Diagnosis of autosomal dominant polycystic kidney disease

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and accounts for 5 - 10% of end stage renal disease. Mutations of two genes, PKD1 and PKD2, account for ∼ 85 and ∼ 15% of cases, respectively. OBJECTIVE: This paper reviews the clinical features of ADPKD, highlights the current roles for image- and molecular-based diagnostics, and the potential for new innovations to improve the clinical diagnostics for ADPKD. METHODS: This paper reviews the literature on the clinical features, differential diagnosis, and image- and molecular-based diagnostics for ADPKD. RESULTS/CONCLUSION: At present, presymptomatic diagnosis of ADPKD in subjects born with 50% risk is typically performed by renal ultrasonography. Renal MRI, with improved sensitivity for detecting smaller cysts, is a promising modality. There is also a clear role for molecular diagnostics, especially in patients with equivocal imaging results, in those with a negative family history and in younger at-risk subjects with a negative ultrasound study being evaluated as a living-related kidney donor. Also, several classes of promising disease-modifying drugs are being tested in clinical trials and, if proved effective, some of them will be used in early disease. Therefore, it is likely that there will be an increased demand for accurate and early diagnosis of ADPKD in the not so distant future.