Communicating Risk Alleles in Kidney Genes: Lessons from APOL1 and New Discoveries of Risk Alleles [0.03%]
肾脏风险基因的交流：来自APOL1和新发现的风险等位基因的启示
Yasar Caliskan,Ana Iltis,Janewit Wongboonsin et al.
Yasar Caliskan et al.
Effective communication of genetic risk alleles, particularly APOL1 renal risk variants, is essential for enhancing patient comprehension, guiding clinical decision-making, and ensuring equitable health care. This review explores the commun...
Janewit Wongboonsin,Andrew J Mallett
Janewit Wongboonsin
Fiona E Karet Frankl
Fiona E Karet Frankl
Suspecting that a patient has an inherited renal tubular disorder usually involves a mixture of listening to their story, asking the right questions, looking at the whole patient and their context, examining components of blood and urine, a...
Beyond Kidney Genes: Broad Clinical Implications of Genetic Testing for Nephrology Patients [0.03%]
超越肾脏基因：遗传学检测在肾病患者中的广泛应用及其临床意义
Naama Elefant,Maddalena Marasà,Hila Milo Rasouly
Naama Elefant
Genetic testing in nephrology is evolving beyond diagnosis of kidney diseases to significantly influence broader patient care. This review evaluates the expanding role of genetic information in nephrology practice. We compare various testin...
Utility of Genetic Information for Management in Kidney Transplantation and Living Donation [0.03%]
基因信息在肾脏移植和活体捐献管理中的应用价值
Yasar Caliskan,Christie P Thomas
Yasar Caliskan
Kidney transplantation is the best treatment for kidney failure in eligible patients, significantly improving survival and quality of life. While short-term post-transplant survival has improved, long-term outcomes remain limited. Advances ...
Dervla M Connaughton,Andrew J Mallett
Dervla M Connaughton
Genetic testing holds great potential to enhance the diagnosis and management of kidney disease, yet its integration into routine nephrology care remains limited and often delayed. Despite strong evidence supporting its clinical utility and...
Matthew B Lanktree,Shaymaa Shurrab,Resham Ejaz et al.
Matthew B Lanktree et al.
The importance of genetics and genomics in general nephrology has rapidly ascended within the last decade. While the genetic literacy of all nephrologists must improve, there is a particular need to develop the next generation of leaders an...
Vanessa Gitau,Julie Ratliff,Ryan Webb et al.
Vanessa Gitau et al.
Genomic sequencing technologies are used in diagnostic laboratories to identify genetic causes of disease in patients. Gene curation plays an integral role by determining which genes have sufficient evidence for inclusion in diagnostic pane...
Gene-Environment Interaction: Lessons From Complement-Mediated Kidney Disease [0.03%]
补体介导的肾脏疾病中的基因-环境相互作用：经验与启示
Nattawat Klomjit,Jing Miao,Anuja Java
Nattawat Klomjit
Atypical hemolytic uremic syndrome (aHUS) or complement-mediated thrombotic microangiopathy (CM-TMA) and C3 glomerulopathy are two prototypical diseases of complement dysregulation occurring due to genetic variants in complement proteins or...
Janewit Wongboonsin,Asheeta Gupta,Catherine Quinlan
Janewit Wongboonsin
Glomerular disease significantly contributes to chronic kidney disease worldwide, affecting both pediatric and adult patients. Traditionally, clinical evaluation and kidney biopsy have been the gold standards for accurately diagnosing glome...