• Yaerim Kim, Hayne Cho Park, Hyunjin Ryu, Yong Chul Kim, Curie Ahn, Kyu-Beck Lee, Yeong Hoon Kim, Seungyeup Han, Eun Hui Bae, Kyungjo Jeong, Jungmin Choi, Kook-Hwan Oh, and Yun Kyu Oh.
• Department of Internal Medicine, Keimyung University School of Medicine, Daegu, Korea.
• J. Korean Med. Sci. 2023 Sep 25; 38 (38): e296e296.

BackgroundFactors related to the development and severity of polycystic liver disease (PLD) have not been well established. We aimed to evaluate the genetic and epidemiologic risk factors of PLD in patients with autosomal dominant polycystic kidney disease (ADPKD).MethodsAdult patients with inherited cystic kidney disease were enrolled from May 2019 to May 2021. Demographic, clinical, and laboratory data were collected at the initial study visit. The severity of PLD was graded based on the height-adjusted total liver volume: < 1,000 mL/m (Gr1), 1,000-1,800 mL/m (Gr2), and > 1,800 mL/m (Gr3). Targeted exome sequencing was done by a gene panel including 89 ciliopathy-related genes. We searched out the relative factors to the presence and the severity of PLD using logistic regression analysis.ResultsOf 602 patients with typical ADPKD, 461 (76.6%) patients had PLD. The patients with PLD showed female predominance and a higher frequency of other ADPKD-related complications. The genetic variants with truncating mutation of PKD1 (PKD1-protein-truncating [PT]) or PKD2 commonly affected the development and severity of PLD. An older age, female sex, and higher kidney volume with Mayo classification 1C-1E was significantly associated with the development of PLD, but not with the severity of PLD. On the other hand, higher body mass index, lower hemoglobin, and higher alkaline phosphatase (ALP) were the significant risk factors of severe PLD (≥ Gr2).ConclusionHepatic involvement in ADPKD could be related to kidney manifestations and genetic variants including PKD1-PT or PKD2. Monitoring hemoglobin and ALP and evaluating the genetic variants might help predict severe PLD.Trial RegistrationClinical Research Information Service Identifier: KCT0005580.© 2023 The Korean Academy of Medical Sciences.

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