ArticleOrphanet journal of rare diseases2014
The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- Association of polygenic scores with chronic kidney disease phenotypes in a longitudinal study of older adults.Kidney international · 2023Trial
- Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity.Journal of clinical practice and research · 2026Article
- Association of autosomal dominant polycystic kidney disease (ADPKD) with cardiovascular disease and mortality in patients with treated kidney failure.BMC nephrology · 2025Article
- A guide to gene-disease relationships in nephrology.Nature reviews. Nephrology · 2025Review
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- People with genetic kidney diseases on kidney replacement therapy have different clinical outcomes compared to people with other kidney diseases.Scientific reports · 2024Article
- Genetic kidney disease has a higher likelihood and cost of inpatient admissions compared to other aetiologies.Genetics in medicine open · 2024Article
- Monogenic and polygenic concepts in chronic kidney disease (CKD).Journal of nephrology · 2024Review
- Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic.Kidney medicine · 2023Article
- Chronic kidney disease in public renal practices in Queensland, Australia, 2011-2018.Nephrology (Carlton, Vic.) · 2022Article
- Incorporating genetics services into adult kidney disease care.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Observational
- The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.Frontiers in medicine · 2022Article
- Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.Genes · 2021Review
- Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.Kidney international reports · 2021Article
- Identification of factors associated with high-cost use of inpatient care in chronic kidney disease: a registry study.BMJ open · 2021Article
- Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.Clinical genetics · 2021Article
- Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery.Kidney360 · 2020Article
- Genetic Kidney Disease in Southern Tasmania.Kidney international reports · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry enables partial clarification of this through the study of adults with CKD receiving nephrology care throughout Queensland, Australia.
methodsData from the first 2,935 patients consented to the CKD.QLD registry across five sites was analysed, with a comparison between those with and without Genetic Renal Disease (GRD). Prevalence of GRD amongst those with diagnosed CKD, the general population, and commencing renal replacement therapy (RRT) was calculated using the CKD.QLD registry, national census data and extracted Australian and New Zealand Dialysis and Transplantation (ANZDATA) registry report data respectively.
resultsPatients with GRD constituted 9.8% of this Australian adult CKD cohort (287/2935). This was lower than in local incident RRT cohorts (2006-2011: 9.8% vs 11.3%, x2 = 0.014). Cases of adult CKD GRD were more likely to be female (54.0% vs 45.6%; x2 = 0.007), younger (mean 52.6 yrs vs 69.3 yrs, p < 0.001), have a higher eGFR (mean 49.7 ml/min/1.73 m2 vs 40.4 ml/min/1.73 m2, p < 0.001), and have earlier stage renal disease (CKD Stage 1: 15.7% vs 5.1%, x2 < 0.0005) than those without GRD.
conclusionsThe proportion of GRD amongst an Australian adult CKD population in specialty renal practice is similar to past estimations. GRD is a significant cause for CKD and for RRT commencement, presenting opportunities for ongoing longitudinal study, directed therapeutics and clinical service redesign.
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