Ghozloujeh, Zohreh Gholizadeh

ABSTRACT Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disorder leading to kidney failure. Recent advancements in artificial intelligence (AI) are transforming the diagnosis, risk stratification, management and prognostication in ADPKD by enabling more accurate assessments and individualized care. AI-powered imaging tools enhance the measurement of total kidney volume (TKV), improving the precision and efficiency of monitoring disease progression and more reliable assessment of therapeutic response. Machine learning algorithms can integrate genetic, imaging and clinical data to predict kidney function decline, facilitating personalized treatment strategies. In addition, AI is being used to identify genetic variants and to refine genotype–phenotype relationships, offering deeper insights into disease variability. AI-enabled monitoring technologies can support longitudinal tracking of TKV measurements obtained through magnetic resonance imaging or computed tomography, thereby improving clinical decision-making and management. Furthermore, AI can optimize clinical trial design by improving patient selection, prediction of treatment responses and safety monitoring. Despite these promising developments, integrating AI into the clinical practice remains controversial and may pose several challenges. This review highlights the emerging clinical applications of AI in ADPKD, emphasizing its potential to advance precision medicine and improve patient outcomes.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder marked by the development of cysts in the kidneys and other organs, leading to diverse clinical manifestations, including kidney failure. The psychological burden of ADPKD is substantial, with significant contributors including pain, daily life disruptions, depression, anxiety, and the guilt associated with transmitting ADPKD to offspring. This review details the psychological impacts of ADPKD on patients, addressing how they navigate physical and emotional challenges, including pain management, genetic guilt, mood disorders, and disease acceptance. This review also underscores the need for comprehensive research into the psychological aspects of ADPKD, focusing on the prevalence and contributing factors of emotional distress and identifying effective strategies for managing anxiety and depression. Furthermore, it highlights the importance of understanding the diverse factors that influence patients' quality of life and advocates for holistic interventions to address these psychological challenges.