Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disease that affects 1 in 2,000 individuals and is the most common hereditary kidney disease. ADPKD is equally represented among ethnicities and is more common than sickle cell disease, cystic fibrosis, Down syndrome, hemophilia and Huntington disease combined.² It is completely penetrant and
is characterized by the development of renal cysts and increasing total kidney volume (TKV), leading to urinary concentrating defects, hypertension, polyuria, nocturia, pain, nephrolithiasis, haematuria, infections and progressive loss of kidney function. However, symptoms at disease presentation and the disease course are both highly variable. Patients with ADPKD, on average, progress to end-stage renal disease (ESRD) by the age of 60 years, with 70% of patients requiring
renal replacement therapy (RRT) by the age of 70 years. Reducing the incidence of complications related to cyst burden (for example, hypertension, pain, haematuria, infection and nephrolithiasis) or delaying progressive loss of kidney function or the onset of ESRD provides significant improvements in quality of life. 3,4 Data from randomized controlled trials and observational cohort studies are beginning to affect treatment decisions in an evidence-based fashion. 5-8 As such, the goal of disease management for patients with ADPKD has shifted towards creating meaningful changes in clinical outcomes, and the potential to provide personalized care strategies to delay the onset of ESRD. ADPKD can have a wide range of clinical
presentations: severe cases are diagnosed in utero or neonatally, whereas mild cases unrecognized until 60-70 years of age and ESRD might be avoided altogether². Collection of a detailed family history is essential
for ADPKD diagnosis and to assess the severity of ADPKD. ADPKD is of ADPKD. ADPKD is typically diagnosed following an ultrasound scan that reveals numerous renal cysts, kidney enlargement and liver cysts, which are associated with haematuria,
abdominal pain and early-onset hypertension. Alternatively, ADPKD can be diagnosed in the absence of symptoms in individuals with a family history of ADPKD, or coincidentally during medical evaluation of unrelated issues. Renal complications, such as hypertension or proteinuria, cyst pain, infection or gross haematuria, especially occurring before 35 years of age, are predictors of increased disease severity and are the major components of the retrospectively developed predicting renal
outcomes in ADPKD (PROPKD) prognostic model.9.10 All patients should be asked about symptoms, including discomfort, nocturia, polydipsia, dyspareunia or early satiety, as they might not volunteer such details, despite the possibility of a substantial adverse effect on quality of life.