Kidney Research and Clinical Practice 2020 Mar; 39(1): 7-16  
Genetic tests in children with steroid-resistant nephrotic syndrome
Hae Il Cheong1,2
1Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Republic of Korea
2Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Republic of Korea
Correspondence to: Hae Il Cheong
Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea. E-mail: cheonghi@snu.ac.kr

Edited by Soo Wan Kim, Chonnam National University, Gwangju, Republic of Korea
Received: January 3, 2020; Revised: February 7, 2020; Accepted: February 19, 2020; Published online: March 31, 2020.
© The Korean Society of Nephrology. All rights reserved.

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease in children, and a considerable number of patients progress to end-stage renal disease. SRNS is a highly heterogeneous disorder, both clinically and genetically, and more than 50 monogenic causes of SRNS, including isolated and syndromic forms, have been identified. Recent large-cohort studies indicate that at least 30% of childhood-onset SRNS cases are genetic. The benefits of definitive molecular diagnosis by genetic testing include the avoidance of unnecessary and potentially harmful diagnostic procedures (e.g., kidney biopsy) and treatment (e.g., steroid and immunosuppressants), detection of rare and potentially treatable mutations (e.g., coenzyme Q10 biosynthesis pathway defect), prediction of prognosis (e.g., posttransplant recurrence), and providing precise genetic counseling. Furthermore, the identification of novel disease-causing genes could provide new insights into the pathogenic mechanisms of SRNS. Therefore, whenever accessible and affordable, genetic testing is recommended for all pediatric patients with SRNS, and should certainly be performed in patients with a higher probability of genetic predisposition based on genotype-phenotype correlation data. The genetic testing approach should be determined for each patient, and clinicians should, therefore, be aware of the advantages and disadvantages of methods currently available, which include Sanger sequencing, gene panel testing, and whole-exome or whole-genome sequencing. Importantly, the need for precise and thorough phenotyping by clinicians, even in the era of genomics, cannot be overemphasized. This review provides an update on recent advances in genetic studies, a suggested approach for the genetic testing of pediatric patients with SRNS.
Keywords: High-throughput nucleotide sequencing, Phenocopy, Reverse phenotyping, Sanger sequencing, Steroid-resistant nephrotic syndrome


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