Conference Proceedings
SUN-205 Inherited Renal Disease at the Royal Melbourne Hospital – Prevalence, Impact and Benefit of a Specialist Renal Genetics Clinic
A Talbot, S Holt, C Quinlan, A Trainer, I Winship, K Nicholls
Kidney International Reports | Elsevier BV | Published : 2019
Open access
Abstract
Introduction: Approximately 10% of the Australian population is affected by Chronic Kidney disease (CKD), with a large proportion caused by lifestyle factors including Type 2 Diabetes, Obesity and hypertension. Monogenic or inherited renal diseases are an under-recognised cause of CKD, causing between 10-25% of diagnoses. Polycystic Kidney Disease (PCKD) and Alport syndrome are the most frequently diagnosed. Assessment of the true prevalence and impact of monogenic renal disease has been limited by variability in both phenotype and disease penetration and reduced access to available genetic testing. More recently the proliferation of newly recognized genes has identified many more inherited ..
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