{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T04:41:53Z","timestamp":1765082513786,"version":"3.46.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,6]]},"DOI":"10.7759\/cureus.98596","type":"journal-article","created":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T03:13:46Z","timestamp":1765077226000},"source":"Crossref","is-referenced-by-count":0,"title":["Distal Renal Tubular Acidosis With Sensorineural Deafness in a Saudi Female: A Case Report of an ATP6V1B1 Mutation in a Consanguineous Family"],"prefix":"10.7759","author":[{"given":"Abeer","family":"Alrasheed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nouf","family":"Alyabis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soud A","family":"Alrasheed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reem","family":"Alrasheed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.retram.2016.01.005","article-title":"Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: report of a novel mutation of ATP6V1B1 gene","volume":"64","author":"Boualla L","year":"2016","unstructured":"Boualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A. Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: report of a novel mutation of ATP6V1B1 gene. Curr Res Transl Med. 2016, 64:5-8. 10.1016\/j.retram.2016.01.005","journal-title":"Curr Res Transl Med"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3109\/0886022X.2013.824362","article-title":"ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families","volume":"35","author":"Uzak AS","year":"2013","unstructured":"Uzak AS, Cakar N, Comak E, Yalcinkaya F, Tekin M. ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families. Ren Fail. 2013, 35:1281-4. 10.3109\/0886022X.2013.824362","journal-title":"Ren Fail"},{"key":"ref3","doi-asserted-by":"publisher","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 M","year":"2018","unstructured":"Alonso-Varela M, Gil-Pe\u00f1a H, Coto E, G\u00f3mez J, Rodr\u00edguez J, Rodr\u00edguez-Rubio E, Santos F. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatr Nephrol. 2018, 33:1523-9. 10.1007\/s00467-018-3965-8","journal-title":"Pediatr Nephrol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.2147\/IMCRJ.S13667","article-title":"Importance of early audiologic assessment in distal renal tubular acidosis","volume":"4","author":"Swayamprakasam AP","year":"2011","unstructured":"Swayamprakasam AP, Stover E, Norgett E, Blake-Palmer KG, Cunningham MJ, Karet FE. Importance of early audiologic assessment in distal renal tubular acidosis. Int Med Case Rep J. 2011, 4:7-11. 10.2147\/IMCRJ.S13667","journal-title":"Int Med Case Rep J"},{"key":"ref5","article-title":"Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report","volume":"4","author":"Sharifian M","year":"2010","unstructured":"Sharifian M, Esfandiar N, Mazaheri S, et al.. Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report. Iran J Kidney Dis. 2010, 4:202-6.","journal-title":"Iran J Kidney Dis"},{"key":"ref6","doi-asserted-by":"publisher","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 FE","year":"1999","unstructured":"Karet FE, Finberg KE, Nelson RD, et al.. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999, 21:84-90. 10.1038\/5022","journal-title":"Nat Genet"},{"key":"ref7","article-title":"Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness","volume":"46","author":"Sethi SK","year":"2009","unstructured":"Sethi SK, Singh N, Gil H, Bagga A. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. Indian Pediatr. 2009, 46:425-7.","journal-title":"Indian Pediatr"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1017\/s0022215100131706","article-title":"Hearing impairment in association with distal renal tubular acidosis among Saudi children","volume":"109","author":"Zakzouk SM","year":"1995","unstructured":"Zakzouk SM, Sobki SH, Mansour F, al Anazy FH. Hearing impairment in association with distal renal tubular acidosis among Saudi children. J Laryngol Otol. 1995, 109:930-4. 10.1017\/s0022215100131706","journal-title":"J Laryngol Otol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.205","article-title":"Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families","volume":"4","author":"Escobar LI","year":"2016","unstructured":"Escobar LI, Simian C, Treard C, et al.. Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. Mol Genet Genomic Med. 2016, 4:303-11. 10.1002\/mgg3.205","journal-title":"Mol Genet Genomic Med"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1086\/302679","article-title":"Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34","volume":"65","author":"Karet FE","year":"1999","unstructured":"Karet FE, Finberg KE, Nayir A, et al.. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. Am J Hum Genet. 1999, 65:1656-65. 10.1086\/302679","journal-title":"Am J Hum Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1993.01880160106017","article-title":"Progressive sensorineural hearing loss in association with distal renal tubular acidosis","volume":"119","author":"Brown MT","year":"1993","unstructured":"Brown MT, Cunningham MJ, Ingelfinger JR, Becker AN. Progressive sensorineural hearing loss in association with distal renal tubular acidosis. Arch Otolaryngol Head Neck Surg. 1993, 119:458-60. 10.1001\/archotol.1993.01880160106017","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159\/000529486","article-title":"Hearing loss related to gene mutations in distal renal tubular acidosis","volume":"28","author":"Ay E","year":"2023","unstructured":"Ay E, Gurses E, Aslan F, et al.. Hearing loss related to gene mutations in distal renal tubular acidosis. Audiol Neurootol. 2023, 28:350-9. 10.1159\/000529486","journal-title":"Audiol Neurootol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s40620-021-01032-y","article-title":"Distal renal tubular acidosis: a systematic approach from diagnosis to treatment","volume":"34","author":"Giglio S","year":"2021","unstructured":"Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F. Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. J Nephrol. 2021, 34:2073-83. 10.1007\/s40620-021-01032-y","journal-title":"J Nephrol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/s0272-6386(96)90526-0","article-title":"Renal tubular acidosis and deafness: report of a large family","volume":"27","author":"Bajaj G","year":"1996","unstructured":"Bajaj G, Quan A. Renal tubular acidosis and deafness: report of a large family. Am J Kidney Dis. 1996, 27:880-2. 10.1016\/s0272-6386(96)90526-0","journal-title":"Am J Kidney Dis"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/ndtplus\/sfq123","article-title":"An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria","volume":"3","author":"Copelovitch L","year":"2010","unstructured":"Copelovitch L, Kaplan BS. An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria. NDT Plus. 2010, 3:439-42. 10.1093\/ndtplus\/sfq123","journal-title":"NDT Plus"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/410182-distal-renal-tubular-acidosis-with-sensorineural-deafness-in-a-saudi-female-a-case-report-of-an-atp6v1b1-mutation-in-a-consanguineous-family","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T03:13:57Z","timestamp":1765077237000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/410182-distal-renal-tubular-acidosis-with-sensorineural-deafness-in-a-saudi-female-a-case-report-of-an-atp6v1b1-mutation-in-a-consanguineous-family"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,6]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.98596","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12,6]]}}}