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Genetic Testing in Pediatric Kidney Disease

Abstract

The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS). It is realized now that genetic disorders contribute to about 30% of chronic renal diseases in children, and significantly to many other kidney disorders. This paper covers briefly the new genetic technologies, the benefits of genetic testing, and the indication for genetic testing in various kidney disorders. It covers SRNS, congenital anomalies of the kidney, cystic kidney disease, tubulopathies, nephronophthisis, Fabry disease, Alport and Lowe syndrome. Atypical hemolytic uremic syndrome, renal tubular acidosis and nephrolithiasis are also covered briefly. It is hoped that this paper will encourage the pediatricians to investigate monogenic disorders of the kidney as it helps in their proper classification, informs prognosis, suggests specific treatment and aids in genetic and reproductive counseling.

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Author information

Each author wrote 1/3rd of the paper, the part pertaining to their area of expertise. The guarantor of the paper is Dr. Sunita Bijarnia, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi.

Correspondence to Ishwar Chander Verma.

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Arora, V., Anand, K. & Chander Verma, I. Genetic Testing in Pediatric Kidney Disease. Indian J Pediatr (2020). https://doi.org/10.1007/s12098-020-03198-y

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Keywords

  • Genetic testing
  • Genetic disorders
  • Pediatric kidney disease
  • SRNS
  • CAKUT
  • Tubulopathies
  • Atypical hemolytic uremic syndrome
  • RTA
  • Alport syndrome
  • Next gene sequencing