Kidney Res Clin Pract.
2023 Sep;42(5):617-627. 10.23876/j.krcp.23.097.
Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease
- Cho JM
1 - Park HC2,3
- Lee JW1
- Ryu H1
- Kim YC1
- Ahn C4
- Lee KB5
- Kim YH6
- Han S7
- Kim Y7
- Bae EH8
- Kang HG9
- Park E10
- Jeong K11
- Kang S11
- Choi J11
- Oh KH1
- Oh YK12
- Affiliations
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- 1Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea
- 2Department of Internal Medicine, Hallym University Kangnam Sacred Heart Hospital, Seoul, Republic of Korea
- 3Kidney Research Institute, Hallym University College of Medicine, Seoul, Republic of Korea
- 4Department of Internal Medicine, National Medical Center, Seoul, Republic of Korea
- 5Department of Internal Medicine, Kangbuk Samsung Hospital, Seoul, Republic of Korea
- 6Department of Internal Medicine, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea
- 7Department of Internal Medicine, Keimyung University School of Medicine, Daegu, Republic of Korea
- 8Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Republic of Korea
- 9Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea
- 10Department of Pediatrics, Hallym University Kangnam Sacred Heart Hospital, Seoul, Republic of Korea
- 11Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea
- 12Department of Internal Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea
- KMID: 2547133
- DOI: http://doi.org/10.23876/j.krcp.23.097
Abstract
- Background
Identifying genetic mutations in individuals with inherited cystic kidney disease is necessary for precise treatment. We aimed to elucidate the genetic characteristics of cystic kidney disease in the Korean population. Methods: We conducted a 3-year prospective, multicenter cohort study at eight hospitals from May 2019 to May 2022. Patients with more than three renal cysts were enrolled and classified into two categories, typical autosomal dominant polycystic kidney disease (ADPKD) and atypical PKD. We identified the clinical characteristics and performed a genetic analysis using a targeted gene panel. Results: A total of 725 adult patients were included in the study, of which 560 (77.2%) were diagnosed with typical ADPKD and 165 (22.8%) had atypical PKD. Among the typical ADPKD cases, the Mayo imaging classification was as follows: 1A (55, 9.9%), 1B (149, 26.6%), 1C (198, 35.8%), 1D (90, 16.3%), and 1E (61, 11.0%). The atypical PKD cases were classified as bilateral cystic with bilateral atrophic (31, 37.3%), lopsided (27, 32.5%), unilateral (nine, 10.8%), segmental (eight, 9.6%), bilateral cystic with unilateral atrophic (seven, 8.4%), and asymmetric (one, 1.2%). Pathogenic variants were found in 64.3% of the patients using the ciliopathy-related targeted gene panel. The typical ADPKD group demonstrated a higher discovery rate (62.3%) than the atypical PKD group (41.8%). Conclusion: We present a nationwide genetic cohort’s baseline clinical and genetic characteristics for Korean cystic kidney disease.
