Kidney Week

Abstract: SA-PO0108

Whole-Genome Sequencing in Patients with ADPKD: A Chinese Cohort in Hong Kong

Session Information

• ADPKD and Cystic Kidney Disease - 3
  October 24, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Cystic (Monogenic)

Authors

• Ma, Becky Mingyao, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong

Becky Mingyao Ma, MBBS

• Zhao, Norah Xianghui, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong

Norah Xianghui Zhao

• Tam, Helen, Hong Kong Genome Institute, Hong Kong, Hong Kong

Helen Tam

• Ma, Wei, Hong Kong Genome Institute, Hong Kong, Hong Kong

Wei Ma

• Kwok, Jamie, Hong Kong Genome Institute, Hong Kong, Hong Kong

Jamie Kwok

• Hue, Shirley, Hong Kong Genome Institute, Hong Kong, Hong Kong

Shirley Hue

• Tong, Amy, Hong Kong Genome Institute, Hong Kong, Hong Kong

Amy Tong

• Ying, Dingge, Hong Kong Genome Institute, Hong Kong, Hong Kong

Dingge Ying, PhD

• Tse, Desiree, Hong Kong Genome Institute, Hong Kong, Hong Kong

Desiree Tse

• Yap, Yat Hin Desmond, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong

Yat Hin Desmond Yap, MD, MBBS, PhD, FASN

• Chung, Brian, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong

Brian Chung

• Chan, Tak Mao Daniel, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong

Tak Mao Daniel Chan, MD, FASN

Background

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic cause of kidney failure, yet genetic data from Asian populations remains limited. We investigate the diagnostic yield of Whole Genome Sequencing (WGS) and genotype-phenotype correlations in a cohort of Chinese ADPKD patients in Hong Kong.

Methods

130 self-identified Chinese ADPKD patients at Queen Mary Hospital, Hong Kong, underwent WGS from 1 Oct 2022 to 1 Oct 2024. Diagnostic variants were defined as Pathogenic/ Likely Pathogenic variants by the American College of Medical Genetics criteria. Correlations were investigated with demographic and clinical data including kidney function and imaging results.

Results

Diagnostic variants were found in 90 patients, giving a diagnostic yield of 69%. The majority (n=54, 60%) harbor diagnostic variants on PKD1, followed by PKD2 (n=26, 29%), IFT140 (n=6, 7%), ALG9 (n=3, 3%) and ALG8 (n=1, 1%). No founder variant or mutation hotspot had been identified. Patients with PKD1 variants presented at a younger age compared to the rest of the cohort (p<0.001); and they showed eGFR decline by 30% from baseline at a younger age, compared to patients with PKD2 or atypical ADPKD gene variants (p<0.001).

Conclusion

WGS in Hong Kong Chinese ADPKD patients gives a diagnostic yield of 69%. Patients with PKD1 diagnostic variants present earlier and have worse kidney outcome compared with others.

Acknowledgment

We would like to thank the patients who contributed to the study by providing genomic and electronic health information.