Kidney Res Clin Pract. 2023;42(5):617-627.

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

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제1저자 조정민 · 교신저자 오윤규

PMID 37813524 PMC10565461 DOI 10.23876/j.krcp.23.097 IF 3.5 신장내과

소속 (12)

Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Department of Internal Medicine, Hallym University Kangnam Sacred Heart Hospital, Seoul, Republic of Korea.
Kidney Research Institute, Hallym University College of Medicine, Seoul, Republic of Korea.
Department of Internal Medicine, National Medical Center, Seoul, Republic of Korea.
Department of Internal Medicine, Kangbuk Samsung Hospital, Seoul, Republic of Korea.
Department of Internal Medicine, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
Department of Internal Medicine, Keimyung University School of Medicine, Daegu, Republic of Korea.
Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Republic of Korea.
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Department of Pediatrics, Hallym University Kangnam Sacred Heart Hospital, Seoul, Republic of Korea.
Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea.
Department of Internal Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea.

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.

Keywords

Autosomal dominant polycystic kidneyClinical epidemiologyCystic kidney diseaseEpidemiologyPolycystic kidney diseases

Figures

**Figure 1.** Study flowchart. ADPKD, autosomal dominant polycystic kidney disease; PKD, polycystic kidney disease.

**Figure 2.** Genetic profile of typical ADPKD and atypical PKD groups using targeted gene panel. In 725 patients, the mutation detection rate based on the gene panel was 64.3% (466 out of 725). In typical ADPKD group (A, n = 560) and atypical PKD group (B, n = 165), mutation detection rates were 62.3% and 41.8%, respectively. ADPKD, autosomal dominant polycystic kidney disease; DM, damaging; NV, no variants; PKD, polycystic kidney disease; VUS, variants of unknown significance.

그림 출처: PubMed Central 공개 논문 (PMC10565461)

Conflict of interest statement

Conflicts of interest . All authors have no conflicts of interest to declare.

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