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Abstract: TH-PO365

Genetic Identification of Inherited Cystic Kidney Diseases Using Next Generation Sequencing: Results From a 3-Year Korean Prospective Genetic Cohort

Session Information

Category: Genetic Diseases of the Kidneys

  • 1101 Genetic Diseases of the Kidneys: Cystic


  • Park, Hayne C., Kangnam Sacred Heart Hospital, Yeongdeungpo-gu, Seoul, Korea (the Republic of)
  • Lee, Jinwoo, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
  • Kim, Yong Chul, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
  • Ahn, Curie, National Medical Center, Seoul, Korea (the Republic of)
  • Kim, Yaerim, Keimyung University School of Medicine, Daegu, Korea (the Republic of)
  • Kang, Hee Gyung, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Choi, Jungmin, Korea University College of Medicine and School of Medicine, Seoul, Korea (the Republic of)
  • Oh, Kook-Hwan, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
  • Oh, Yun Kyu, Seoul National University College of Medicine, Seoul, Korea (the Republic of)

Inherited cystic kidney disease is a spectrum of disorders in which clusters of renal cysts develop as the result of genetic mutations. We performed a 3-year, prospective, multicenter cohort study to demonstrate genetic profiles in the Korean patients with inherited cystic kidney disease using next generation sequencing.


From May 2020 to May 2022, a total of 824 patients (751 adults, 73 children) with more than 3 renal cysts in both kidneys were enrolled from 11 centers. Demographic, laboratory, and imaging data as well as family pedigree were collected at baseline. Renal function was evaluated annually thereafter. The patients were clinically divided into typical polycystic kidney disease (PKD), atypical PKD, and pediatric cases. We have introduced a gene panel with 89 ciliopathy-related genes as a screening method. We additionally performed PKD1 targeted exome sequencing with long-range polymerase chain reaction (PCR) and/or multiplex ligation-dependent probe amplification (MLPA) for clinically typical PKD cases. We performed whole exome sequencing to reveal pathogenic variants in atypical PKD and pediatric cases as well as undiagnosed cases.


The mutation detection rate of the gene panel was 57.5%. Long-range PCR & PKD1 targeted exome sequencing were performed on 174 patients, which additionally documents pathogenic variants in 26 cases. Whole exome sequencing was performed in a total of 126 cases, and additional causative gene mutations were found in a total of 18 cases. Therefore, the final mutation detection rate through primary and secondary genetic analysis was 63%. In addition to the well-known PKD1 and PKD2 genes, GANAB, HNF1β, COL4A1, COL4A3, COL4A5, PAX2, UMOD, and IFT140 were discovered as cystogenesis-related genes. As for prognosis-related genes, PKD1 genotype was closely related to the poor prognosis of kidney disease, while PKD2, GANAB, and HNF1β were genotypes showing good prognosis. On the other hand, genotypes did not predict the severity of polycystic liver and cerebral aneurysms.


We found that the cyst formation-related gene panel was useful as a screening test and that genetic diagnosis can be useful for screening high-risk groups when the clinical prognosis is ambiguous.


  • Government Support – Non-U.S.