Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease
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...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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The Korean Society of Nephrology
2023-09-01
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| Series: | Kidney Research and Clinical Practice |
| Subjects: | |
| Online Access: | http://krcp-ksn.org/upload/pdf/j-krcp-23-097.pdf |
| _version_ | 1797628845578256384 |
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| author | Jeong Min Cho Hayne Cho Park Jin Woo Lee Hyunjin Ryu Yong Chul Kim Curie Ahn Kyu-Beck Lee Yeong Hoon Kim Seungyeup Han Yaerim Kim Eun Hui Bae Hee Gyung Kang Eujin Park Kyungjo Jeong Seoon Kang Jungmin Choi Kook-Hwan Oh Yun Kyu Oh |
| author_facet | Jeong Min Cho Hayne Cho Park Jin Woo Lee Hyunjin Ryu Yong Chul Kim Curie Ahn Kyu-Beck Lee Yeong Hoon Kim Seungyeup Han Yaerim Kim Eun Hui Bae Hee Gyung Kang Eujin Park Kyungjo Jeong Seoon Kang Jungmin Choi Kook-Hwan Oh Yun Kyu Oh |
| author_sort | Jeong Min Cho |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T10:44:54Z |
| format | Article |
| id | doaj.art-62f89c25ed7e4c589a30c8bdef0c2b1f |
| institution | Directory Open Access Journal |
| issn | 2211-9132 2211-9140 |
| language | English |
| last_indexed | 2024-03-11T10:44:54Z |
| publishDate | 2023-09-01 |
| publisher | The Korean Society of Nephrology |
| record_format | Article |
| series | Kidney Research and Clinical Practice |
| spelling | doaj.art-62f89c25ed7e4c589a30c8bdef0c2b1f2023-11-14T07:03:34ZengThe Korean Society of NephrologyKidney Research and Clinical Practice2211-91322211-91402023-09-0142561762710.23876/j.krcp.23.0976272Baseline characteristics of the Korean genetic cohort of inherited cystic kidney diseaseJeong Min Cho0Hayne Cho Park1Jin Woo Lee2Hyunjin Ryu3Yong Chul Kim4Curie Ahn5Kyu-Beck Lee6Yeong Hoon Kim7Seungyeup Han8Yaerim Kim9Eun Hui Bae10Hee Gyung Kang11Eujin Park12Kyungjo Jeong13Seoon Kang14Jungmin Choi15Kook-Hwan Oh16Yun Kyu Oh17 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 Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea Department of Internal Medicine, Seoul National University Hospital, 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, 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 Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea Department of Internal Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of KoreaBackground 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.http://krcp-ksn.org/upload/pdf/j-krcp-23-097.pdfautosomal dominant polycystic kidneyclinical epidemiologycystic kidney diseaseepidemiologypolycystic kidney diseases |
| spellingShingle | Jeong Min Cho Hayne Cho Park Jin Woo Lee Hyunjin Ryu Yong Chul Kim Curie Ahn Kyu-Beck Lee Yeong Hoon Kim Seungyeup Han Yaerim Kim Eun Hui Bae Hee Gyung Kang Eujin Park Kyungjo Jeong Seoon Kang Jungmin Choi Kook-Hwan Oh Yun Kyu Oh Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease Kidney Research and Clinical Practice autosomal dominant polycystic kidney clinical epidemiology cystic kidney disease epidemiology polycystic kidney diseases |
| title | Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease |
| title_full | Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease |
| title_fullStr | Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease |
| title_full_unstemmed | Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease |
| title_short | Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease |
| title_sort | baseline characteristics of the korean genetic cohort of inherited cystic kidney disease |
| topic | autosomal dominant polycystic kidney clinical epidemiology cystic kidney disease epidemiology polycystic kidney diseases |
| url | http://krcp-ksn.org/upload/pdf/j-krcp-23-097.pdf |
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