Advances in kidney disease and health最新文献_第3页

Incorporating Genetics Into Nephrology Practice—The New National Kidney Foundation Guidelines for Genetic Testing 将遗传学纳入肾脏病学实践-新的国家肾脏基金会基因检测指南。

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-06-23 DOI: 10.1053/j.akdh.2025.11.003

Becky Mingyao Ma, Nora Franceschini

引用次数: 0

Genetic Nephrotic Syndrome in Children and Adolescents: An Update 儿童和青少年遗传性肾病综合征：最新进展。

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-06-23 DOI: 10.1053/j.akdh.2026.03.006

Jennifer D. Varner , Brandon M. Lane , Rasheed A. Gbadegesin

{"title":"Genetic Nephrotic Syndrome in Children and Adolescents: An Update","authors":"Jennifer D. Varner , Brandon M. Lane , Rasheed A. Gbadegesin","doi":"10.1053/j.akdh.2026.03.006","DOIUrl":"10.1053/j.akdh.2026.03.006","url":null,"abstract":"<div><div>Idiopathic nephrotic syndrome is one of the most common glomerular diseases in children and adolescents. Monogenic nephrotic syndrome is associated with lower rates of remission following treatment with standard immunosuppressive therapies and a higher risk of progression to end-stage kidney disease. Advances in genetic testing technologies have identified more than 100 single-gene causes of nephrotic syndrome and made genetic testing more accessible in clinical practice. The vast majority of genes implicated in the etiology of nephrotic syndrome are associated with the glomerular filtration barrier and primarily with the podocyte. A molecular diagnosis of nephrotic syndrome has implications for medication choice, prognostication, indications for further testing, and transplant planning. Like all clinical tools, however, it must be utilized in the appropriate clinical context, though no standardized guidelines exist for indications for genetic testing in nephrotic syndrome. Standard treatment of nephrotic syndrome consists of immunosuppressive therapies. However, patients with monogenic nephrotic syndrome are less likely to achieve remission with immunosuppression, and alternative treatment options are under investigation.</div></div>","PeriodicalId":72096,"journal":{"name":"Advances in kidney disease and health","volume":"33 1","pages":"Pages 48-70"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Autosomal Dominant Tubulointerstitial Kidney Disease: Approach to Diagnosis 常染色体显性小管间质肾病的诊断方法。

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-05-22 DOI: 10.1053/j.akdh.2026.04.003

Dervla M. Connaughton, Monica Arnaldi, Kendrah O. Kidd, Anthony J. Bleyer

{"title":"Autosomal Dominant Tubulointerstitial Kidney Disease: Approach to Diagnosis","authors":"Dervla M. Connaughton, Monica Arnaldi, Kendrah O. Kidd, Anthony J. Bleyer","doi":"10.1053/j.akdh.2026.04.003","DOIUrl":"10.1053/j.akdh.2026.04.003","url":null,"abstract":"<div><div>Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a genetically heterogeneous disorder characterized by progressive chronic kidney disease, primarily affecting the tubules and interstitium. It results from pathogenic variants in several known genes, including <em>UMOD</em>, mucin-1 (<em>MUC1</em>), <em>REN</em>, <em>APOA4</em>, and others. Despite its clinical significance, ADTKD is often under-recognized due to nonspecific histopathological and clinical features and limited referral for genetic testing, which remains the gold standard for diagnosis. In addition, due to technical difficulties, genetic testing for ADTKD-<em>MUC1</em> is not currently performed in multigene panels and cannot be obtained through whole exome or genome sequencing. Recent advances in kidney disease research underscore the critical role of comprehensive genetic testing in elucidating the molecular etiology of unsolved cases. However, challenges persist in the diagnosis of specific ADTKD subtypes, particularly those caused by pathogenic <em>MUC1</em> pathogenic variants. This review provides a detailed analysis of the genetic basis, clinical presentation, and diagnostic approaches for ADTKD, with an emphasis on the limitations in current testing methodologies for ADTKD-<em>MUC1</em>. We further explore recent advancements in our understanding of ADTKD and highlight future directions for improving diagnostic accuracy and patient care through enhanced genetic testing technologies.</div></div>","PeriodicalId":72096,"journal":{"name":"Advances in kidney disease and health","volume":"33 1","pages":"Pages 37-47"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148007666","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

Genetic and Clinical Evaluation of Pediatric Cystic Kidney Diseases: Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease 小儿囊性肾病的遗传和临床评价：常染色体显性和常染色体隐性多囊性肾病。

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-06-23 DOI: 10.1053/j.akdh.2026.03.003

