{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:24:38Z","timestamp":1786994678862,"version":"build-2736575974"},"reference-count":50,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"vor","delay-in-days":83,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Nefrolog\u00eda (English Edition)"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.nefroe.2021.09.004","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T00:37:52Z","timestamp":1633653472000},"page":"383-390","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives"],"prefix":"10.1016","volume":"41","author":[{"given":"Sara","family":"G\u00f3mez-Conde","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Garc\u00eda-Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireia","family":"Aguirre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Herrero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leire","family":"Gondra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leire","family":"Madariaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nefroe.2021.09.004_bib0005","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/ndt\/gfy409","article-title":"Treatment and long-term outcome in primary distal renal tubular acidosis","volume":"34","author":"Lopez-Garcia","year":"2019","journal-title":"Nephrol Dial Transplant."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0010","doi-asserted-by":"crossref","first-page":"3691","DOI":"10.1093\/ndt\/gfs442","article-title":"Genetic causes and mechanisms of distal renal tubular acidosis","volume":"27","author":"Batlle","year":"2012","journal-title":"Nephrol Dial Transplant."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0015","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1007\/s00467-014-2958-5","article-title":"Drug-induced acid\u2013base disorders","volume":"30","author":"Kitterer","year":"2015","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0020","doi-asserted-by":"crossref","first-page":"17","DOI":"10.5049\/EBP.2017.15.1.17","article-title":"Renal tubular acidosis in patients with primary Sj\u00f6gren\u2019s syndrome","volume":"15","author":"Jung","year":"2017","journal-title":"Electrolyte Blood Press."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0025","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1007\/s00296-014-2993-3","article-title":"Everything you need to know about distal renal tubular acidosis in autoimmune disease","volume":"34","author":"Both","year":"2014","journal-title":"Rheumatol Int."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0030","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s12519-019-00260-4","article-title":"Distal renal tubular acidosis: genetic causes and management","volume":"15","author":"Soares","year":"2019","journal-title":"World J Pediatr."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0035","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1159\/000478781","article-title":"New findings on the pathogenesis of distal renal tubular acidosis","volume":"3","author":"Trepiccione","year":"2017","journal-title":"Kidney Dis."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0040","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/5022","article-title":"Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness","volume":"21","author":"Karet","year":"1999","journal-title":"Nat Genet."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0045","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1038\/pr.2015.243","article-title":"Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing","volume":"79","author":"G\u00f3mez","year":"2016","journal-title":"Pediatr Res."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0050","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1152\/physrev.00045.2003","article-title":"Renal vacuolar H+-ATPase","volume":"84","author":"Wagner","year":"2004","journal-title":"Physiol Rev."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0055","doi-asserted-by":"crossref","first-page":"181","DOI":"10.2147\/PHMT.S174459","article-title":"Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead","volume":"9","author":"Watanabe","year":"2018","journal-title":"Pediatric Health Med Ther."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0060","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 Am Soc Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0065","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1136\/jmg.39.11.796","article-title":"Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss","volume":"39","author":"Stover","year":"2002","journal-title":"J Med Genet."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0070","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1038\/ki.2008.96","article-title":"The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction","volume":"73","author":"Fuster","year":"2008","journal-title":"Kidney Int."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0075","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/s41419-020-2354-y","article-title":"Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene","volume":"11","author":"Chen","year":"2020","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0080","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s40620-017-0447-1","article-title":"Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis","volume":"31","author":"Mohebbi","year":"2018","journal-title":"J Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0085","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.nefroe.2021.09.004_bib0090","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1016\/j.bbamem.2016.03.030","article-title":"Band 3, the human red cell chloride\/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context","volume":"1858","author":"Reithmeier","year":"2016","journal-title":"Biochim Biophys Acta."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0095","doi-asserted-by":"crossref","first-page":"F213","DOI":"10.1152\/ajprenal.1987.253.2.F213","article-title":"Immunochemical characterization of a band 3-like anion exchanger in collecting duct of human kidney","volume":"253","author":"Wagner","year":"1987","journal-title":"Am J Physiol-Ren Fluid Electrolyte Physiol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0100","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1139\/o98-072","article-title":"The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene","volume":"76","author":"Bruce","year":"1998","journal-title":"Biochem Cell Biol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0105","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1053\/j.ackd.2018.05.005","article-title":"Renal tubular acidosis: H+\/base and ammonia transport abnormalities and clinical syndromes","volume":"25","author":"Kurtz","year":"2018","journal-title":"Adv Chronic Kidney Dis."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0110","series-title":"Pediatric nephrology","first-page":"1273","article-title":"Renal tubular acidosis in children","author":"Quigley","year":"2015"},{"key":"10.1016\/j.nefroe.2021.09.004_bib0115","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1111\/j.1600-0854.2005.00366.x","article-title":"Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger induce distinct trafficking defects in MDCK cells","volume":"7","author":"Cordat","year":"2006","journal-title":"Traffic."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0120","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1242\/jcs.00974","article-title":"Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarized kidney cells: Mis-targeting explains dominant renal tubular acidosis (dRTA)","volume":"117","author":"Toye","year":"2004","journal-title":"J Cell Sci."