{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:36:49Z","timestamp":1790501809516,"version":"4.1.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1007\/s00467-020-04747-5","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T16:08:00Z","timestamp":1602173280000},"page":"881-887","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Phenotypic variability in distal acidification defects associated with WDR72 mutations"],"prefix":"10.1007","volume":"36","author":[{"given":"Priyanka","family":"Khandelwal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Mahesh V","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay Prakash","family":"Mathur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumantra","family":"Raut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thenral S.","family":"Geetha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandhya","family":"Nair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj","family":"Hari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9566-3370","authenticated-orcid":false,"given":"Aditi","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arvind","family":"Bagga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"4747_CR1","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1053\/j.ackd.2018.05.003","volume":"25","author":"PG Valles","year":"2018","unstructured":"Valles PG, Batlle D (2018) Hypokalemic distal renal tubular acidosis. Adv Chronic Kidney Dis 25:303\u2013320","journal-title":"Adv Chronic Kidney Dis"},{"key":"4747_CR2","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1016\/j.kint.2016.12.017","volume":"91","author":"V Palazzo","year":"2017","unstructured":"Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S (2017) The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Kidney Int 91:1243\u20131255","journal-title":"Kidney Int"},{"key":"4747_CR3","doi-asserted-by":"publisher","first-page":"1263","DOI":"10.1152\/physrev.00045.2003","volume":"84","author":"CA Wagner","year":"2004","unstructured":"Wagner CA, Finberg KE, Breton S, Marshansky V, Brown D, Geibel JP (2004) Renal vacuolar H+-ATPase. Physiol Rev 84:1263\u20131314","journal-title":"Physiol Rev"},{"key":"4747_CR4","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1093\/ndt\/gfy409","volume":"34","author":"SC Lopez-Garcia","year":"2019","unstructured":"Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Pena H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yuksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, Konig J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wuhl E, Agbas A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pinarbasi AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D, European dRTA Consortium, Kleta R, Schaefer F, Bockenhauer D (2019) Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol Dial Transplant 34:981\u2013991","journal-title":"Nephrol Dial Transplant"},{"key":"4747_CR5","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1681\/ASN.2017080840","volume":"29","author":"S Enerback","year":"2018","unstructured":"Enerback S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA (2018) Acidosis and deafness in patients with recessive mutations in FOXI1. J Am Soc Nephrol 29:1041\u20131048","journal-title":"J Am Soc Nephrol"},{"key":"4747_CR6","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1016\/j.kint.2019.09.026","volume":"97","author":"T Jobst-Schwan","year":"2020","unstructured":"Jobst-Schwan T, Klambt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube GF, Fathy HM, Pohl M, Gellermann J, Milosevic D, Baum MA, Mane S, Lifton RP, Kane PM, Alper SL, Hildebrandt F (2020) Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int 97:567\u2013579","journal-title":"Kidney Int"},{"key":"4747_CR7","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1111\/cge.13418","volume":"94","author":"N Rungroj","year":"2018","unstructured":"Rungroj N, Nettuwakul C, Sawasdee N, Sangnual S, Deejai N, Misgar RA, Pasena A, Khositseth S, Kirdpon S, Sritippayawan S, Vasuvattakul S, Yenchitsomanus PT (2018) Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. Clin Genet 94:409\u2013418","journal-title":"Clin Genet"},{"key":"4747_CR8","doi-asserted-by":"publisher","first-page":"225","DOI":"10.4103\/0971-4065.202826","volume":"27","author":"RA Misgar","year":"2017","unstructured":"Misgar RA, Hassan