{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:13:04Z","timestamp":1707523984282},"reference-count":36,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,31]]},"DOI":"10.7759\/cureus.44490","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T04:20:41Z","timestamp":1693542041000},"source":"Crossref","is-referenced-by-count":0,"title":["The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications"],"prefix":"10.7759","author":[{"given":"Sultan A","family":"Alharbi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abduljabbar    M","family":"Alshenqiti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali H","family":"Asiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Musaed A","family":"Alqarni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saad A","family":"Alqahtani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-023-00456-w","article-title":"The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution","volume":"17","author":"Vaisitti T","year":"2023","unstructured":"Vaisitti T, Bracciam\u00e0 V, Faini AC, et al.. The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution. Hum Genomics. 2023, 17:10. 10.1186\/s40246-023-00456-w","journal-title":"Hum Genomics"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jnma.2022.05.002","article-title":"Chronic kidney disease emerging trends in children and what to do about it","volume":"114","author":"Beng-Ongey H","year":"2022","unstructured":"Beng-Ongey H, Robinson JS, Moxey-Mims M. Chronic kidney disease emerging trends in children and what to do about it. J Natl Med Assoc. 2022, 114:S50-5. 10.1016\/j.jnma.2022.05.002","journal-title":"J Natl Med Assoc"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0269632","article-title":"Chronic kidney disease causes and outcomes in children: perspective from a LMIC setting","volume":"17","author":"Amanullah F","year":"2022","unstructured":"Amanullah F, Malik AA, Zaidi Z. Chronic kidney disease causes and outcomes in children: perspective from a LMIC setting. PLoS One. 2022, 17:e0269632. 10.1371\/journal.pone.0269632","journal-title":"PLoS One"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfw047","article-title":"Chronic kidney disease in children","volume":"9","author":"Becherucci F","year":"2016","unstructured":"Becherucci F, Roperto RM, Materassi M, Romagnani P. Chronic kidney disease in children. Clin Kidney J. 2016, 9:583-91. 10.1093\/ckj\/sfw047","journal-title":"Clin Kidney J"},{"key":"ref5","article-title":"Pattern and outcome of renal diseases in hospitalized children in Tikur Anbessa Specialized Teaching Hospital, Addis Ababa, Ethiopia","volume":"54","author":"Mola K","year":"2016","unstructured":"Mola K, Shimelis D. Pattern and outcome of renal diseases in hospitalized children in Tikur Anbessa Specialized Teaching Hospital, Addis Ababa, Ethiopia. Ethiop Med J. 2016, 54:117-23.","journal-title":"Ethiop Med J"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.4103\/1319-2442.178565","article-title":"Pattern of renal diseases in children: a developing country experience","volume":"27","author":"Yadav SP","year":"2016","unstructured":"Yadav SP, Shah GS, Mishra OP, Baral N. Pattern of renal diseases in children: a developing country experience. Saudi J Kidney Dis Transpl. 2016, 27:371-6. 10.4103\/1319-2442.178565","journal-title":"Saudi J Kidney Dis Transpl"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1721439","article-title":"Genetic testing in the pediatric nephrology clinic: understanding families' experiences","volume":"11","author":"Nevin SM","year":"2022","unstructured":"Nevin SM, McLoone J, Wakefield CE, Kennedy SE, McCarthy HJ. Genetic testing in the pediatric nephrology clinic: understanding families' experiences. J Pediatr Genet. 2022, 11:117-25. 10.1055\/s-0040-1721439","journal-title":"J Pediatr Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00438-022-01897-z","article-title":"Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort","volume":"297","author":"Huang L","year":"2022","unstructured":"Huang L, Qi C, Zhu G, et al.. Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Mol Genet Genomics. 2022, 297:1049-61. 10.1007\/s00438-022-01897-z","journal-title":"Mol Genet Genomics"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2163","article-title":"New insights from trio whole-exome sequencing in the children with kidney disease: a single-center retrospective cohort study","volume":"11","author":"Chen Y","year":"2023","unstructured":"Chen Y, Zhang Y, Huang J, et al.. New insights from trio whole-exome sequencing in the children with kidney disease: a single-center retrospective cohort study. Mol Genet Genomic Med. 2023, 11:e2163. 10.1002\/mgg3.2163","journal-title":"Mol Genet Genomic Med"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.34067\/KID.0002272020","article-title":"Clinical utility of genetic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases","volume":"2","author":"Bekheirnia N","year":"2021","unstructured":"Bekheirnia N, Glinton KE, Rossetti L, et al.. Clinical utility of genetic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases. Kidney360. 2021, 2:90-104. 10.34067\/KID.0002272020","journal-title":"Kidney360"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13606","article-title":"Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system","volume":"96","author":"Rao J","year":"2019","unstructured":"Rao J, Liu X, Mao J, et al.. Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system. Clin Genet. 2019, 96:402-10. 