Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease

• Published in: Kidney research and clinical practice 2023, 42(5), , pp.617-627
• Main Authors: Cho, Jeong Min, Park, Hayne Cho, Lee, Jin Woo, Ryu, Hyunjin, Kim, Yong Chul, Ahn, Curie, Lee, Kyu-Beck, Kim, Yeong Hoon, Han, Seungyeup, Kim, Yaerim, Bae, Eun Hui, Kang, Hee Gyung, Park, Eujin, Jeong, Kyungjo, Kang, Seoon, Choi, Jungmin, Oh, Kook-Hwan, Oh, Yun Kyu
• Format: Article
• Language: English
• Subjects: autosomal dominant polycystic kidney; clinical epidemiology; cystic kidney disease; epidemiology; Original; polycystic kidney diseases; 내과학
• ISSN: 2211-9132; 2211-9140
• DOI: 10.23876/j.krcp.23.097

BACKGROUNDIdentifying 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. METHODSWe 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. RESULTSA 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%). CONCLUSIONWe present a nationwide genetic cohort's baseline clinical and genetic characteristics for Korean cystic kidney disease.