Kidney Disease
Saravanan Satkumaran (Sana)Current Australian data shows 50% of children diagnosed with kidney disease have a genetic form of the condition with prenatal onset.
Diagnosis is often drawn-out and fraught with invasive treatments such as surgery and dialysis. If diagnosed early, some forms of genetic kidney disease can be treated, giving patients an extra decade of kidney function. By dissecting existing hospital data, we can spot early signs of genetic kidney disease and suggest a genomic test. This test enables a speedy, pinpoint, cost-effective diagnosis.
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Early diagnosis saves kidneys
An extra decade of kidney function has been protected for one of our RCH patients through an early diagnosis of Alport Syndrome and treatment intervention.
50% of children diagnosed with kidney disease have a genetic form of the condition with prenatal onset. Diagnosis is often drawn-out and fraught with invasive treatments such as surgery and dialysis. If diagnosed early, some forms of genetic kidney disease can be treated, giving patients an extra decade or more of kidney function and reducing costly healthcare interventions.
Innovative health analytics methodologies were used to generate reports that dissected existing hospital data to spot early signs of genetic kidney disease. Patients with persistent early signs were offered a genomic test. This test enables an innovative, speedy, pinpoint, cost-effective diagnosis, for an otherwise life-limiting disease.
1388 patients have been identified and contacted for additional testing, 7 patients have been offered a genomic test, and to date 4 patients have been diagnosed with Alport Syndrome, which might otherwise have gone undetected until it was too late for early intervention. This study is ongoing, with over 60% of the 1388 patients still to receive additional testing
