Department of Internal Medicine, Hallym University College of Medicine, Seoul, South Korea.
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, South Korea.
BMC Nephrol. 2021 Jan 6;22(1):2. doi: 10.1186/s12882-020-02207-8.
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.
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.
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.
遗传性囊性肾病是一组疾病，其特征为簇状肾囊肿的形成，这是由于基因突变所致。目前，尚不清楚明确遗传性囊性肾病基因突变的具体方法和流程。本研究是一项为期 3 年的前瞻性多中心队列研究，旨在建立一个韩国遗传性囊性肾病患者队列，为每个疾病亚型建立定制的基因分析流程，并确定与疾病表型严重程度相关的修饰基因。
方法/设计：从 2020 年 5 月至 2022 年 5 月，我们计划招募 800 名患者及其家属以确定致病突变。招募双侧肾脏中存在超过 3 个肾囊肿的患者。本研究将排除单纯性肾囊肿和因肾功能衰竭导致囊肿形成的获得性囊性肾病病例。在基线时收集人口统计学、实验室和影像学数据以及家族病史。在随访期间监测肾功能和总肾体积的变化。使用与囊肿形成相关基因的靶向基因panel、全外显子组测序（WES）和/或家系分离研究对每个遗传性囊性肾病病例进行基因鉴定。将进行基因型-表型相关性分析，以阐明遗传对疾病表型严重程度的影响。
这是韩国首例关于遗传性囊性肾病患者的全国性队列研究。我们将建立一个多中心队列，以描述韩国遗传性囊性肾病患者的临床特征，阐明每种疾病的基因型，并证明遗传对疾病表型严重程度的影响。
本队列研究于 2020 年 11 月 5 日由韩国疾病控制和预防中心运营的临床研究信息服务（KCT0005580）进行了回顾性注册。