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0125","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1681\/ASN.2016020169","article-title":"Intercalated cell depletion and vacuolar H+-ATPase mistargeting in an Ae1 R607H knockin model","volume":"28","author":"Mumtaz","year":"2017","journal-title":"J Am Soc Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0130","doi-asserted-by":"crossref","first-page":"6337","DOI":"10.1073\/pnas.95.11.6337","article-title":"Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis","volume":"95","author":"Karet","year":"1998","journal-title":"Proc Natl Acad Sci U S A."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0135","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s004670000454","article-title":"Atypical distal renal tubular acidosis confirmed by mutation analysis","volume":"15","author":"Weber","year":"2000","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0140","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1016\/j.kint.2016.12.017","article-title":"The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis","volume":"91","author":"Palazzo","year":"2017","journal-title":"Kidney Int."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0145","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1681\/ASN.2017080840","article-title":"Acidosis and deafness in patients with recessive mutations in FOXI1","volume":"29","author":"Enerb\u00e4ck","year":"2018","journal-title":"J Am Soc Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0150","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0004471","article-title":"The forkhead transcription factor Foxi1 is a master regulator of vacuolar H+-ATPase proton pump subunits in the inner ear, kidney and epididymis","volume":"4","author":"Vidarsson","year":"2009","journal-title":"PLoS One."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0155","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/cge.13418","article-title":"Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations","volume":"94","author":"Rungroj","year":"2018","journal-title":"Clin Genet."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0160","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.ajhg.2009.09.014","article-title":"Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta","volume":"85","author":"El-Sayed","year":"2009","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0165","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.kint.2019.09.026","article-title":"Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis","volume":"97","author":"Jobst-Schwan","year":"2020","journal-title":"Kidney Int."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0170","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1007\/s00467-015-3083-9","article-title":"Clinical and laboratory approaches in the diagnosis of renal tubular acidosis","volume":"30","author":"Santos","year":"2015","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0175","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s40620-016-0370-x","article-title":"Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid\u2013base balance","volume":"30","author":"Seeger","year":"2017","journal-title":"J Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0180","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1007\/s00467-018-3965-8","article-title":"Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations","volume":"33","author":"Alonso-Varela","year":"2018","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0185","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1146\/annurev.med.52.1.471","article-title":"Hereditary distal renal tubular acidosis: new understandings","volume":"52","author":"Batlle","year":"2001","journal-title":"Annu Rev Med."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0190","doi-asserted-by":"crossref","first-page":"23","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.nefroe.2021.09.004_bib0195","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/BF00858629","article-title":"Reversible low-molecular-weight proteinuria in patients with distal renal tubular acidosis","volume":"4","author":"Igarashi","year":"1990","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0200","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1007\/s00467-004-1693-8","article-title":"Proximal renal tubular dysfunction in primary distal renal tubular acidosis","volume":"20","author":"Watanabe","year":"2005","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0205","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1007\/s00467-017-3829-7","article-title":"Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review","volume":"33","author":"Clericetti","year":"2018","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0210","series-title":"GeneReviews\u00ae","article-title":"Hereditary distal renal tubular acidosis","author":"Alexander","year":"2019"},{"key":"10.1016\/j.nefroe.2021.09.004_bib0215","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/j.1399-0004.2012.01891.x","article-title":"Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss","volume":"83","author":"Mohebbi","year":"2013","journal-title":"Clin Genet."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0220","first-page":"434","article-title":"Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear","volume":"6","author":"Lorente-C\u00e1novas","year":"2013","journal-title":"Dis Model Mech."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0225","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1046\/j.1523-1755.2002.00656.x","article-title":"Bone histology and bone mineral density after correction of acidosis in distal renal tubular acidosis","volume":"62","author":"Domrongkitchaiporn","year":"2002","journal-title":"Kidney Int."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0230","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1111\/j.1600-0609.2011.01739.x","article-title":"dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state","volume":"88","author":"Fawaz","year":"2012","journal-title":"Eur J Haematol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0235","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1007\/s00467-004-1732-5","article-title":"Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III","volume":"20","author":"Watanabe","year":"2005","journal-title":"Pediatr Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0240","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1136\/jmg.39.11.796","article-title":"Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss","volume":"39","author":"Stover","year":"2002","journal-title":"J Med Genet."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0245","doi-asserted-by":"crossref","first-page":"1544","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","year":"2016","journal-title":"J Am Soc Nephrol."},{"key":"10.1016\/j.nefroe.2021.09.004_bib0250","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1542\/peds.112.6.1361","article-title":"A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis","volume":"112","author":"Cheidde","year":"2003","journal-title":"Pediatrics."}],"container-title":["Nefrolog\u00eda (English Edition)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2013251421000900?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2013251421000900?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T19:46:02Z","timestamp":1761853562000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2013251421000900"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":50,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["S2013251421000900"],"URL":"https:\/\/doi.org\/10.1016\/j.nefroe.2021.09.004","relation":{},"ISSN":["2013-2514"],"issn-type":[{"value":"2013-2514","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives","name":"articletitle","label":"Article Title"},{"value":"Nefrolog\u00eda (English Edition)","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nefroe.2021.09.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.nefro.2020.08.015","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Sociedad Espa\u00f1ola de Nefrolog\u00eda. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}