In:
Nephrology Dialysis Transplantation, Oxford University Press (OUP), Vol. 38, No. Supplement_1 ( 2023-06-14)
Abstract:
We report the baseline and genetic characteristics of the nationwide genetic cohort for Korean hereditary cystic kidney disease prior to detailed molecular analysis. Method We performed a 3-year prospective, multicenter cohort study at 9 hospitals from May 2019 to May 2022. Patients with more than 3 renal cysts were enrolled and classified into 3 categories: typical and atypical autosomal dominant polycystic kidney disease (ADPKD), and pediatric PKD. Clinical and genetic characteristics were compared among categories. Genetic analysis was performed by using gene panel comprised of 89 ciliopathy-related genes. Results A total of 798 patients were enrolled. Mean age was 42.7 ± 17.3 years, and 47.8% were male. Patients were categorized into typical ADPKD (560, 70.2%), atypical ADPKD (165, 20.7%), and pediatric PKD (73, 9.1%). Typical ADPKD by Mayo imaging classification (MIC) I was as follows: 1A 55 (9.9%), 1B 149 (26.9%), 1C 198 (35.8%), 1D 90 (16.3%), and 1E 61 (11.0%) (n = 553). Atypical ADPKD by MIC II included bilateral cystic with bilateral atrophic (31, 37.3%), lopsided (27, 32.5%), unilateral (9, 10.8%), segmental (8, 9.6%), bilateral cystic with unilateral atrophic (7, 8.4%), and asymmetric (1, 1.2%). The mean age was lower in the typical ADPKD group compared to atypical group (45.3 ± 13.3 vs. 48.9 ± 15.8, p = 0.003). Height-adjusted total kidney volume was greater in the typical group than atypical group (947.4 ± 762.5 mL/m vs. 528.2 ± 587.6 mL/m, p & lt;0.001). Pathogenic variants were found in 57.3% of the patients by ciliopathy-related gene panel. Typical ADPKD group demonstrated higher discovery rate (62.3%) compared to atypical ADPKD group (41.8%) or pediatric PKD group (53.4%). Conclusion This is the first nationwide cohort for genetic characterization of Korean hereditary cystic kidney disease patients. We report the baseline characteristics and genetic findings of the cohort prior to detailed molecular analysis.
Type of Medium:
Online Resource
ISSN:
0931-0509
,
1460-2385
DOI:
10.1093/ndt/gfad063c_4097
Language:
English
Publisher:
Oxford University Press (OUP)
Publication Date:
2023
detail.hit.zdb_id:
1465709-0
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