Advanced MRI methods for children and young adults with autosomal recessive polycystic kidney disease (ARPKD) to support future multi-center clinical trials.

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a rare, genetic ciliopathy with significant associated morbidity and mortality. ARPKD kidney disease is characterized by diffuse kidney fusiform collecting duct dilatations (microcysts) leading to progressive kidney dysfunction. Patients with ARPKD can also develop clinically-significant congenital hepatic fibrosis and portal hypertension. Despite advances in clinical management, there are currently no disease-modifying therapies approved for ARPKD, and the development of clinical trials has been limited by the lack of sensitive, non-invasive biomarkers capable of detecting early disease progression in both the kidney and liver. MRI provides a unique opportunity to address this gap by offering multiparametric, quantitative assessments of tissue structure and function without ionizing radiation or, in many cases, contrast agents. This review summarizes emerging quantitative MRI-based techniques that show promise as imaging biomarkers for children and young adults with ARPKD. These advanced MRI approaches enable comprehensive characterization of the multi-faceted structural and functional changes in the kidney and liver associated with ARPKD. Continued development and harmonization of these quantitative imaging biomarkers across institutions will be critical for enabling multi-center studies and supporting future therapeutic trials aimed at improving outcomes for children and young adults with ARPKD.