TY - JOUR
T1 - Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease
AU - Cho, Jeong Min
AU - Park, Hayne Cho
AU - Lee, Jin Woo
AU - Ryu, Hyunjin
AU - Kim, Yong Chul
AU - Ahn, Curie
AU - Lee, Kyu Beck
AU - Kim, Yeong Hoon
AU - Han, Seungyeup
AU - Kim, Yaerim
AU - Bae, Eun Hui
AU - Kang, Hee Gyung
AU - Park, Eujin
AU - Jeong, Kyungjo
AU - Kang, Seoon
AU - Choi, Jungmin
AU - Oh, Kook Hwan
AU - Oh, Yun Kyu
N1 - Publisher Copyright:
© 2023 by The Korean Society of Nephrology.
PY - 2023/9/1
Y1 - 2023/9/1
N2 - 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.
AB - 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.
KW - Autosomal dominant polycystic kidney
KW - Clinical epidemiology
KW - Cystic kidney disease
KW - Epidemiology
KW - Polycystic kidney diseases
UR - http://www.scopus.com/inward/record.url?scp=85173816664&partnerID=8YFLogxK
U2 - 10.23876/j.krcp.23.097
DO - 10.23876/j.krcp.23.097
M3 - Article
AN - SCOPUS:85173816664
SN - 2211-9132
VL - 42
SP - 617
EP - 627
JO - Kidney Research and Clinical Practice
JF - Kidney Research and Clinical Practice
IS - 5
ER -