Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study

Hayne Cho Park, Hyunjin Ryu, Yong Chul Kim, Curie Ahn, Kyu Beck Lee, Yeong Hoon Kim, Yunmi Kim, Seungyeup Han, Yaerim Kim, Eun hui Bae, Seong Kwon Ma, Hee Gyung Kang, Yo Han Ahn, Eujin Park, Kyungjo Jeong, Jaewon Lee, Jungmin Choi, Kook Hwan Oh, Yun Kyu Oh

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Background: Inherited cystic kidney disease is a spectrum of disorders in which clusters of renal cysts develop as the result of genetic mutation. The exact methods and pipelines for defining genetic mutations of inherited cystic kidney disease are not clear at this point. This 3-year, prospective, multicenter, cohort study was designed to set up a cohort of Korean patients with inherited cystic kidney disease, establish a customized genetic analysis pipeline for each disease subtype, and identify modifying genes associated with the severity of the disease phenotype. Methods/design: From May 2020 to May 2022, we aim to recruit 800 patients and their family members to identify pathogenic mutations. Patients with more than 3 renal cysts in both kidneys are eligible to be enrolled. Cases of simple renal cysts and acquired cystic kidney disease that involve cyst formation as the result of renal failure will be excluded from this study. Demographic, laboratory, and imaging data as well as family pedigree will be collected at baseline. Renal function and changes in total kidney volume will be monitored during the follow-up period. Genetic identification of each case of inherited cystic kidney disease will be performed using a targeted gene panel of cystogenesis-related genes, whole exome sequencing (WES) and/or family segregation studies. Genotype-phenotype correlation analysis will be performed to elucidate the genetic effect on the severity of the disease phenotype. Discussion: This is the first nationwide cohort study on patients with inherited cystic kidney disease in Korea. We will build a multicenter cohort to describe the clinical characteristics of Korean patients with inherited cystic kidney disease, elucidate the genotype of each disease, and demonstrate the genetic effects on the severity of the disease phenotype. Trial registration: This cohort study was retrospectively registered at the Clinical Research Information Service (KCT0005580) operated by the Korean Center for Disease Control and Prevention on November 5th, 2020.

Original languageEnglish
Article number2
JournalBMC Nephrology
Volume22
Issue number1
DOIs
Publication statusPublished - 2021 Dec

Keywords

  • Cohort study
  • Cystic kidney disease
  • Genetic association studies
  • Genotype
  • Glomerular filtration rate
  • High-throughput nucleotide sequencing
  • Phenotype

ASJC Scopus subject areas

  • Nephrology

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