Chloe Borden, Katherine M. Dell

{"title":"Genetic and Clinical Evaluation of Pediatric Cystic Kidney Diseases: Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease","authors":"Chloe Borden, Katherine M. Dell","doi":"10.1053/j.akdh.2026.03.003","DOIUrl":"10.1053/j.akdh.2026.03.003","url":null,"abstract":"<div><div>Cystic kidney diseases are an important cause of pediatric morbidity and mortality. Most genetic cystic kidney diseases are “ciliopathies”, a group of disorders that share a common feature of abnormal structure or function of the primary cilia. Ciliopathies represent a broad range of clinically and genetically heterogenous disorders, which affect multiple organ systems. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the 2 most common etiologies, affecting 1:1000-2500 and 1:20,000-40,000 individuals, respectively. Although historically referred to as “adult” (ADPKD) and “infantile” (ARPKD) polycystic kidney disease, it is now understood that age at presentation is variable. Approximately 3% of ADPKD patients present with very early onset, severe features that mimic (“phenocopy”) typical ARPKD. Similarly, a minority of ARPKD cases present as late as young adulthood. Due to their heterogeneity, ADPKD, ARPKD, and other phenocopies, such as hepatocyte nuclear factor-1 beta-associated kidney disease, can be difficult to distinguish clinically, making molecular genetic testing a valuable diagnostic resource. The purpose of this review is to provide a comprehensive overview of the clinical and genetic spectrum and molecular diagnosis of cystic kidney diseases in children, with a specific focus on ADPKD and ARPKD.</div></div>","PeriodicalId":72096,"journal":{"name":"Advances in kidney disease and health","volume":"33 1","pages":"Pages 27-36"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304302","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

Complement 3 Glomerulopathy Revisited: Bridging Pathogenesis and Therapy in the New Era 补体3肾小球病：新时代的桥接发病机制和治疗。

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-02-11 DOI: 10.1053/j.akdh.2025.12.001

Federico Yandian, Fernando C. Fervenza, Fernando Caravaca-Fontán

{"title":"Complement 3 Glomerulopathy Revisited: Bridging Pathogenesis and Therapy in the New Era","authors":"Federico Yandian, Fernando C. Fervenza, Fernando Caravaca-Fontán","doi":"10.1053/j.akdh.2025.12.001","DOIUrl":"10.1053/j.akdh.2025.12.001","url":null,"abstract":"<div><div>Complement 3 glomerulopathy is a rare and highly heterogeneous complement-mediated kidney disease characterized by the aberrant deposition of complement components in the glomeruli, triggering inflammation and contributing to progressive kidney function impairment. Despite recent advancements in understanding complement 3 glomerulopathy pathophysiology, therapeutic options remain limited. Current treatments often fail to prevent poor outcomes, with 30-50% of adult patients progressing to kidney failure and high rates of disease recurrence following kidney transplantation. Genetic studies have revealed that variants in complement regulators and effectors contribute to disease susceptibility in a subset of patients, although autoantibody-driven mechanisms account for most cases. Encouraging results from recent clinical trials provide hope for improving the overall prognosis of this entity, yet critical knowledge gaps persist. This review explores the heterogeneity of complement 3 glomerulopathy and examines the emerging therapeutic landscape, highlighting advancements in the management of this complex condition.</div></div>","PeriodicalId":72096,"journal":{"name":"Advances in kidney disease and health","volume":"33 1","pages":"Pages 78-91"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146159537","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

Collagen Genes–Related Glomerular Disease 胶原蛋白基因相关的肾小球疾病

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-06-23 DOI: 10.1053/j.akdh.2026.02.001

Grainne Butler, Cathy Quinlan, Michelle N. Rheault

引用次数: 0

The Use of Genetic Testing in the Management and Treatment of Kidney Stones 基因检测在肾结石管理和治疗中的应用。

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-06-23 DOI: 10.1053/j.akdh.2026.03.001

Trisha Laxamana, Niveda Shekar, David S. Goldfarb

引用次数: 0

Integrating Genetics Into Nephrology Practice: A New Standard of Care? 将遗传学纳入肾脏病实践：一种新的护理标准？

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-06-23 DOI: 10.1053/j.akdh.2026.03.007

Xiangling Wang, Anthony Bleyer, Neera Dahl

引用次数: 0

After the Diagnosis 诊断后。

IF 3.1

Advances in kidney disease and health Pub Date : 2026-01-01 Epub Date: 2026-06-23 DOI: 10.1053/j.akdh.2026.02.004

Anthony J. Bleyer, Stanislav Kmoch

{"title":"After the Diagnosis","authors":"Anthony J. Bleyer, Stanislav Kmoch","doi":"10.1053/j.akdh.2026.02.004","DOIUrl":"10.1053/j.akdh.2026.02.004","url":null,"abstract":"<div><div>The diagnosis of a rare genetic disease begins an odyssey toward treatment and cure for patients, clinicians, and researchers. Even though a treatment may not have been identified, there are many ways in which the clinician can help the patient. Information available to patients and their participation in research is dependent on how many individuals have previously been diagnosed with the condition and how much prior research has been conducted. When only a few cases have been reported, information will be limited to case reports, and each newly diagnosed patient is critical to learning about the disease. As more information becomes available, patient foundations form and researchers develop a long-term interest in the condition. In addition to informing the patient about diagnosis, prognosis, and the genetics of the underlying condition, clinicians should also help to guide the patient toward patient foundations and provide information about research participation to help better characterize the condition and find treatments. In rare disease research, each patient is important in providing clinical information as well as genetic and other biological samples for study. Researchers take this information provided by patients, analyze the data, and provide patients information about their condition. As patients and researchers work together, progress in research occurs, eventually leading to a treatment. The clinician, patient, clinical researcher, and basic scientist are all critical to success toward a potential therapy.</div></div>","PeriodicalId":72096,"journal":{"name":"Advances in kidney disease and health","volume":"33 1","pages":"Pages 9-14"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304172","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

Resilience: An Acquired Skill in Nephrology. 恢复力：肾脏病学的一项后天技能。

IF 2.6

Advances in kidney disease and health Pub Date : 2025-11-01 DOI: 10.1053/j.akdh.2026.01.002

Charuhas V Thakar

引用次数: 0