Z, Wani AI, Bashir MI (2017) Amelogenesis imperfecta with distal renal tubular acidosis: a novel syndrome? Indian J Nephrol 27:225\u2013227","journal-title":"Indian J Nephrol"},{"key":"4747_CR9","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1177\/0022034518824571","volume":"98","author":"H Zhang","year":"2019","unstructured":"Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC (2019) WDR72 mutations associated with amelogenesis imperfecta and acidosis. J Dent Res 98:541\u2013548","journal-title":"J Dent Res"},{"key":"4747_CR10","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/S0022-3476(05)83487-0","volume":"122","author":"CF Strife","year":"1993","unstructured":"Strife CF, Clardy CW, Varade WS, Prada AL, Waldo FB (1993) Urine-to-blood carbon dioxide tension gradient and maximal depression of urinary pH to distinguish rate-dependent from classic distal renal tubular acidosis in children. J Pediatr 122:60\u201365","journal-title":"J Pediatr"},{"key":"4747_CR11","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1016\/0002-9343(82)90540-X","volume":"72","author":"D Batlle","year":"1982","unstructured":"Batlle D, Grupp M, Gaviria M, Kurtzman NA (1982) Distal renal tubular acidosis with intact capacity to lower urinary pH. Am J Med 72:751\u2013758","journal-title":"Am J Med"},{"key":"4747_CR12","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/S0022-3476(05)83129-4","volume":"124","author":"M Bonilla-Felix","year":"1994","unstructured":"Bonilla-Felix M, Villegas-Medina O, Vehaskari VM (1994) Renal acidification in children with idiopathic hypercalciuria. J Pediatr 124:529\u2013534","journal-title":"J Pediatr"},{"key":"4747_CR13","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1111\/j.1523-1755.2004.00801.x","volume":"66","author":"S Kim","year":"2004","unstructured":"Kim S, Lee JW, Park J, Na KY, Joo KW, Ahn C, Kim S, Lee JS, Kim GH, Kim J, Han JS (2004) The urine-blood PCO gradient as a diagnostic index of H(+)-ATPase defect distal renal tubular acidosis. Kidney Int 66:761\u2013767","journal-title":"Kidney Int"},{"key":"4747_CR14","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1007\/s002470050539","volume":"29","author":"PT Dick","year":"1999","unstructured":"Dick PT, Shuckett BM, Tang B, Daneman A, Kooh SW (1999) Observer reliability in grading nephrocalcinosis on ultrasound examinations in children. Pediatr Radiol 29:68\u201372","journal-title":"Pediatr Radiol"},{"key":"4747_CR15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) 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. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"4747_CR16","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1038\/371297a0","volume":"371","author":"EJ Neer","year":"1994","unstructured":"Neer EJ, Schmidt CJ, Nambudripad R, Smith TF (1994) The ancient regulatory-protein family of WD-repeat proteins. Nature 371:297\u2013300","journal-title":"Nature"},{"key":"4747_CR17","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1002\/mgg3.143","volume":"3","author":"SK Wang","year":"2015","unstructured":"Wang SK, Hu Y, Yang J, Smith CE, Nunez SM, Richardson AS, Pal S, Samann AC, Hu JC, Simmer JP (2015) Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation. Mol Genet Genomic Med 3:302\u2013319","journal-title":"Mol Genet Genomic Med"},{"key":"4747_CR18","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1126\/science.aar2131","volume":"360","author":"J Park","year":"2018","unstructured":"Park J, Shrestha R, Qiu C, Kondo A, Huang S, Werth M, Li M, Barasch J, Susztak K (2018) Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease. Science 360:758\u2013763","journal-title":"Science"},{"key":"4747_CR19","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/j.ajhg.2009.09.014","volume":"85","author":"W El-Sayed","year":"2009","unstructured":"El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ (2009) Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 85:699\u2013705","journal-title":"Am J Hum Genet"},{"key":"4747_CR20","doi-asserted-by":"publisher","first-page":"117","DOI":"10.2174\/138920312800493142","volume":"13","author":"PM Kane","year":"2012","unstructured":"Kane PM (2012) Targeting reversible disassembly as a mechanism of controlling V-ATPase activity. Curr Protein Pept Sci 13:117\u2013123","journal-title":"Curr Protein Pept