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Kidney Week

Abstract: SA-PO549

Underlying Genetic Causes of Adult Patients With ESKD Undergoing Hemodialysis Therapy

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

  • Fujimaru, Takuya, Tokyo Medical and Dental University, Tokyo, Japan
  • Mori, Takayasu, Tokyo Medical and Dental University, Tokyo, Japan
  • Chiga, Motoko, Tokyo Medical and Dental University, Tokyo, Japan
  • Mandai, Shintaro, Tokyo Medical and Dental University, Tokyo, Japan
  • Ando, Fumiaki, Tokyo Medical and Dental University, Tokyo, Japan
  • Mori, Yutaro, Tokyo Medical and Dental University, Tokyo, Japan
  • Susa, Koichiro, Tokyo Medical and Dental University, Tokyo, Japan
  • Nakano, Yuta, Tokyo Medical and Dental University, Tokyo, Japan
  • Shoji, Takao, Miura Seaside Clinic, Kanagawa, Japan
  • Fukudome, Yuichiro, Zushi Sakurayama Clinic, Kanagawa, Japan
  • Inaba, Naoto, Kitakurihama Takuchi Clinic, Kanagawa, Japan
  • Kitamura, Kenichiro, Kitakurihama Takuchi Clinic, Kanagawa, Japan
  • Nakanishi, Taichi, Kitakurihama Takuchi Clinic, Kanagawa, Japan
  • Kimura, Toshihiro, Yokosuka Clinic, Kanagawa, Japan
  • Tamura, Teiichi, Yokosuka Clinic, Kanagawa, Japan
  • Ozawa, Kiyoshi, Yokosuka Clinic, Kanagawa, Japan
  • Uchida, Shinichi, Tokyo Medical and Dental University, Tokyo, Japan
  • Sohara, Eisei, Tokyo Medical and Dental University, Tokyo, Japan
Background

Recent progress of genetic studies gradually reveals true causes of chronic kidney disease (CKD). In the general CKD population, it has become clear that about 10% of patients carry some responsible genetic variants, and further most of them are limited genes such as PKD1, PKD2, or COL4As. End-stage kidney disease (ESKD) is the ultimate phenotype of CKD, and conducting genetic analysis focusing on the population undergoing hemodialysis leads to the evaluation of key genes that have an influence on ESKD. To clarify underlying true cause of adult patients with ESKD, we performed panel-based comprehensive genetic analysis on hemodialysis patients.

Methods

Four dialysis clinics in Japan were included. The study was limited to patients who were introduced to hemodialysis during adulthood between the ages of 20 and 49. Of the 238 patients, the patients with a clear diagnosis of primary disease for ESKD were excluded, and 114 patients were included our study. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 212 genes responsible for hereditary kidney diseases.

Results

Eleven patients (12%) out of the 92 were elucidated to have responsible gene variants, leading to definite genetic diagnosis. Of them, 6 and 1 patients carried causal pathogenic variants in PKD1 and NPHP1, respectively. One of the patients with the PKD1 variant also had the COL4A4 pathogenic variant. All with PKD1 variants did not have family history of kidney cysts. In addition, 4 patients, FSGS due to WT1 variant, ADTKD due to UMOD variant, Alport syndrome due to COL4A3 and COL4A4 variants, and Fabry disease due to GLA variant were included. With the exception of polycystic kidney disease, these diagnoses had not been clinically obtained.

Conclusion

Focusing on ESKD patients, the proportion of those with a genetic cause was high. Among the patients who have been introduced to dialysis in adulthood, there are various kinds of undiagnosed hereditary renal diseases. From the viewpoint of genetic counseling and complication management, accurate diagnosis by comprehensive genetic analysis is extremely important.

Funding

  • Government Support – Non-U.S.