Genomic medicine is rapidly evolving, yet many clinicians outside of clinical genetics face challenges in integrating these advances into routine practice. In this Grand Round, Associate Professor Catherine Quinlan explores her journey mainstreaming genomics in paediatric nephrology, using real-world data from Australia and Ireland and its implementation at The Royal Children’s Hospital.
The gestational age at birth in Australia has slowly but steadily declined over the past 30 years, mainly due to increase in planned births (caesarian sections, inductions of labor). The effects of this decline in gestational age to child health are evident at many levels – intensive care, paediatric care, community, and school.
In today’s Grand Round Dr Tom Forbes will discuss primary hyperoxaluria (PH), an ultra-rare and often devastating kidney-stone forming disease which can lead to recurrent kidney stones and end-stage kidney disease.
Trials typically report outcomes that lack relevance to patients and caregivers trying to make treatment decisions. Also, outcomes are often reported inconsistently which impairs evidence synthesis. Core outcome sets can address these important shortcomings with current trial outcomes by developing a set of outcomes to be routinely reported in all trials in a particular field.
The long-term outcomes of acute kidney injury are an area of increasing interest, with epidemiological studies reporting a significantly increased long-term risk of chronic kidney disease, hypertension, dialysis dependence, and death following an episode of acute kidney injury.
The Kidney Flagship is an RCH Foundation funded project which aims to reduce the burden of genetic kidney disease on patients and their families by improving diagnosis, treatment and developing new targeted therapies. In this Grand Rounds we will show how our work has already impacted on the care of children with kidney disease and our plans for the future.
Kidney transplantation is the best treatment for children with end-stage kidney disease. However, the typical transplanted kidney fails substantially short of recipient life expectancy, due largely to chronic rejection. At the same time, the immunosuppressant drugs needed to prevent rejection sometimes cause morbidity and even mortality, from infection, cardiovascular disease and malignancy. Achieving the optimal balance between rejection risk and immunosuppressant toxicity is a critical challenge. Patients vary in how they respond to immunosuppressant drugs, so it’s very hard to get it right every time.
The kidney transplantation program at RCH has a rich history and has contributed in significant ways to improving outcomes for children with kidney failure for over 50 years. Major changes have taken place in the last two years leading to a new collaboration with the Austin Hospital, a record-breaking year for transplants in 2014 and a world-first innovation to prevent sensitisation in paediatric transplant recipients
