Kidney Week Educational Symposia-Hope in ADPKD: Innovation in Therapeutics

Video Transcription

Video Summary

This symposium from Mayo Clinic reviews “Hope in Polycystic Kidney Disease,” focusing on improved diagnosis, risk stratification, and emerging therapies for autosomal dominant polycystic kidney disease (ADPKD) and polycystic liver disease (PLD). Dr. Marie Hogan highlights how organ-volume measurement (total kidney and liver volume) has transformed care, now accelerated by AI-assisted CT/MRI analysis. Risk tools such as the Mayo Imaging Classification and PRO-PKD help identify rapid progressors most likely to benefit from therapy. She also emphasizes expanding access to large gene panels/whole-exome sequencing, while noting interpretation challenges (variants of uncertain significance, modifier genes, mosaicism, and evolving databases like ClinVar and PKD mutation registries). Centers of excellence and registries are presented as essential for trial enrollment and multidisciplinary management. Lifestyle factors (salt restriction, blood pressure control, weight/BMI, and dietary interventions) and the need for harmonized international research efforts are also stressed.<br /><br />Dr. Kyung Park presents a case illustrating use of MRI-derived height-adjusted total kidney volume to classify a patient as Mayo class 1C and guide tolvaptan initiation. She explains that ellipsoid methods using routine radiology dimensions can approximate TKV when stereology is unavailable. Genetic testing remains useful even with family history, including for donor evaluation and PRO-PKD scoring, and PRO-PKD predicts progression and treatment benefit in trial datasets.<br /><br />Dr. Fouad Chebib summarizes ADPKD pathophysiology (low intracellular calcium, high cAMP/PKA) and therapeutic targets. Tolvaptan (V2 receptor blockade) remains the key approved disease-modifying therapy, with REMS liver monitoring and real-world discontinuation largely due to aquaresis. Emerging therapies include somatostatin analogs (helpful for PLD volume), CFTR inhibitors, NRF2 activators (bardoxolone trials), microRNA inhibitors, metabolic/diet approaches, and other repurposed agents. Q&A addresses mutation-negative cases (consider academic referral), liver cysts and tolvaptan safety, late-stage eGFR use, and trial participation barriers.

Asset Subtitle

Moderators: Marie Hogan

Introduction - Marie Hogan
Diagnosis, Genetic Testing, and Risk Stratification in ADPKD - Meyeon Park
Current and Emerging Therapies in ADPKD and Polycystic Liver Disease - Fouad Chebib

Support is provided by an educational grant from Otsuka America Pharmaceutical, Inc.

Meta Tag

Date 11/3/2022

Pathway 1 Genetic Diseases and Development

Pathway 2

Session ID 440226

Session Type ES - Educational Symposium

Keywords

autosomal dominant polycystic kidney disease (ADPKD)

polycystic liver disease (PLD)

total kidney volume (TKV)

height-adjusted total kidney volume (htTKV)

AI-assisted CT/MRI volumetry

Mayo Imaging Classification

PRO-PKD score

tolvaptan (V2 receptor antagonist)

genetic testing (gene panels/whole-exome sequencing)

emerging therapies (somatostatin analogs, CFTR inhibitors, NRF2 activators)