Dataset Information

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

ABSTRACT:

Background

Congenital anomalies of the kidney and urinary tracts (CAKUT) are the leading cause of kidney failure in children with phenotypic and genotypic heterogeneity. Our objective was to describe the genetic spectrum and identify the risk factors for kidney failure in children with CAKUT.

Methods

Clinical and genetic data were derived from a multicenter network (Chinese Children Genetic Kidney Disease Database, CCGKDD) and the Chigene database. A total of 925 children with CAKUT who underwent genetic testing from 2014 to 2020 across China were studied. Data for a total of 584 children wereobtained from the CCGKDD, including longitudinal data regarding kidney function. The risk factors for kidney failure were determined by the Kaplan-Meier method and Cox proportional hazards models.

Results

A genetic diagnosis was established in 96 out of 925 (10.3%) children, including 72 (8%) with monogenic variants, 20 (2%) with copy number variants (CNVs), and 4 (0.4%)with major chromosomal anomalies. Patients with skeletal abnormalities were more likely to have large CNVs or abnormal karyotypes than monogenic variants. Eighty-two patients from the CCGKDD progressed to kidney failure at a median age of 13.0 (95% confidence interval, 12.4-13.6) years, and twenty-four were genetically diagnosed with variants of PAX2, TNXB, EYA1, HNF1B and GATA3 or the 48, XXYY karyotype. The multivariate analysis indicated that solitary kidney, posterior urethral valves, bilateral hypodysplasia, the presence of certain variants and premature birth were independent prognostic factors.

Conclusions

The genetic spectrum of CAKUT varies among different subphenotypes. The identified factors indicate areas that require special attention.

SUBMITTER: Liu JL

PROVIDER: S-EPMC10468753 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Publications

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Liu Jia-Lu JL Wang Xiao-Wen XW Liu Cui-Hua CH Gao Duan Ma Xiao-Jie DMX Jiang Xiao-Yun XY Mao Jian-Hua JH Zhu Guang-Hua GH Zhang Ai-Hua AH Wang Mo M Dang Xi-Qiang XQ Zhuang Jie-Qiu JQ Li Yu-Feng YF Bai Hai-Tao HT Zhang Rui-Feng RF Shen Tong T Bi Yun-Li YL Sun Yu-Bo YB Wang Xiang X Wu Bing-Bing BB Chen Jing J Rao Jia J Tang Xiao-Shan XS Shen Qian Q Xu Hong H

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 20221222

<h4>Background</h4>Congenital anomalies of the kidney and urinary tracts (CAKUT) are the leading cause of kidney failure in children with phenotypic and genotypic heterogeneity. Our objective was to describe the genetic spectrum and identify the risk factors for kidney failure in children with CAKUT.<h4>Methods</h4>Clinical and genetic data were derived from a multicenter network (Chinese Children Genetic Kidney Disease Database, CCGKDD) and the Chigene database. A total of 925 children with CAK ...[more]

PMID: 36549658

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Dataset Information

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Background

Methods

Results

Conclusions

Publications

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Similar Datasets

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