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Introduction: Diagnostic genomic sequencing is the emerging standard of care in nephrology. There is a growing need to scale up the implementation of genomic diagnostics nationally to improve patient outcomes.
Methods: This pragmatic study provided genomic or genetic testing to patients with suspected monogenic kidney disease through a national network of kidney genetics clinics (KGCs). We sought to evaluate the experiences of implementing genomic diagnostics across Australia and associated diagnostic outcomes between 2013 and 2022.
Results: We successfully established and expanded a nationwide network of 20 clinics as of 2022; concurrently developing laboratory, research, and education programs to scale the clinical application of genomics in nephrology. We report on an Australian cohort of 1506 kidney patients, of whom 1322 received their test results. We assessed barriers to implementation in the nephrology context, and where possible, applied real-time solutions to improve clinical processes over 10 years.
Conclusion: Developing a multidisciplinary kidney genetics model across multiple health services nationally was highly successful. This model supported optimal care of individuals with monogenic kidney disease in an economically responsible way. It has continued to evolve with technological and service developments and is now set to scale further as genomic testing for kidney patients transitions to health care system funding.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11328548 | PMC |
http://dx.doi.org/10.1016/j.ekir.2024.04.068 | DOI Listing |
Zhong Nan Da Xue Xue Bao Yi Xue Ban
May 2025
Department of Nephropathy and Rheumatology, Third Xiangya Hospital, Central South University, Changsha 410013.
Dent disease is a rare X-linked recessive inherited renal tubular disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, and other clinical features, and can lead to progressive renal failure. It is primarily caused by mutations in the gene. This article reports the case of a 10-year-old male patient of Chinese descent who was incidentally found to have asymptomatic proteinuria during a routine health examination.
View Article and Find Full Text PDFMed Sci Monit Basic Res
August 2025
First Clinical Medical College, Hubei University of Chinese Medicine, Wuhan, Hubei, China.
BACKGROUND This study aims to explore the therapeutic mechanisms of Jinshuiqing (JSQ) in IgA nephropathy (IgAN) using transcriptomic analysis and animal experimentation. MATERIAL AND METHODS Six-week-old male C57BL/6 mice (20±2 g) were divided into 2 groups: IgAN model and JSQ-treated. The IgAN model was induced in SIRT3 knockout mice with acidified BSA, CCl4, castor oil, and LPS injections.
View Article and Find Full Text PDFNan Fang Yi Ke Da Xue Xue Bao
August 2025
Key Laboratory of Occupational Environment and Health, Guangzhou Twelfth People's Hospital, Guangzhou 510620, China.
Objectives: To investigate the role of ferroptosis in diquat-induced acute kidney injury (AKI) and its molecular mechanisms.
Methods: Transgenic zebrafish models with Tg (Eco.Tshb:EGFP) labeling of the renal tubules and Tg (lyz:dsRed2) labeling of the neutrophils were both divided into control group, gentamicin (positive control) group, diquat poisoning group, ferroptosis inhibitor group.
Ren Fail
December 2025
Department of Nephrology, China-Japan Friendship Hospital, Beijing, China.
Objectives: In this study, we explored the mechanism by which DDIT4 influences the polarization phenotypic transformation of macrophages and inflammation through the regulation of mTOR signaling pathway, providing a new mechanism and target for the treatment of diabetic nephropathy.
Methods: The degree of inflammation and injury in renal tissues of diabetic kidney disease (DKD) animal model was evaluated using biochemical assays, renal pathology examinations, and Western blot tests. Podocytes and macrophages were isolated from renal tissues to observe the extent of podocyte injury and the quantity and polarization phenotype of macrophage infiltration.
Pestic Biochem Physiol
November 2025
State Key Laboratory of Green Pesticide, Key Laboratory of Green Pesticide and Agricultural Bioengineering, Ministry of Education, Center for R&D of Fine Chemicals of Guizhou University, Guiyang 550025, China. Electronic address:
Given the widespread presence of imidacloprid in aquatic environments and the limited research on its impact on amphibian renal health, in this study, we investigated the effects of this commonly used neonicotinoid insecticide on kidney function and molecular mechanisms in Xenopus laevis. Employing a 28-day exposure model, histopathological changes and enzymatic responses induced by two concentrations of imidacloprid were examined, along with gene expression alterations and metabolic disruptions at environmentally relevant levels. The results highlighted significant renal histopathological damage and changes in key enzymes involved in oxidative stress and neurotoxicity, such as superoxide dismutase, glutathione S-transferase, and acetylcholinesterase.
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