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Kidney Week

Abstract: SA-PO550

Korean Cohort of Genetic Kidney Diseases

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Woo, Hyun Ah, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Kang, Hee Gyung, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Ahn, Yo Han, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Min, Jeesu, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Choi, Naye, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Lee, Hyeonju, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Kang, Haemin, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Lim, Seon Hee, The Korean Society of Nephrology, Seoul, Korea (the Republic of)
  • Kim, Ji hyun, Seoul National University Bundang Hospital, Seongnam, GyeongGi, Korea (the Republic of)
Background

Genetic causes comprise a significant proportion of chronic kidney diseases (CKD). According to ethnicity, the composition can vary. Here, we report on Korea's nationwide composition of genetic kidney diseases in Korea.

Methods

In this multicenter cohort study, we investigated the genetic diagnosis of Korean patients with known or putative genetic kidney diseases and CKD of unknown origin. For known genetic kidney disease patients, clinical information, causative genes, and their responsible variants were collected, and for those without a genetic diagnosis, whole-exome sequencing was applied for genetic diagnosis.

Results

Genetic causes were identified in 1040 patients (male:female=1.3:1). Clinical diagnose of genetic kidney diseases of Korea were as follows. Glomerulonephritis (24.9% of 1040 patients), tubulopathy (24.4%), cystic kidney disease (4.8%), and others (45.9%) including hypophosphatemic rickets or renal glycosuria. 118 genes were identified and the most common causative genes of Korean genetic kidney diseases were as follows. In glomerulonephritis: COL4A5 (53.7% of glomerulonephritis), NPHS1 (5.0%), NUP107 (5.0%), COL4A4 (4.6%), WT1 (4.6%), COL4A3 (4.2%), and others. In tubulopathy: SLC12A3 (33% of tubulopathy), AVPR2 (15%) CLCN5 (15%), CLCNKB (11.4%), OCRL (11%), and others. In cystic kidney disease: PKD1 (20% of cystic kidney disease), PKHD1 (16%), and others. In others: PHEX (10% of others), SLC5A2 (6.9%), and others. For 201 cases of CKD with unknown origin, 71 cases (35.3% of the unknown origin CKD patients) obtained genetic diagnosis using whole-exome sequencing, identifying pathogenic or likely-pathogenic variants in COL4A5 (n=11, 15.5% of 71 cases), COL4A4 (n=10), PAX2 (n=5), COL4A3 (n=4), CUBN (n=3), NPHS1 (n=3), WT1 (n=3), and others. Compared to the literature, prevalence of NPHP2 was lower than the reports of Caucasian, and distal renal-tubular acidosis was lower than the reports of Southern Asia.

Conclusion

Identifying the characteristics of genetic kidney diseases of a certain ethnicity through establishing a national registry would facilitate early diagnoses and proper management of theses rare kidney diseases.

Funding

  • Government Support – Non-U.S.