{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T22:31:47Z","timestamp":1774391507548,"version":"3.50.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2020,2,13]],"date-time":"2020-02-13T00:00:00Z","timestamp":1581552000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,2,13]],"date-time":"2020-02-13T00:00:00Z","timestamp":1581552000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1007\/s12098-020-03198-y","type":"journal-article","created":{"date-parts":[[2020,2,13]],"date-time":"2020-02-13T07:03:45Z","timestamp":1581577425000},"page":"706-715","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Genetic Testing in Pediatric Kidney Disease"],"prefix":"10.1007","volume":"87","author":[{"given":"Veronica","family":"Arora","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanav","family":"Anand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ishwar","family":"Chander Verma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,2,13]]},"reference":[{"key":"3198_CR1","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1097\/MNH.0000000000000486","volume":"28","author":"ME Armstrong","year":"2019","unstructured":"Armstrong ME, Thomas CP. Diagnosis of monogenic chronic kidney diseases. Curr Opin Nephrol Hypertens. 2019;28:183\u201394.","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"3198_CR2","doi-asserted-by":"publisher","unstructured":"Connaughton DM, Hildebrandt F. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant. 2019. https:\/\/doi.org\/10.1093\/ndt\/gfz028.","DOI":"10.1093\/ndt\/gfz028"},{"key":"3198_CR3","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1007\/s00467-017-3698-0","volume":"33","author":"A Gulati","year":"2018","unstructured":"Gulati A, Somlo S. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatr Nephrol. 2018;33:745\u201361.","journal-title":"Pediatr Nephrol"},{"key":"3198_CR4","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1016\/S2352-4642(18)30283-9","volume":"2","author":"K Tullus","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\u201390.","journal-title":"Lancet Child Adolesc Health"},{"key":"3198_CR5","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/ASN.2014050489","volume":"26","author":"CE Sadowski","year":"2015","unstructured":"Sadowski CE, Lovric S, Ashraf S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279\u201389.","journal-title":"J Am Soc Nephrol"},{"key":"3198_CR6","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s11010-016-2889-5","volume":"426","author":"AS Ramanathan","year":"2017","unstructured":"Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P. WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. Mol Cell Biochem. 2017;426:177\u201381.","journal-title":"Mol Cell Biochem"},{"key":"3198_CR7","doi-asserted-by":"publisher","first-page":"417","DOI":"10.4103\/1319-2442.178590","volume":"27","author":"OP Mishra","year":"2016","unstructured":"Mishra OP, Singh AK, Abhinay A, Narayan G, Prasad R, Batra VV. WT1 mutations in steroid-resistant idiopathic nephrotic syndrome. Saudi J Kidney Dis Transpl. 2016;27:417\u20138.","journal-title":"Saudi J Kidney Dis Transpl"},{"key":"3198_CR8","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1111\/nep.12241","volume":"19","author":"A Jaffer","year":"2014","unstructured":"Jaffer A, Unnisa W, Raju DS, Jahan P. NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians. Nephrology (Carlton). 2014;19:398\u2013403.","journal-title":"Nephrology (Carlton)"},{"key":"3198_CR9","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.1093\/ndt\/gfv355","volume":"31","author":"S Lovric","year":"2016","unstructured":"Lovric S, Ashraf S, Tan W, Hildebrandt F. Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant. 2016;31:1802\u201313.","journal-title":"Nephrol Dial Transplant"},{"key":"3198_CR10","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.earlhumdev.2018.08.017","volume":"126","author":"A Yulia","year":"2018","unstructured":"Yulia A, Winyard P. Management of antenatally detected kidney malformations. Early Hum Dev. 2018;126:38\u201346.","journal-title":"Early Hum Dev"},{"key":"3198_CR11","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1681\/ASN.2017050561","volume":"29","author":"AT van der Ven","year":"2018","unstructured":"van der Ven AT, Vivante A, Hildebrandt F. Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2018;29:36\u201350.","journal-title":"J Am Soc Nephrol"},{"key":"3198_CR12","doi-asserted-by":"crossref","unstructured":"De Tomasi L, David P, Humbert C, et al. Mutations in GREB1L cause bilateral kidney agenesis in humans and mice. Am J Hum Genet. 2017;101:803\u201314.","DOI":"10.1016\/j.ajhg.2017.09.026"},{"key":"3198_CR13","doi-asserted-by":"publisher","first-page":"2348","DOI":"10.1681\/ASN.2017121265","volume":"29","author":"AT van der Ven","year":"2018","unstructured":"van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J. Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2018;29:2348\u201361.","journal-title":"J Am Soc Nephrol"},{"key":"3198_CR14","doi-asserted-by":"publisher","unstructured":"Germain DP, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019. https:\/\/doi.org\/10.1111\/cge.13546.","DOI":"10.1111\/cge.13546"},{"key":"3198_CR15","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1056\/NEJMra1010172","volume":"364","author":"F Hildebrandt","year":"2011","unstructured":"Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. NEJM. 2011;364:1533\u201343.","journal-title":"NEJM."