Abstract: TH-PO366
Factors Associated With Severity of Polycystic Liver in Patients With Autosomal Dominant Polycystic Kidney Disease: Results From an Inherited Cystic Kidney Disease Genetic Cohort Study
Session Information
- Genetic Diseases of the Kidneys: Cystic - I
November 03, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1101 Genetic Diseases of the Kidneys: Cystic
Authors
- Park, Hayne C., Kangnam Sacred Heart Hospital, Seoul, Korea (the Republic of)
- Lee, Jinwoo, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
- Kim, Yong Chul, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
- Ahn, Curie, National Medical Center, Seoul, Korea (the Republic of)
- Kim, Yaerim, Keimyung University School of Medicine, Daegu, Korea (the Republic of)
- Kang, Hee Gyung, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
- Choi, Jungmin, Korea University College of Medicine and School of Medicine, Seoul, Korea (the Republic of)
- Oh, Kook-Hwan, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
- Oh, Yun Kyu, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
Background
Polycystic liver (PLD) is the most common extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD). We have analyzed genetic and clinical factors related to the severity of PLD among the patients with Korean ADPKD.
Methods
A total of 480 adult patients with ADPKD were enrolled from May 2019 to April 2022. Demographic, clinical, and laboratory data were collected at the initial study visit. Liver volumes were measured using Image J by one professional radiologist and adjusted for height (HtTLV) before analysis. The severity of PLD was defined by previous study: no cyst (Gr0), HtTLV<1000mL/m (Gr 1), HtTLV 1000-1800mL/m (Gr 2), HtTLV>1800mL/m (Gr 3). Targeted exome sequencing was done by gene panel including 89 ciliopathy-related genes. Genetic and clinical factors were compared between PLD groups.
Results
The mean age was 44 years old and female comprised of 54%. The patients with liver cysts (n=298 in Gr 1, n=120 in Gr 2, n=62 in Gr 3) showed higher frequency of ADPKD-related complication such as hypertension (87.4% vs. 71.5%, p<0.001), proteinuria (27.9% vs. 14.9%, p=0.001), and cerebral aneurysm (10.0% vs. 1.7%) compared to those without liver cysts (n=229 in Gr 0). The patients in Gr 2 and 3 showed older age (53.3±8.1 and 45.0±12.9 vs. 41.9±13.4, p<0.001), higher number of childbirth (1.78±0.82 and 1.64±1.05 vs. 1.27±1.07, p=0.004), and higher prevalence of hypertension (93.5% and 84.2% vs. 65.8%, p<0.001). The patients with severe PLD (Gr 3) demonstrated higher serum level of alkaline phosphatase compared to Gr1 and Gr 2 (95.9±75.4 vs. 56.6±30.1 and 66.1±35.3 IU/L, p<0.001). Interestingly, Gr 3 PLD group showed higher proportion of double variants (25.4 vs. 13.5% and 16.2%) compared to Gr1 and Gr2 groups. The combination of PKD1 and collagen type IV variants were highly prevalent in severe PLD groups.
Conclusion
The PLD severity was associated with female gender, higher number of childbirth, and frequent PKD-related complications. Double variants, especially the combination of PKD1 and collagen type IV variants, were associated with severe PLD.
Funding
- Government Support – Non-U.S.