10.1111\/cge.13606","journal-title":"Clin Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.933636","article-title":"Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases","volume":"13","author":"Gao M","year":"2022","unstructured":"Gao M, Yu F, Dong R, et al.. Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases. Front Genet. 2022, 13:933636. 10.3389\/fgene.2022.933636","journal-title":"Front Genet"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.07540715","article-title":"Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis","volume":"11","author":"Braun DA","year":"2016","unstructured":"Braun DA, Lawson JA, Gee HY, et al.. Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis. Clin J Am Soc Nephrol. 2016, 11:664-72. 10.2215\/CJN.07540715","journal-title":"Clin J Am Soc Nephrol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2015.219","article-title":"Kidney disease in children: latest advances and remaining challenges","volume":"12","author":"Bertram JF","year":"2016","unstructured":"Bertram JF, Goldstein SL, Pape L, Schaefer F, Shroff RC, Warady BA. Kidney disease in children: latest advances and remaining challenges. Nat Rev Nephrol. 2016, 12:182-91. 10.1038\/nrneph.2015.219","journal-title":"Nat Rev Nephrol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2016.8","article-title":"Kidney stones","volume":"2","author":"Khan SR","year":"2016","unstructured":"Khan SR, Pearle MS, Robertson WG, et al.. Kidney stones. Nat Rev Dis Primers. 2016, 2:16008. 10.1038\/nrdp.2016.8","journal-title":"Nat Rev Dis Primers"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015040367","article-title":"The vacuolar H+-ATPase B1 subunit polymorphism p.E161K associates with impaired urinary acidification in recurrent stone formers","volume":"27","author":"Dhayat NA","year":"2016","unstructured":"Dhayat NA, Schaller A, Albano G, et al.. The vacuolar H+-ATPase B1 subunit polymorphism p.E161K associates with impaired urinary acidification in recurrent stone formers. J Am Soc Nephrol. 2016, 27:1544-54. 10.1681\/ASN.2015040367","journal-title":"J Am Soc Nephrol"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016050576","article-title":"Progress in understanding the genetics of calcium-containing nephrolithiasis","volume":"28","author":"Sayer JA","year":"2017","unstructured":"Sayer JA. Progress in understanding the genetics of calcium-containing nephrolithiasis. J Am Soc Nephrol. 2017, 28:748-59. 10.1681\/ASN.2016050576","journal-title":"J Am Soc Nephrol"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2017.167","article-title":"Genomic medicine for kidney disease","volume":"14","author":"Groopman EE","year":"2018","unstructured":"Groopman EE, Rasouly HM, Gharavi AG. Genomic medicine for kidney disease. Nat Rev Nephrol. 2018, 14:83-104. 10.1038\/nrneph.2017.167","journal-title":"Nat Rev Nephrol"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1089\/end.2020.0108","article-title":"Initial results from the M-STONE group: a multi-center collaboration to study treatment outcomes in nephrolithiasis evaluation","volume":"34","author":"Johnson BA","year":"2020","unstructured":"Johnson BA, Best SL, Nakada SY, et al.. Initial results from the M-STONE group: a multi-center collaboration to study treatment outcomes in nephrolithiasis evaluation. J Endourol. 2020, 34:919-23. 10.1089\/end.2020.0108","journal-title":"J Endourol"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/s2352-4642(18)30283-9","article-title":"Management of steroid-resistant nephrotic syndrome in children and adolescents","volume":"2","author":"Tullus K","year":"2018","unstructured":"Tullus K, Webb H, Bagga A. Management of steroid-resistant nephrotic syndrome in children and adolescents. Lancet Child Adolesc Health. 2018, 2:880-90. 10.1016\/s2352-4642(18)30283-9","journal-title":"Lancet Child Adolesc Health"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2022.03.019","article-title":"Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference","volume":"101","year":"2022","unstructured":"Genetics in chronic kidney disease. conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2022, 101:1126-41. 10.1016\/j.kint.2022.03.019","journal-title":"Kidney Int"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2019.01669","article-title":"Disease recurrence-the sword of damocles in kidney transplantation for primary focal segmental glomerulosclerosis","volume":"10","author":"Kienzl-Wagner K","year":"2019","unstructured":"Kienzl-Wagner K, Waldegger S, Schneeberger S. Disease recurrence-the sword of damocles in kidney transplantation for primary focal segmental glomerulosclerosis. Front Immunol. 2019, 10:1669. 10.3389\/fimmu.2019.01669","journal-title":"Front Immunol"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2021.11.006","article-title":"Long-term transplantation outcomes in patients with primary hyperoxaluria type 1 included in the European Hyperoxaluria Consortium (OxalEurope) registry","volume":"7","author":"Metry EL","year":"2022","unstructured":"Metry EL, Garrelfs SF, Peters-Sengers H, et al.. Long-term transplantation outcomes in patients with primary hyperoxaluria type 1 included in the European Hyperoxaluria Consortium (OxalEurope) registry. Kidney Int Rep. 2022, 7:210-20. 10.1016\/j.ekir.2021.11.006","journal-title":"Kidney Int Rep"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(18)32782-x","article-title":"Autosomal dominant polycystic kidney disease","volume":"393","author":"Cornec-Le Gall E","year":"2019","unstructured":"Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019, 393:919-35. 