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Abstract: TH-PO358

Inherited Cystic Kidney Diseases Database for Individualized Genetic Analysis: Baseline Characteristics

Session Information

Category: Genetic Diseases of the Kidneys

  • 1101 Genetic Diseases of the Kidneys: Cystic

Authors

  • Cho, Jeongmin, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Kim, Yong Chul, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Oh, Kook-Hwan, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Ahn, Curie, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Lee, Kyu-Beck, Kangbuk Samsung Medical Center, Jongno-gu, Seoul, Korea (the Republic of)
  • Kim, Yaerim, Keimyung University School of Medicine, Daegu, Korea (the Republic of)
  • Bae, Eun Hui, Chonnam National University Hospital, Gwangju, Korea (the Republic of)
  • Kang, Hee Gyung, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Ahn, Yo Han, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Oh, Yun Kyu, Seoul National University Seoul Metropolitan Government Boramae Medical Center, Dongjak-gu, Seoul, Korea (the Republic of)
Background

Inherited cystic kidney disease (iCKD) is a genetic disorder caused by mutation of genes related to function of cilium resulting in renal and extrarenal cysts. Identification of iCKD genes in each case is necessary for precise treatment. However, pipeline for individualized genetic analysis has not been established yet.

Methods

This is a 3-year prospective, multicenter cohort study at 11 hospitals from May 2019 to December 2021. Patients with over 3 renal cysts in both kidneys were enrolled. Baseline demographics, co-morbidities, kidney complications, volume of kidney and liver, and genetic profiles are investigated.

Results

A total of 805 patients were enrolled. Clinically typical polycystic kidney disease (PKD) were 71.1% (577) whereas 21.1% (170) were atypical with absence of a family history or atypical findings in CT. Pediatric patients were 7.2% (58) (Figure 1). Median age of individuals was 45 years and 49.6% were male. Average eGFR was 75.3 ± 33.4 mL/min/1.73m2. Median (25-75th percentile) total kidney volume (TKV) and total liver volume (TLV) were 1085.0 (595.0-1784) mL and 1557.0 (1277.0-2163.0) mL. Distribution by Mayo classification was as follows: 1A 108 (14.9%), 1B 198 (27.4%), 1C 234 (32.3%), 1D 111 (15.3%), and 1E 73 (10.1%). A total of 23 genes including PKD1, NV, PKD2, DM, COL4A5 were identified in 545 patients using targeted gene panel of 89 genes related to cilopathy (Figure 2). PKD1 mutation increased from 15.3% of Mayo 1A to 70.0% of 1E. PKD1 mutation was correlated with cyst infection, kidney pain, and cyst hemorrhage.

Conclusion

This is the first nationwide cohort for Korean iCKD. We report the baseline characteristics and genetic findings prior to detailed molecular analysis.

Figure 1. Clinical classification of overall participants (n=805)

Figure 2. Gene distribution by targeted gene panel of 89 cystogenesis-related genes (n=545)

Funding

  • Government Support – Non-U.S.