Spanish guidelines for the management of autosomal dominant polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6-10% of patients on renal replacement therapy (RRT). Very few prospective, randomized trials or clinical studies address the diagnosis and management of this relatively frequent disorder. No clinical guidelines are available to date. This is a consensus statement presenting the recommendations of the Spanish Working Group on Inherited Kidney Diseases, which were agreed to following a literature search and discussions. Levels of evidence found were C and D according to the Centre for Evidence-Based Medicine (University of Oxford). The recommendations relate to, among other topics, the use of imaging and genetic diagnosis, management of hypertension, pain, cyst infections and bleeding, extra-renal involvement including polycystic liver disease and cranial aneurysms, management of chronic kidney disease (CKD) and RRT and management of children with ADPKD. Recommendations on specific ADPKD therapies are not provided since no drug has regulatory approval for this indication.

Intracranial Manifestations of Autosomal Dominant Polycystic Kidney Disease

“…In ADPKD, positive family history is also considered a for a major surgery, or in occupation or hobby in which loss of consciousness could be dangerous (pilots, etc. ), or patients in which there is anxiety associated with risk of SAH [35,[42][43][44][45] . It appears that ADPKD patients with a history of SAH are a group which would benefit most from the screening [14] .…”

“…For patients with ADPKD, and a positive family history of SAH it is proposed to start screening before the age of 20 because only 2.5-10% of bleedings in this group are disclosed at such a young age [6] . Symptoms suggestive of IA are considered an indication for IA screening in ADPKD [42] . Also, headache is given by some as a potential indication for screening [24] .…”

“…Similarly, treatment should be considered in young patients with smaller (<7 mm in diameter) IA, when 1 of the 3 latter features are present. Treatment is not recommended in patients with IAs <7 mm in diameter, localized in the anterior circulation, without family history for SAH, without daughter sac, and in cases of asymptomatic cavernous internal carotid aneurysms [42] . Small, untreated IAs require reevaluation every 6-24 months [55] .…”

“…Small, untreated IAs require reevaluation every 6-24 months [55] . It is important that the intervention is personalized [42] .…”

Tolvaptan: A Review in Autosomal Dominant Polycystic Kidney Disease

“…It is characterized by the progressive development of renal cysts, and the course of disease is often associated with renal function abnormalities, hypertension and kidney pain [1]. ADPKD is a leading cause of end-stage renal disease (ESRD) [1,2], accounting for &5-10 % of cases of ESRD requiring renal replacement therapy in Europe and the USA [5]. ADPKD is a genetically heterogeneous disease caused by a mutation in one of two genes: PKD1, which accounts for 85 % of cases, and PKD2, which accounts for the remaining 15 % [1].…”