},{"key":"3198_CR16","doi-asserted-by":"publisher","first-page":"177","DOI":"10.4103\/ijmr.IJMR_1822_15","volume":"147","author":"SP Chandrasekar","year":"2018","unstructured":"Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S. Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. Indian J Med Res. 2018;147:177\u201382.","journal-title":"Indian J Med Res"},{"key":"3198_CR17","unstructured":"Harris PC, Torres VE. Polycystic kidney disease, autosomal dominant. 2002 Jan 10 [updated 2018 Jul 19]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1246\/."},{"key":"3198_CR18","doi-asserted-by":"publisher","unstructured":"Arora V, Bijarnia-Mahay S, Tiwari V, et al. Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease. Eur J Med Genet. 2019;23. https:\/\/doi.org\/10.1016\/j.ejmg.2019.103734.","DOI":"10.1016\/j.ejmg.2019.103734"},{"key":"3198_CR19","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/s10038-019-0582-8","volume":"64","author":"S Pandita","year":"2019","unstructured":"Pandita S, Ramachandran V, Balakrishnan P, et al. Identification of Pkd1 and Pkd2 gene variants in a cohort of 125 Asian Indian patients of ADPKD. J Hum Genet. 2019;64:409\u201319.","journal-title":"J Hum Genet"},{"key":"3198_CR20","unstructured":"Sweeney WE, Avner ED. Polycystic kidney disease, autosomal recessive. 2001 Jul 19 [updated 2019 Feb 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae [internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available at: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1326\/."},{"key":"3198_CR21","unstructured":"Stokman M, Lilien M, Knoers N. Nephronophthisis. 2016 Jun 23. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132019. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK368475\/."},{"key":"3198_CR22","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1016\/j.kint.2017.12.018","volume":"93","author":"CE Kashtan","year":"2018","unstructured":"Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV \u03b1345: a position paper of the Alport syndrome classification working group. Kidney Int. 2018;93:1045\u201351.","journal-title":"Kidney Int"},{"key":"3198_CR23","doi-asserted-by":"publisher","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","volume":"14","author":"JP Jais","year":"2003","unstructured":"Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a \u201cEuropean Community Alport Syndrome Concerted Action\u201d study. J Am Soc Nephrol. 2003;14:2603\u201310.","journal-title":"J Am Soc Nephrol"},{"key":"3198_CR24","unstructured":"Lewis RA, Nussbaum RL, Brewer ED. Lowe syndrome. 2001 Jul 24 [updated 2019 Apr 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae [internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132019"},{"key":"3198_CR25","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.pcl.2018.08.010","volume":"66","author":"R Fulchiero","year":"2019","unstructured":"Fulchiero R, Seo-Mayer P. Bartter syndrome and Gitelman syndrome. Pediatr Clin N Am. 2019;66:121\u201334.","journal-title":"Pediatr Clin N Am"},{"key":"3198_CR26","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s00467-015-3076-8","volume":"31","author":"C Loirat","year":"2016","unstructured":"Loirat C, Fakhouri F, Ariceta G, et al. An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr Nephrol. 2016;31:15\u201339.","journal-title":"Pediatr Nephrol"},{"key":"3198_CR27","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1007\/s10157-017-1478-6","volume":"22","author":"RW Thergaonkar","year":"2018","unstructured":"Thergaonkar RW, Narang A, Gurjar BS, et al. Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations. Clin Exp Nephrol. 2018;22:653\u201360.","journal-title":"Clin Exp Nephrol"},{"key":"3198_CR28","unstructured":"Noris M, Bresin E, Mele C, Remuzzi G. Genetic atypical hemolytic-uremic syndrome. 2007 Nov 16 [updated 2016 Jun 9]. In: Adam MP, Ardinger HH, Pagon RA, et al, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available at: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1367\/."},{"key":"3198_CR29","doi-asserted-by":"crossref","unstructured":"Mattoo TK. Etiology and clinical manifestations of renal tubular acidosis in infants and children. In: Stapleton FB, Kim MS, editors. UpToDate [Internet]. UpToDate Inc; 2019 [cited 2019 Nov 10].","DOI":"10.1097\/01.COT.0000580028.59806.92"},{"key":"3198_CR30","doi-asserted-by":"publisher","first-page":"664","DOI":"10.2215\/CJN.07540715","volume":"11","author":"DA Braun","year":"2016","unstructured":"Braun DA, Lawson JA, Gee MJ, et al. Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis. Clin J Am Soc Nephrol. 2016;11:664\u201372.","journal-title":"Clin J Am Soc Nephrol"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-020-03198-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12098-020-03198-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-020-03198-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T00:54:45Z","timestamp":1613091285000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12098-020-03198-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,13]]},"references-count":30,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["3198"],"URL":"https:\/\/doi.org\/10.1007\/s12098-020-03198-y","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,13]]},"assertion":[{"value":"9 December 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 January 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 February 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}