Sci"},{"key":"4747_CR21","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1046\/j.1365-2443.2003.00655.x","volume":"8","author":"H Kawabe","year":"2003","unstructured":"Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y (2003) A novel rabconnectin-3-binding protein that directly binds a GDP\/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter. Genes Cells 8:537\u2013546","journal-title":"Genes Cells"},{"key":"4747_CR22","doi-asserted-by":"publisher","first-page":"14827","DOI":"10.1038\/srep14827","volume":"5","author":"M Merkulova","year":"2015","unstructured":"Merkulova M, Paunescu TG, Azroyan A, Marshansky V, Breton S, Brown D (2015) Mapping the H(+) (V)-ATPase interactome: identification of proteins involved in trafficking, folding, assembly and phosphorylation. Sci Rep 5:14827","journal-title":"Sci Rep"},{"key":"4747_CR23","doi-asserted-by":"publisher","first-page":"3027","DOI":"10.1097\/01.ASN.0000099375.74789.AB","volume":"14","author":"PA Stehberger","year":"2003","unstructured":"Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA (2003) Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. J Am Soc Nephrol 14:3027\u20133038","journal-title":"J Am Soc Nephrol"},{"key":"4747_CR24","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1002\/emmm.201201527","volume":"4","author":"JC Hennings","year":"2012","unstructured":"Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, Brown D, Jentsch TJ, Vargas-Poussou R, Eladari D, Hubner CA (2012) A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule. EMBO Mol Med 4:1057\u20131071","journal-title":"EMBO Mol Med"},{"key":"4747_CR25","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1007\/s00467-016-3573-4","volume":"32","author":"MTP Besouw","year":"2017","unstructured":"Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D (2017) Clinical and molecular aspects of distal renal tubular acidosis in children. Pediatr Nephrol 32:987\u2013996","journal-title":"Pediatr Nephrol"},{"key":"4747_CR26","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/S0022-3476(05)81194-1","volume":"121","author":"A Caldas","year":"1992","unstructured":"Caldas A, Broyer M, Dechaux M, Kleinknecht C (1992) Primary distal tubular acidosis in childhood: clinical study and long-term follow-up of 28 patients. J Pediatr 121:233\u2013241","journal-title":"J Pediatr"},{"key":"4747_CR27","doi-asserted-by":"publisher","first-page":"1507","DOI":"10.2215\/CJN.01320217","volume":"12","author":"NA Dhayat","year":"2017","unstructured":"Dhayat NA, Gradwell MW, Pathare G, Anderegg M, Schneider L, Luethi D, Mattmann C, Moe OW, Vogt B, Fuster DG (2017) Furosemide\/fludrocortisone test and clinical parameters to diagnose incomplete distal renal tubular acidosis in kidney stone formers. Clin J Am Soc Nephrol 12:1507\u20131517","journal-title":"Clin J Am Soc Nephrol"},{"key":"4747_CR28","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1038\/sj.ki.5002220","volume":"71","author":"SB Walsh","year":"2007","unstructured":"Walsh SB, Shirley DG, Wrong OM, Unwin RJ (2007) Urinary acidification assessed by simultaneous furosemide and fludrocortisone treatment: an alternative to ammonium chloride. Kidney Int 71:1310\u20131316","journal-title":"Kidney Int"},{"key":"4747_CR29","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1203\/00006450-199411000-00007","volume":"36","author":"AJ Bergman","year":"1994","unstructured":"Bergman AJ, Donckerwolcke RA, Duran M, Smeitink JA, Mousson B, Vianey-Saban C, Poll-The BT (1994) Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res 36:582\u2013588","journal-title":"Pediatr Res"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-020-04747-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-020-04747-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-020-04747-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T02:50:11Z","timestamp":1633575011000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-020-04747-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,7]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["4747"],"URL":"https:\/\/doi.org\/10.1007\/s00467-020-04747-5","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,7]]},"assertion":[{"value":"19 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 July 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 October 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}