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KMID : 0191120230380380296
Journal of Korean Medical Science
2023 Volume.38 No. 38 p.296 ~ p.296
Factors Associated With the Development and Severity of Polycystic Liver in Patients With Autosomal Dominant Polycystic Kidney Disease
Kim Yae-Rim

Hayne Cho Park
Ryu Hyun-Jin
Kim Yong-Chul
Ahn Cu-Rie
Lee Kyu-Beck
Kim Yeong-Hoon
Han Seung-Yeup
Bae Eun-Hui
Jeong Kyung-Jo
Choi Jung-Min
Oh Kook-Hwan
Oh Yun-Kyu
Abstract
Background : Factors 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).

Methods : Adult 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.

Results : Of 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 (¡Ã Gr2).

Conclusion : Hepatic 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.
KEYWORD
Polycystic Kidney, Autosomal Dominant, Polycystic Liver Disease, Risk Factors, Genotype
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