Polycystic kidney disease

Inherited renal cystic disease, of which autosomal-dominant polycystic kidney disease (ADPKD) is the more common form.

Characterised by renal cysts, extrarenal cysts, intracranial aneurysms and dolichoectasias (elongated and distended arteries), aortic root dilation and aneurysms, mitral valve prolapse, and abdominal wall hernias.

Interfamilial and intrafamilial variability is explained to a large extent by its genetic heterogeneity and modifier genes.

Long-term complications include hypertension, increased cardiovascular morbidity and mortality, chronic renal failure, ruptured intracranial aneurysm, and end-stage renal disease (ESRD).

Efforts to slow the progression of the disease and delay the need for renal replacement therapy are being investigated, and in some countries therapies that slow kidney disease are approved for use.

Polycystic kidney disease (PKD) is part of a heterogeneous group of disorders characterised by renal cysts and numerous systemic and extrarenal manifestations. There are 2 types: autosomal-dominant PKD (ADPKD) and autosomal-recessive PKD (ARPKD). This monograph concentrates on ADPKD, the more common form.