Clinical Genetic Testing in Children with Kidney Disease
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Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies account for a substantial proportion of pediatric chronic kidney disease. With recent advances in genetic testing techniques, an increasing number of genetic causes of kidney disease continue to be found. Genetic testing is recommended in children with steroid-resistant nephrotic syndrome, congenital malformations of the kidney and urinary tract, cystic disease, or kidney disease with extrarenal manifestations. Diagnostic yields differ according to the category of clinical diagnosis and the choice of test. Here, we review the characteristics of genetic testing modalities and the implications of genetic testing in clinical genetic diagnostics.
Abstract
Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies account for a substantial proportion of pediatric chronic kidney disease. With recent advances in genetic testing techniques, an increasing number of genetic causes of kidney disease continue to be found. Genetic testing is recommended in children with steroid-resistant nephrotic syndrome, congenital malformations of the kidney and urinary tract, cystic disease, or kidney disease with extrarenal manifestations. Diagnostic yields differ according to the category of clinical diagnosis and the choice of test. Here, we review the characteristics of genetic testing modalities and the implications of genetic testing in clinical genetic diagnostics.
참고문헌 (56)
- Andrassy KM, "Comments on 'KDIGO 2012 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease'", Kidney Int, 84, pp.622~623 (2013)
- Mong Hiep TT, "Clinical characteristics and outcomes of children with stage 3-5 chronic kidney disease", Pediatr Nephrol, 25, pp.935~940 (2010)
- Weaver DJ, "Cardiovascular Disease in Children and Adolescents With Chronic Kidney Disease", Semin Nephrol, 38, pp.559~569 (2018)
- Ruidiaz-Gómez KS, "Impact of chronic kidney disease on health-related quality of life in the pediatric population:meta-analysis", J Pediatr (Rio J) (2020)
- Vivante A, "Exploring the genetic basis of earlyonset chronic kidney disease", Nat Rev Nephrol, 12, pp.133~146 (2016)
- Harambat J, "Epidemiology of chronic kidney disease in children", Pediatr Nephrol, 27, pp.363~373 (2012)
- Smith JM, "Contributions of the Transplant Registry : The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies(NAPRTCS)", Pediatr Transplant, 11, pp.366~373 (2007)
- McClellan WM, "Individuals with a family history of ESRD are a highrisk population for CKD : implications for targeted surveillance and intervention activities", Am J Kidney Dis, 53, pp.S100~S106 (2009)
- Connaughton DM, "The Irish Kidney Gene Project--Prevalence of Family History in Patients with Kidney Disease in Ireland", Nephron, 130, pp.293~301 (2015)
- Connaughton DM, "Personalized medicine in chronic kidney disease by detection of monogenic mutations", Nephrology Dialysis Transplantation, 35, pp.390~397 (2019)
- Rasouly HM, "The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing", Ann Intern Med, 170, pp.11~21 (2019)
- Venter JC, "The Sequence of the Human Genome", Science, 291, pp.1304~1351 (2001)
- Stankiewicz P, "Structural variation in the human genome and its role in disease", Annu Rev Med, 61, pp.437~455 (2010)
- Miller DT, "Consensus statement : chromosomal microarray is a firsttier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies", Am J Hum Genet, 86, pp.749~764 (2010)
- Hays T, "Genetic testing for kidney disease of unknown etiology", Kidney Int, 98, pp.590~600 (2020)
- Verbitsky M, "The copy number variation landscape of congenital anomalies of the kidney and urinary tract", Nat Genet, 51, pp.117~127 (2019)
- Sanna-Cherchi S, "Copy-number disorders are a common cause of congenital kidney malformations", Am J Hum Genet, 91, pp.987~997 (2012)
- Caruana G, "Copy-number variation associated with congenital anomalies of the kidney and urinary tract", Pediatr Nephrol, 30, pp.487~495 (2015)
- Wang XV, "Estimation of sequencing error rates in short reads", BMC Bioinformatics, 13, pp.185~ (2012)
- Goodwin S, "Coming of age : ten years of next-generation sequencing technologies", Nature Reviews Genetics, 17, pp.333~351 (2016)
