Polycystic kidney disease

Polycystic kidney disease (PKD) is an inherited renal cystic disease, of which autosomal-dominant polycystic kidney disease is the more common form.

Characterised by renal cysts, extrarenal cysts, intracranial aneurysms, 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 kidney disease; intracranial, coronary, thoracic, and abdominal aneurysms; liver and pancreatic cysts; and end-stage renal disease.

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 and severe liver disease are available for use.

PKD is part of a heterogeneous group of disorders characterised by renal cysts and numerous systemic and extrarenal manifestations.[1]Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018 Dec 6;4(1):50. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6592047 http://www.ncbi.nlm.nih.gov/pubmed/30523303?tool=bestpractice.com There are 2 types: autosomal-dominant PKD (ADPKD) and autosomal-recessive PKD (ARPKD). This topic concentrates on ADPKD, the more common form.