Autosomal dominant polycystic kidney disease is the fourth most common cause of end-stage kidney disease in Australia. GPs play an important role in all aspects of management, including initial diagnosis, treatments to slow disease progression, monitoring for complications and screening of at-risk family members.
- Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition characterised by the formation of multiple fluid-filled renal cysts and kidney enlargement.
- Complications of ADPKD include end-stage kidney disease, early-onset hypertension, nephrolithiasis, intracranial cerebral aneurysm and polycystic liver disease.
- Symptoms typically do not appear until after early to middle adulthood, and individual lifetime risk of renal failure varies markedly.
- Renal ultrasound examination remains the preferred imaging modality for diagnosis and family screening.
- Management includes referral to a nephrologist, genetic counselling, education, dietary and lifestyle treatments to slow progression of kidney disease, antihypertensives and monitoring for systemic complications.
- Disease-modifying treatments to slow cyst growth (e.g. tolvaptan) are in development.