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Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system

Jia Rao1,2,3, Xiaorong Liu4,5, Jianhua Mao6

  • 1Department of Nephrology, Children's Hospital of Fudan University, National Pediatric Medical Center of China, Shanghai, China.

Clinical Genetics
|July 23, 2019
PubMed

Insights

Genetic testing diagnosed kidney disease in 42.1% of 1001 Chinese children. Trio-whole exome sequencing (WES) improved diagnostic rates, particularly for renal tubular disease and calcinosis.

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Genomic Medicine

Background:

  • Genetic kidney diseases are a significant cause of pediatric renal disease.
  • Accurate genetic diagnosis is crucial for targeted treatment and prognosis in children.
  • The genetic spectrum of kidney diseases in Chinese children remains incompletely characterized.

Purpose of the Study:

  • To investigate the diagnostic yield and approaches of genetic testing for renal disease in a national cohort of Chinese children.
  • To describe the genotype and phenotype spectrum of pediatric kidney diseases in China.
  • To establish a multicenter registration system for pediatric kidney disease.

Main Methods:

  • Recruitment of 1001 pediatric patients with suspected genetic renal disease from 13 regions in China (2014-2018).
  • Establishment of the Chinese Children Genetic Kidney Disease Database (CCGKDD).
  • Application of genetic testing methods including target gene sequencing (TGS), singleton whole-exome sequencing (WES), and trio-WES.

Main Results:

  • Genetic diagnosis was confirmed in 42.1% of the cohort.
  • 106 distinct monogenic disorders were identified, with 15 accounting for 60.7% of diagnoses.
  • Diagnostic yields varied by condition: 29.1% for steroid-resistant nephritic syndrome (SRNS), 61.4% for cystic renal disease, 17.0% for congenital anomalies of the kidney and urinary tract (CAKUT), 62.3% for renal tubular disease/renal calcinosis, and 23.9% for CKD stages 3-5 of unknown origin.
  • Trio-WES demonstrated a higher diagnostic rate (42.6%) compared to singleton WES (36.2%) and TGS (44.8%), with significant improvement in renal tubular disease and calcinosis.

Conclusions:

  • Genetic testing is highly effective in diagnosing renal disease in Chinese children, with a significant diagnostic yield.
  • The establishment of the CCGKDD facilitates comprehensive genetic investigation and research in pediatric kidney diseases.
  • Early implementation of trio-WES can enhance diagnostic accuracy, especially for complex genetic renal conditions.

Keywords:
chronic kidney disease (CKD)congenital anomalies of the kidney and urinary tract (CAKUT)geneticsnephronophthisis (NPHP)polycystic kidney disease PKDrenal diseasesingleton-WESsteroid-resistant nephrotic syndrome (SRNS)targeted gene sequence (TGS)trio approach for WES (trio-WES)whole-exome sequence (WES)

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