{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:01:32Z","timestamp":1790737292376,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":1461,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["kidney-international.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.kint.2017.10.016","type":"journal-article","created":{"date-parts":[[2018,2,16]],"date-time":"2018-02-16T00:51:58Z","timestamp":1518742318000},"page":"961-967","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":97,"title":["Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies"],"prefix":"10.1016","volume":"93","author":[{"given":"Emma J.","family":"Ashton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Legrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Benoit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Roncelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabelle","family":"Venisse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Christina","family":"Zennaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Iancu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"van\u2019t Hoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen B.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Godefroid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies","family":"Rotthier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurgen","family":"Del Favero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Devuyst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy A.","family":"Jenkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kleta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Dahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"Bockenhauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.kint.2017.10.016_bib1","series-title":"From Fish to Philosopher; the Story of Our Internal Environment","author":"Smith","year":"1959"},{"key":"10.1016\/j.kint.2017.10.016_bib2","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1007\/s00467-011-1865-2","article-title":"Genetic testing in renal disease","volume":"27","author":"Bockenhauer","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib3","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/gim.2014.122","article-title":"Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome\/genome sequencing","volume":"17","author":"Xue","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.kint.2017.10.016_bib4","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1016\/S0140-6736(14)60659-0","article-title":"Rare inherited kidney diseases:\u00a0challenges, opportunities, and perspectives","volume":"383","author":"Devuyst","year":"2014","journal-title":"Lancet"},{"key":"10.1016\/j.kint.2017.10.016_bib5","doi-asserted-by":"crossref","first-page":"592","DOI":"10.2215\/CJN.06260614","article-title":"Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort","volume":"10","author":"Trautmann","year":"2015","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib6","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A\u00a0single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome","volume":"26","author":"Sadowski","year":"2015","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib7","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1136\/jmedgenet-2015-103304","article-title":"Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies","volume":"53","author":"Schueler","year":"2016","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.kint.2017.10.016_bib8","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.2010.082552","article-title":"Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy","volume":"48","author":"Otto","year":"2011","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.kint.2017.10.016_bib9","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study","volume":"17","author":"Weber","year":"2006","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib10","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s00467-013-2684-4","article-title":"Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans","volume":"29","author":"Vivante","year":"2014","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib11","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1681\/ASN.2010090907","article-title":"Spectrum of mutations in Gitelman syndrome","volume":"22","author":"Vargas-Poussou","year":"2011","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib12","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1681\/ASN.2005121305","article-title":"Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene","volume":"17","author":"Vargas-Poussou","year":"2006","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib13","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/nrneph.2015.89","article-title":"Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus","volume":"11","author":"Bockenhauer","year":"2015","journal-title":"Nat Rev Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib14","doi-asserted-by":"crossref","DOI":"10.1159\/000094001","article-title":"Bartter syndromes and other salt-losing tubulopathies","volume":"104","author":"Kleta","year":"2006","journal-title":"Nephron Physiology"},{"key":"10.1016\/j.kint.2017.10.016_bib15","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1007\/s00467-016-3416-3","article-title":"Genetic causes of hypomagnesemia, a clinical overview","volume":"32","author":"Viering","year":"2017","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib16","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.kint.2016.09.046","article-title":"Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference","volume":"91","author":"Blanchard","year":"2017","journal-title":"Kidney Int"},{"key":"10.1016\/j.kint.2017.10.016_bib17","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1203\/00006450-200012000-00009","article-title":"Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype","volume":"48","author":"Jeck","year":"2000","journal-title":"Pediatr Res"},{"key":"10.1016\/j.kint.2017.10.016_bib18","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1681\/ASN.2008060633","article-title":"HNF1B mutations associate with hypomagnesemia and renal magnesium wasting","volume":"20","author":"Adalat","year":"2009","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib19","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/ki.2011.225","article-title":"Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood","volume":"80","author":"Faguer","year":"2011","journal-title":"Kidney Int"},{"key":"10.1016\/j.kint.2017.10.016_bib20","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1086\/499409","article-title":"SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis","volume":"78","author":"Bergwitz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.kint.2017.10.016_bib21","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1007\/s00467-016-3573-4","article-title":"Clinical and molecular aspects of distal renal tubular acidosis in children","volume":"32","author":"Besouw","year":"2017","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib22","doi-asserted-by":"crossref","first-page":"195728","DOI":"10.1186\/1687-9856-2009-195728","article-title":"Transient pseudohypoaldosteronism due to urinary tract infection in infancy: a report of 4 cases","volume":"2009","author":"Nandagopal","year":"2009","journal-title":"Int J Pediatr Endocrinol"},{"key":"10.1016\/j.kint.2017.10.016_bib23","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/humu.20371","article-title":"Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism","volume":"28","author":"Pujo","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.kint.2017.10.016_bib24","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1681\/ASN.2005111188","article-title":"Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults","volume":"17","author":"Geller","year":"2006","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib25","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1161\/CIRCGENETICS.113.000115","article-title":"Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations","volume":"6","author":"Escoubet","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.kint.2017.10.016_bib26","doi-asserted-by":"crossref","first-page":"2734","DOI":"10.1093\/ndt\/gfp160","article-title":"Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes","volume":"24","author":"Carboni","year":"2009","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.kint.2017.10.016_bib27","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s00467-006-0062-1","article-title":"Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families","volume":"21","author":"Garcia-Nieto","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib28","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/gm432","article-title":"Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing","volume":"5","author":"O'Rawe","year":"2013","journal-title":"Genome Med"},{"key":"10.1016\/j.kint.2017.10.016_bib29","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-3-22","article-title":"Gitelman syndrome","volume":"3","author":"Knoers","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.kint.2017.10.016_bib30","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/ki.2015.28","article-title":"Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management\u2014A KDIGO consensus report","volume":"88","author":"Eckardt","year":"2015","journal-title":"Kidney Int"},{"key":"10.1016\/j.kint.2017.10.016_bib31","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","article-title":"HNF1B-associated clinical phenotypes: the kidney and beyond","volume":"31","author":"Bockenhauer","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib32","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1681\/ASN.2016101057","article-title":"Clinical and genetic spectrum of Bartter syndrome type 3","volume":"28","author":"Seys","year":"2017","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2017.10.016_bib33","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1093\/qjmed\/hcn119","article-title":"Antenatal Bartter's syndrome: why is this not a lethal condition?","volume":"101","author":"Bockenhauer","year":"2008","journal-title":"QJM"},{"key":"10.1016\/j.kint.2017.10.016_bib34","doi-asserted-by":"crossref","DOI":"10.1159\/000320117","article-title":"Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases","volume":"116","author":"Bockenhauer","year":"2010","journal-title":"Nephron Physiol"},{"key":"10.1016\/j.kint.2017.10.016_bib35","unstructured":"Walsh PR, Tse Y, Ashton E, et\u00a0al. Clinical and diagnostic features of Bartter and Gitelman syndromes. Clin Kidney J. https:\/\/doi.org\/:10.1093\/ckj\/sfx118."},{"key":"10.1016\/j.kint.2017.10.016_bib36","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253817307962?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253817307962?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T02:29:45Z","timestamp":1648780185000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253817307962"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["S0085253817307962"],"URL":"https:\/\/doi.org\/10.1016\/j.kint.2017.10.016","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies","name":"articletitle","label":"Article Title"},{"value":"Kidney International","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2017.10.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}