Journal article

1 Renal genetics in Australia: Kidney medicine in the genomic age

Kushani Jayasinghe, Catherine Quinlan, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Louise Wardrop, Peter G Kerr, Peter Trnka, Andrew J Mallett

Nephrology | WILEY | Published : 2019


There have been few new therapies for patients with chronic kidney disease in the last decade. However, the management of patients affected by genetic kidney disease is rapidly evolving. Inherited or genetic kidney disease affects around 10% of adults with end-stage kidney disease and up to 70% of children with early onset kidney disease. Advances in next-generation sequencing have enabled rapid and cost-effective sequencing of large amounts of DNA. Next-generation sequencing-based diagnostic tests now enable identification of a monogenic cause in around 20% of patients with early-onset chronic kidney disease. A definitive diagnosis through genomic testing may negate the need for prolonged d..

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