Autosomal dominant polycystic kidney disease

Area of Science:

• Nephrology
• Genetics
• Medical Imaging

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of chronic kidney disease (CKD).
• It leads to significant global morbidity and mortality.
• Advances in genetics and imaging have improved ADPKD diagnosis and prognosis.

Purpose of the Study:

• To review current diagnostic and prognostic tools for ADPKD.
• To discuss disease-modifying treatments, focusing on tolvaptan.
• To outline comprehensive management strategies for ADPKD and its complications.

Main Methods:

• Review of current literature on ADPKD diagnosis, genetics, and treatment.
• Analysis of evidence supporting tolvaptan efficacy.
• Discussion of management protocols for ADPKD complications.

Main Results:

• Tolvaptan demonstrates disease-modifying potential, supporting early use in high-risk patients.
• Screening and management of complications like cyst infections and aneurysms are crucial.
• Updated understanding of ADPKD genetics and pathobiology reveals new therapeutic targets.

Conclusions:

• A holistic, patient-centered care pathway is proposed for lifelong ADPKD management.
• Shared decision-making with multidisciplinary teams is essential.
• Promising new therapies are under investigation in clinical trials.