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KMID : 1102220230420050617
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Kidney Research and Clinical Practice
2023 Volume.42 No. 5 p.617 ~ p.627
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Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease
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Cho Jeong-Min
Park Hayne-Cho
Lee Jin-Woo
Ryu Hyun-Jin
Kim Yong-Chul
Ahn Cu-Rie
Lee Kyu-Beck
Kim Yeong-Hoon
Han Seung-Yeup
Kim Yae-Rim
Bae Eun-Hui
Kang Hee-Gyung
Park Eu-Jin
Jeong Kyung-Jo
Kang Seoon
Choi Jung-Min
Oh Kook-Hwan
Oh Yun-Kyu
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Abstract
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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.
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KEYWORD
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Autosomal dominant polycystic kidney, Clinical epidemiology, Cystic kidney disease, Epidemiology, Polycystic kidney diseases
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