{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T16:17:40Z","timestamp":1783613860634,"version":"3.55.0"},"reference-count":39,"publisher":"S. Karger AG","issue":"7","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"abstract":"<jats:p>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\u2013219). Kidney involvement was more heterogeneous (htTKV range 153\u2013858 mL\/m; kidney TCN range 3\u201342). Individuals with kidney TCN &lt;20 had preserved kidney function and slower annual estimated glomerular filtration rate (eGFR) decline (median \u22121.68 mL\/min\/1.73 m2) compared with those with kidney TCN \u226520 (\u22122.8 mL\/min\/1.73 m2\/year); no individual progressed to kidney failure during follow-up. Hypertension occurred in 50%. Intracranial aneurysms were identified in 3 of 6 screened individuals, including two from a family with known aneurysmal disease. Conclusions: Quantitative imaging reveals a phenotypic spectrum in ADPKD-GANAB, ranging from liver-predominant cystic disease with minimal kidney involvement to a phenotype with higher kidney cyst burden and faster eGFR decline. Establishing robust genotype-phenotype relationships in this rare disease will require larger, aggregated cohorts with standardized imaging and systemic extrarenal screening.<\/jats:p>","DOI":"10.1159\/000551274","type":"journal-article","created":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T17:07:19Z","timestamp":1772557639000},"page":"482-497","source":"Crossref","is-referenced-by-count":0,"title":["Characterization of Kidney and Liver Cystic Phenotype Associated with GANAB Using Advanced Imaging Biomarkers"],"prefix":"10.1159","volume":"150","author":[{"given":"Fadi George","family":"Munairdjy Debeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Therese","family":"Bou 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