Polycystic Kidney Disease: advances and challenges

Abstract

Polycystic kidney disease (PKD) is a genetic condition characterized by the formation of renal cysts that progressively impair kidney function, significantly impacting global health. This study aimed to review the main advances and challenges related to the epidemiology, pathophysiology, diagnosis, complications, and treatment of PKD, focusing on the autosomal dominant (ADPKD) and autosomal recessive (ARPKD) forms. ADPKD is the most prevalent form, affecting approximately 1 in 1,000 individuals, while ARPKD is rare but often associated with high neonatal morbidity. Advances in diagnosis include high-resolution imaging, genetic testing, and biomarkers such as NGAL, which enable early detection and monitoring of disease progression. In the therapeutic field, tolvaptan has emerged as a key treatment to slow cyst growth and preserve kidney function in ADPKD patients, although its cost and side effects limit its widespread use. Strict blood pressure control, using ACE inhibitors or ARBs, remains essential to delay the progression of chronic kidney disease. Systemic complications, such as intracranial aneurysms and liver cysts, underscore the need for a multidisciplinary approach. Advances in gene therapies, such as CRISPR-Cas9 editing, offer promising perspectives for a potential cure but remain in experimental stages. In conclusion, while significant progress has improved the management of PKD, challenges such as equitable access to diagnostic tools and treatments persist, highlighting the importance of investment in research, public health policies, and preventive strategies.