Interpretation of renal volume in autosomal dominant polycystic kidney disease and relevant clinical implications

Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening hereditary disease of the kidney. It presents with progressive enlargement of the kidneys with numerous cysts that distort the parenchyma and result in progressive decline in kidney function. Autosomal dominant polycystic kidney disease is genetically modified with the responsible genes localized to separate loci on chromosome 16 (PKD1 gene), accounting for the majority of ADPKD cases, and chromosome 4 (PKD2 gene), accounting for the remainder. This review discusses the current understanding of the pathogenesis of ADPKD, focusing on renal volume and its pivotal role on the manifestations of the disease. Specifically, activation of the renin-angiotensin-aldosterone system, hypertension, left ventricular hypertrophy, kidney function deterioration, pain, and hematuria are examined as consequences of renal volume increase. Recent developments on diagnostic modalities and criteria of the ADPKD are also discussed.