10.1016\/s0140-6736(18)32782-x","journal-title":"Lancet"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2019.12.015","article-title":"A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome","volume":"97","author":"Gross O","year":"2020","unstructured":"Gross O, T\u00f6nshoff B, Weber LT, et al.. A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome. Kidney Int. 2020, 97:1275-86. 10.1016\/j.kint.2019.12.015","journal-title":"Kidney Int"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfab019","article-title":"Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players","volume":"37","author":"Domingo-Gallego A","year":"2022","unstructured":"Domingo-Gallego A, Pybus M, Bullich G, et al.. Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. Nephrol Dial Transplant. 2022, 37:687-96. 10.1093\/ndt\/gfab019","journal-title":"Nephrol Dial Transplant"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-023-05879-0","article-title":"Genetic testing in children with nephrolithiasis and nephrocalcinosis","volume":"38","author":"Gefen AM","year":"2023","unstructured":"Gefen AM, Sethna CB, Cil O, et al.. Genetic testing in children with nephrolithiasis and nephrocalcinosis. Pediatr Nephrol. 2023, 38:2615-22. 10.1007\/s00467-023-05879-0","journal-title":"Pediatr Nephrol"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01264","article-title":"Diagnostic yield of next-generation sequencing in patients with chronic kidney disease of unknown etiology","volume":"10","author":"de Haan A","year":"2019","unstructured":"de Haan A, Eijgelsheim M, Vogt L, Knoers NV, de Borst MH. Diagnostic yield of next-generation sequencing in patients with chronic kidney disease of unknown etiology. Front Genet. 2019, 10:1264. 10.3389\/fgene.2019.01264","journal-title":"Front Genet"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-020-03198-y","article-title":"Genetic testing in pediatric kidney disease","volume":"87","author":"Arora V","year":"2020","unstructured":"Arora V, Anand K, Chander Verma I. Genetic testing in pediatric kidney disease. Indian J Pediatr. 2020, 87:706-15. 10.1007\/s12098-020-03198-y","journal-title":"Indian J Pediatr"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9030751","article-title":"Targeted exome sequencing provided comprehensive genetic diagnosis of congenital anomalies of the kidney and urinary tract","volume":"9","author":"Ahn YH","year":"2020","unstructured":"Ahn YH, Lee C, Kim NK, et al.. Targeted exome sequencing provided comprehensive genetic diagnosis of congenital anomalies of the kidney and urinary tract. J Clin Med. 2020, 9:10.3390\/jcm9030751","journal-title":"J Clin Med"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.14661119","article-title":"Clinical integration of genome diagnostics for congenital anomalies of the kidney and urinary tract","volume":"16","author":"Westland R","year":"2020","unstructured":"Westland R, Renkema KY, Knoers NV. Clinical integration of genome diagnostics for congenital anomalies of the kidney and urinary tract. Clin J Am Soc Nephrol. 2020, 16:128-37. 10.2215\/CJN.14661119","journal-title":"Clin J Am Soc Nephrol"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1656-1","article-title":"Diagnosis and management of childhood polycystic kidney disease","volume":"26","author":"Sweeney WE Jr","year":"2011","unstructured":"Sweeney WE Jr, Avner ED. Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol. 2011, 26:675-92. 10.1007\/s00467-010-1656-1","journal-title":"Pediatr Nephrol"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1136\/jme.2004.010272","article-title":"Ethical issues in predictive genetic testing: a public health perspective","volume":"32","author":"Fulda KG","year":"2006","unstructured":"Fulda KG, Lykens K. Ethical issues in predictive genetic testing: a public health perspective. J Med Ethics. 2006, 32:143-7. 10.1136\/jme.2004.010272","journal-title":"J Med Ethics"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-020-0294-5","article-title":"The ethics of genetic testing for kidney diseases","volume":"16","author":"Sabatello M","year":"2020","unstructured":"Sabatello M, Milo Rasouly H. The ethics of genetic testing for kidney diseases. Nat Rev Nephrol. 2020, 16:619-20. 10.1038\/s41581-020-0294-5","journal-title":"Nat Rev Nephrol"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2023.1201712","article-title":"What patients want to know about genetic testing for kidney disease","volume":"10","author":"Savige J","year":"2023","unstructured":"Savige J, Weinstock BA. What patients want to know about genetic testing for kidney disease. Front Med (Lausanne). 2023, 10:1201712. 10.3389\/fmed.2023.1201712","journal-title":"Front Med (Lausanne)"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-3680","article-title":"Ethical and policy issues in genetic testing and screening of children","volume":"131","year":"2013","unstructured":"Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013, 131.620-2. 10.1542\/peds.2012-3680","journal-title":"Pediatrics"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/176463-the-role-of-genetic-testing-in-pediatric-renal-diseases-diagnostic-prognostic-and-social-implications","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:58:38Z","timestamp":1707508718000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/176463-the-role-of-genetic-testing-in-pediatric-renal-diseases-diagnostic-prognostic-and-social-implications"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,31]]},"references-count":36,"URL":"https:\/\/doi.org\/10.7759\/cureus.44490","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8,31]]}}}