2014
DOI: 10.1186/1750-1172-9-98
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The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia

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 Geneti… Show more

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Cited by 60 publications
(60 citation statements)
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“…New technologies of massive parallel sequencing and improvements in bioinformatics have brought remarkable progress to the identification of causative genes within the last years . It has also been estimated that at least 10% of adult patients in need of renal replacement therapy suffer from genetic disease . However, diagnostic markers and knowledge on the underlying pathomechanisms are frequently lacking in RKD.…”
Section: Significantly Fold‐changed Proteins In Urinary Exosomes Of Amentioning
confidence: 99%
“…New technologies of massive parallel sequencing and improvements in bioinformatics have brought remarkable progress to the identification of causative genes within the last years . It has also been estimated that at least 10% of adult patients in need of renal replacement therapy suffer from genetic disease . However, diagnostic markers and knowledge on the underlying pathomechanisms are frequently lacking in RKD.…”
Section: Significantly Fold‐changed Proteins In Urinary Exosomes Of Amentioning
confidence: 99%
“…Its well‐known characteristic phenotype is the development of numerous bilateral renal cysts that grow at an exponential rate through adult life and compress normal renal tissue, resulting in at least a 50% risk of end‐stage kidney disease (ESKD). In developed countries, ADPKD constitutes ~5–10% of dialysis populations . Heterozygous germ‐line mutations, predominantly in the PKD1 gene (85% of cases) or to a lesser extent in the PKD2 gene (15% of cases), cause ADPKD and are identified in up to 90% of patients.…”
Section: Part I: Diagnosis Genetic Counselling and Screeningmentioning
confidence: 99%
“…Multidisciplinary clinics are proposed to overcome this 1 in many medical fields 2 . This is especially so in nephrology, which is typified by significant community disease burden 3 and heritability 4 . Several renal genetics clinics (RGCs) operate overseas, although their models and outcomes are largely unreported.…”
mentioning
confidence: 99%