Current management of autosomal dominant polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD), the most frequent cause of genetic renal disease affecting approximately 4 to 7 million individuals worldwide and accounting for 7%-15% of patients on renal replacement therapy, is a systemic disorder mainly involving the kidney but cysts can also occur in other organs such as the liver, pancreas, arachnoid membrane and seminal vesicles. Though computed tomography and magnetic resonance imaging (MRI) were similar in evaluating 81% of cystic lesions of the kidney, MRI may depict septa, wall thickening or enhancement leading to upgrade in cyst classification that can affect management. A screening strategy for intracranial aneurysms would provide 1.0 additional year of life without neurological disability to a 20-year-old patient with ADPKD and reduce the financial impact on society of the disease. Current treatment strategies include reducing: cyclic adenosine monophosphate levels, cell proliferation and fluid secretion. Several randomised clinical trials (RCT) including mammalian target of rapamycin inhibitors, somatostatin analogues and a vasopressin V2 receptor antagonist have been performed to study the effect of diverse drugs on growth of renal and hepatic cysts, and on deterioration of renal function. Prophylactic native nephrectomy is indicated in patients with a history of cyst infection or recurrent haemorrhage or to those in whom space must be made to implant the graft. The absence of large RCT on various aspects of the disease and its treatment leaves considerable uncertainty and ambiguity in many aspects of ADPKD patient care as it relates to end stage renal disease (ESRD). The outlook of patients with ADPKD is improving and is in fact much better than that for patients in ESRD due to other causes. This review highlights the need for well-structured RCTs as a first step towards trying newer interventions so as to develop updated clinical management guidelines.

Keywords: Autosomal dominant polycystic kidney disease; Native nephrectomy; Cyst decortication; Kidney transplantation; Hypertension; Drug therapy; End stage renal disease; Extrarenal manifestatation; Total kidney volume

Core tip: Autosomal dominant polycystic kidney disease (ADPKD), the most frequent cause of genetic kidney disease affecting approximately 4 to 7 million individuals worldwide (7%-15% of patients on renal replacement therapy), is a systemic disorder mainly involving the kidney but cysts can also occur in other organs such as the liver, pancreas and arachnoid membrane. This paper discusses radiological evaluation of ADPKD, necessity for screening for intracranial aneurysms and current treatment strategies include reducing: cyclic adenosine monophosphate levels, cell proliferation and fluid secretion. It further discusses the role of surgery in managing ADPKD patients and highlights areas of new research.