New treatment paradigms for ADPKD: moving towards precision medicine

Key PointsClinicians are now able to identify which patients with autosomal dominant polycystic kidney disease (ADPKD) are at highest risk of progression and most likely to benefit from early therapyMRI measurement of total kidney volume (TKV) is a valuable method to predict future rate of increase in TKV, rate of decline in kidney function and risk of end-stage renal disease (ESRD)The availability of genetic testing will continue to increase and can provide a diagnosis in unusual or atypical cases or in young (<30 years of age) patients being assessed for kidney donationADPKD is typically the result of germline PKD1 or PKD2 mutations, with somatic mutations, genetic mosaicism and modifier mutations occasionally contributing to the ADPKD phenotypeDisruption of polycystin trafficking and signalling, environmental exposures and the compounding 'snowball' effects of regional ischaemia, inflammation and tubular obstruction further contribute to disease progressionNovel strategies intended to limit cyst burden have provided encouraging results, whereas treatment of hypertension and proteinuria remain the mainstays of medical management of ADPKDAssessment and treatment of ADPKD-related complications, including cyst haemorrhage, cyst infection, nephrolithiasis and chronic pain, require special consideration and attention