Characterization of Kidney and Liver Cystic Phenotype Associated with GANAB Using Advanced Imaging Biomarkers

BACKGROUND: Monoallelic pathogenic variants in GANAB cause autosomal dominant cystic kidney and liver disease, but quantitative imaging phenotypes remain incompletely defined. METHODS: We performed a retrospective study of 16 individuals with GANAB variants and available abdominal imaging. Deep learning-based cyst segmentation quantified kidney and liver volumes and cyst metrics, including height-adjusted total kidney volume (htTKV), height-adjusted total liver volume, total cyst number (TCN), and height-adjusted total cyst volume. RESULTS: Hepatic involvement was common, with polycystic liver disease present in most individuals with varying severity (liver TCN range 22-219). Kidney involvement was more heterogeneous (htTKV range 153-858 mL/m; kidney TCN range 3-42). Individuals with kidney TCN