ASN's Mission

To create a world without kidney diseases, the ASN Alliance for Kidney Health elevates care by educating and informing, driving breakthroughs and innovation, and advocating for policies that create transformative changes in kidney medicine throughout the world.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005

email@asn-online.org

202-640-4660

The Latest on X

Kidney Week

Please note that you are viewing an archived section from 2021 and some content may be unavailable. To unlock all content for 2021, please visit the archives.

Abstract: PO1271

Targeted Exome Sequencing Application for Genetic Diagnosis of Pediatric Patients with Cystic Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic

Authors

  • Min, Jeesu, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Lee, Hyeonju, Seoul National University Hospital, Jongno-gu, Seoul, Korea (the Republic of)
  • Park, Peong Gang, Korea Ministry of Health and Welfare, Sejong, Sejong, Korea (the Republic of)
  • Ahn, Yo Han, Seoul National University Hospital, Jongno-gu, Korea (the Republic of)
  • Kang, Hee Gyung, Seoul National University Hospital, Jongno-gu, Korea (the Republic of)
  • Kim, Ji hyun, Seoul National University Bundang Hospital, Seongnam, Korea (the Republic of)
  • Park, Eujin, Hallym University Medical Center, Yeongdeongpo-gu, Seoul, Korea (the Republic of)
Background

Detection of a monogenic cause of chronic kidney disease accounts for almost 30% of cases in the pediatric cohort. Of these, the highest yield in the genetic diagnosis is currently seen in cystic kidney disease. Nearly 100 monogenic causes of renal cystic ciliopathies have been identified and the genetic diagnostic yield is reported to be approximately 50%. Here, we report the results of genetic testing in a cohort of Korean pediatric patients with cystic kidney disease.

Methods

From July 2019 to February 2021, children under the age of 18 with three or more cysts in both kidneys on imaging studies were recruited from three pediatric nephrology centers in Korea. Genetic identification was performed by targeted exome sequencing (TES) including 89 genes known as cystogenesis-related or causative-ciliopathy.

Results

A total of 46 pediatric patients with cystic kidney disease were recruited. The median age was 9.2 years (IQR, 5.49-14.53) and 60.9% were boys. Twelve patients (27.9%) had a family history of cystic kidney disease. The clinical diagnoses of the patients were 10 patients with autosomal dominant polycystic kidney disease, 5 patients with autosomal recessive polycystic kidney disease, 2 patients with multicystic dysplastic kidney, 1 patient with nephronophthisis, and the others were undiagnosed. The mutation detection rate was 52.2% (24 of 46). PKD1 was the most common causative gene (16 patients, 34.8 %), followed by HNF1B (3 patients), PAX2 (2 patients), PKD2 (1 patient), PKHD1 (1 patients) and NPHP3 (1 patient). Genetic mutations were identified in all patients (12 of 12) with a family history of cystic kidney disease. In patients without a family history, genetic mutations were found in 35.3 % (12 of 34).

Conclusion

The mutation detection rate in this cohort of Korean pediatric patients with cystic kidney disease was 52.2% by TES. Mutations in PKD1 were found most commonly, and the mutation detection rate was higher in patients with a family history of cystic kidney disease. For children with cystic kidney disease, molecular genetic testing is essential for an accurate diagnosis, personalized treatment, and prognosis prediction.

Funding

  • NIDDK Support