- Artuso R, "Advances in Alport syndrome diagnosis using next-generation sequencing", Eur J Hum Genet, 20, pp.50~57 (2012)
- McCarthy HJ, "Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome", Clin J Am Soc Nephrol, 8, pp.637~648 (2013)
- Otto EA, "Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy", J Med Genet, 48, pp.105~116 (2011)
- Murray SL, "Integration of genetic and histopathology data in interpretation of kidney disease", Nephrol Dial Transplant, 35, pp.1113~1132 (2020)
- Ahn YH, "Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract", Journal of Clinical Medicine, 9, pp.751~ (2020)
- Sen ES, "Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel : analysis and recommendations", J Med Genet, 54, pp.795~804 (2017)
- Park E, "Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis", Journal of Clinical Medicine, 9, pp.2013~ (2020)
- Bullich G, "A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases", Kidney Int, 94, pp.363~371 (2018)
- Landini S, "Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome", Clin J Am Soc Nephrol, 15, pp.89~100 (2020)
- Warejko JK, "Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome", Clin J Am Soc Nephrol, 13, pp.53~62 (2018)
- Zhou B, "Wholegenome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis", J Med Genet, 55, pp.735~743 (2018)
- Meienberg J, "Clinical sequencing:is WGS the better WES?", Hum Genet, 135, pp.359~362 (2016)
- Baker SW, "Automated Clinical Exome Reanalysis Reveals Novel Diagnoses", J Mol Diagn, 21, pp.38~48 (2019)
- Rao J, "Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system", Clin Genet, 96, pp.402~410 (2019)
- Mann N, "Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients", J Am Soc Nephrol, 30, pp.201~215 (2019)
- Groopman EE, "Diagnostic Utility of Exome Sequencing for Kidney Disease", N Engl J Med, 380, pp.142~151 (2019)
- Lionel AC, "Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test", Genet Med, 20, pp.435~443 (2018)
- Sadowski CE, "A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome", J Am Soc Nephrol, 26, pp.1279~1289 (2015)
- Ali H, "PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Poly cystic Kidney Disease", Scientific Reports, 9, pp.4141~ (2019)
- Kingsmore SF, "A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants", Am J Hum Genet, 105, pp.719~733 (2019)
- Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genetics in medicine : official journal of the American College of Medical Genetics, 17, pp.405~424 (2015)
- Deignan JL, "Points to consider in the reevaluation and reanalysis of genomic test results : a statement of the American College of Medical Genetics and Genomics(ACMG)", Genet Med, 21, pp.1267~1270 (2019)
- SoRelle JA, "Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients", JAMA Pediatr, 173, pp.e182302~ (2019)
- Kalia SS, "Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics", Genet Med, 19, pp.249~255 (2017)
- "Ethical and policy issues in genetic testing and screening of children", Pediatrics, 131, pp.620~622 (2013)
- Tan W, "Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome", Pediatr Nephrol (2021)[DOI]
- Madariaga L, "Variable phenotype in HNF1B mutations : extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract", Clin Kidney J, 12, pp.373~379 (2019)
- Sanyanusin P, "Mutation of PAX2 in two siblings with renal-coloboma syndrome", Hum Mol Genet, 4, pp.2183~2184 (1995)
- Ruf RG, "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes", Proc Natl Acad Sci U S A, 101, pp.8090~8095 (2004)
- Kohlhase J, "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome", Nat Genet, 18, pp.81~83 (1998)
- Van Esch H, "GATA3 haplo-insufficiency causes human HDR syndrome", Nature, 406, pp.419~422 (2000)
- Chernin G, "Genotype", phenotype correlation in nephrotic syndrome caused by WT1 mutations, 2010, pp.5, 1655~1662
- ACMG Board of Directors, "Points to consider for informed consent for genome", exome sequencing, 2013, pp.15, 748~749
- Connaughton DM, "Monogenic causes of chronic kidney disease in adults", Kidney Int, 95, pp.914~928 (2019)
- Hae Il Cheong, "Genetic tests in children with steroid-resistant nephrotic syndrome", Kidney Research and Clinical Practice, 39(1), pp.7~16 (2020), 대한신장학회[DOI]
- Aymé S, "Common Elements in Rare Kidney Diseases:Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference", Kidney Int, 92, pp.796~808 (2017)
