory indicators can be significantly improved, which is conducive to enhancing patient prognosis. Therefore, PTx should be performed in such patients as early as possible. However, further research is needed to develop a more standardized treatment plan for SS.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"30-38"},"PeriodicalIF":0.0,"publicationDate":"2026-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13162743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147936938","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
Late-onset recurrent lupus nephritis in a kidney transplant recipient. 肾移植受者迟发性复发性狼疮性肾炎。
Clinical nephrology. Case studies Pub Date : 2026-05-11 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS111897
Jessica K Cobb, Paul Endres, Prashamsa Shenoy, Edward J Filippone, Maitreyee Gupta, Rakesh Gulati
{"title":"Late-onset recurrent lupus nephritis in a kidney transplant recipient.","authors":"Jessica K Cobb, Paul Endres, Prashamsa Shenoy, Edward J Filippone, Maitreyee Gupta, Rakesh Gulati","doi":"10.5414/CNCS111897","DOIUrl":"10.5414/CNCS111897","url":null,"abstract":"<p><p>Long-term kidney allograft survival continues to be a challenge, despite improvements in the short term. Recurrence of glomerular disease is a significant cause of allograft failure. We report a case of graft dysfunction 27 years post transplant attributed to biopsy-proven recurrent class IV lupus nephritis. Following targeted medication adjustments aimed at treating lupus nephritis, the patient achieved complete remission within 6 months, which has been sustained for 4 years. Although recurrent lupus nephritis is reported to occur up to 16 years after transplantation, it is uncommon, and represents a potentially treatable cause of graft failure. This report underscores the critical need for heightened awareness and prompt management of recurrent lupus nephritis regardless of the time post transplant to enhance long-term allograft survival. Furthermore, our case highlights that positive allograft staining in peritubular capillaries for C4d may result from recurrent immune-complex disease as opposed to antibody-mediated rejection.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"24-29"},"PeriodicalIF":0.0,"publicationDate":"2026-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13162742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147936882","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
From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. 从Usher综合征到Bardet-Biedl综合征:非典型表现后的诊断。
Clinical nephrology. Case studies Pub Date : 2026-03-31 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS111975
Joaquim Milheiro, Raquel Pinto, Catarina Veiga, Adriana Dias, Cátia Pêgo, Sérgio Lemos
{"title":"From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation.","authors":"Joaquim Milheiro, Raquel Pinto, Catarina Veiga, Adriana Dias, Cátia Pêgo, Sérgio Lemos","doi":"10.5414/CNCS111975","DOIUrl":"10.5414/CNCS111975","url":null,"abstract":"<p><p>Syndromic associations of kidney and ophthalmological diseases are not typical in the young adult. The most common kidney manifestations are malformations of the genitourinary apparatus, while some syndromes can also present with kidney parenchymal disease. We report on a 51-year-old woman evaluated in the nephrology clinic for 12 months due to abnormal kidney function. She had been diagnosed with Usher syndrome due to the development of retinitis pigmentosa and sensorineural hearing loss in the last 20 years, without genetic testing. She had a family history of parental consanguinity, and disperse cardiac disease, congenital malformations, and congenital deafness. For chronic kidney disease of unknown etiology, a kidney biopsy was performed which revealed focal segmental glomerulosclerosis (FSGS) of the perihilar variant. This diagnosis prompted genetic testing that identified a mutation on gene SDCCAG8: c.397G>T, known for causing Bardet-Biedl type 16 and Senior-Løken type 7 syndromes. This case of perihilar FSGS is atypical in the setting of a ciliopathy and absence of metabolic or cardiovascular risk. Though urinary tract malformations and kidney disease can be expected, glomerular disease is not described in the literature. Genetic syndromic diagnoses require genetic screening due to the overlap of different symptoms and variable penetrance. The diagnosis of genetic diseases requires a high degree of suspicion, especially when the phenotype of the kidney disease is unusual. Identification of variants can help identify individuals who can benefit from genetic counseling.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"19-23"},"PeriodicalIF":0.0,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13045643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147625145","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
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review. 青少年肝功能障碍、高尿酸血症和多发肾囊肿:HNF1B缺乏1例报告并文献复习
Clinical nephrology. Case studies Pub Date : 2026-03-25 eCollection Date: 2026-01-01 DOI: 10.5414/CNCS111652
Yue Yang, Ziyan Shen, Li Zhang, Wei Guo, Shaomin Gong, Jieru Cai, Jiayi Wang, Shuangxin Yuan, Xiaoqiang Ding, Xiaoyan Zhang
{"title":"Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review.","authors":"Yue Yang, Ziyan Shen, Li Zhang, Wei Guo, Shaomin Gong, Jieru Cai, Jiayi Wang, Shuangxin Yuan, Xiaoqiang Ding, Xiaoyan Zhang","doi":"10.5414/CNCS111652","DOIUrl":"10.5414/CNCS111652","url":null,"abstract":"<p><strong>Background: </strong>17q12 microdeletion syndrome is a rare genetic disorder distinguished by diabetes, urogenital abnormalities, pancreatic hypoplasia, and neuropsychiatric developmental anomalies, with hyperuricemia being an infrequent occurrence. We present a unique case of 17q12 microdeletion, encompassing 17 protein-coding genes such as HNF1B, AATF, and DDX52 (3A:0), marking the first documented instance globally.</p><p><strong>Case report: </strong>An 18-year-old female patient was hospitalized due to persistent right upper abdominal pain for more than a month. She exhibited a normal body mass index and no familial medical history. Biochemical analysis indicated liver impairment, hyperlipidemia, hypomagnesemia, hyperuricemia, and glucose intolerance. Renal ultrasound displayed numerous renal cysts, while a liver biopsy confirmed the presence of non-alcoholic fatty liver disease. Given the early onset of metabolic syndrome, whole-exome sequencing (WES) was conducted on the patient and her parents.</p><p><strong>Results: </strong>By WES and copy number variation verification, the patient was identified as having a de novo heterozygous deletion of one copy in the 17q12 region (34807034-36285028), encompassing 17 protein-coding genes including HNF1B, AATF, and DDX52 (3A:0). Tubulointerstitial lesions are the predominant feature of HNF1B-related renal disease, with hyperuricemia showing limited predictive value despite its common occurrence. Hypomagnesemia is a significant clinical indicator in HNF1B mutation-related conditions.</p><p><strong>Conclusion: </strong>Hyperuricemia, hypomagnesemia, and multiple renal cysts can manifest as renal symptoms of the microdeletion in the 17q12 region, with the spectrum of extra-renal manifestations continually expanding. For young patients exhibiting the above metabolic issues, WES is recommended for precise diagnosis.</p>","PeriodicalId":510898,"journal":{"name":"Clinical nephrology. Case studies","volume":"14 ","pages":"11-18"},"PeriodicalIF":0.0,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13037456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147596816","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书