AI Article Synopsis
- - The study focused on understanding genetic mutations linked to inherited cystic kidney disease in the Korean population over three years, involving 725 adult patients from eight hospitals.
- - Results showed that 77.2% of patients had typical autosomal dominant polycystic kidney disease (ADPKD) while 22.8% had atypical PKD; genetic analysis revealed pathogenic variants in 64.3% of participants.
- - The findings provided important baseline clinical data for cystic kidney disease, highlighting differences in mutation detection rates between typical and atypical PKD groups.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565461 | PMC |
| http://dx.doi.org/10.23876/j.krcp.23.097 | DOI Listing |
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