{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T14:12:57Z","timestamp":1774275177189,"version":"3.50.1"},"reference-count":22,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Inherited distal renal tubular acidosis (dRTA) is a rare but clinically significant disorder of renal acid\u2013base regulation that frequently presents in infancy or early childhood. Among the genetic causes of autosomal recessive dRTA, mutations in the ATP6V1B1 gene are particularly important due to their association with early-onset disease and sensorineural hearing loss. Failure to recognize and treat this condition promptly can result in growth retardation, bone disease, nephrocalcinosis, chronic kidney disease, and permanent auditory impairment. This article presents a comprehensive review of the pediatric literature concerning dRTA. We focus on the pathophysiology, pediatric presentation, renal and audiological outcomes, genetic architecture, and management implications of ATP6V1B1-associated dRTA in children. We highlight evolving genotype\u2013phenotype correlations, the emerging recognition of autosomal recessive disease mechanisms, and the importance of early diagnosis and long-term multidisciplinary follow-up.<\/jats:p>","DOI":"10.3390\/children13030436","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T13:07:06Z","timestamp":1774271226000},"page":"436","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children: Insights from a Literature Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Andreea Liana","family":"Bot (Rachisan)","sequence":"first","affiliation":[{"name":"Faculty of Nursing and Health Sciences, Department 2, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400023 Cluj-Napoca, Romania"},{"name":"Department of Pediatric Nephrology, Cluj-Napoca Children\u2019s Hospital Gheorghieni, 400023 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marius Cosmin","family":"Colceriu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics II, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400023 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Jecan-Toader","sequence":"additional","affiliation":[{"name":"Department of Pediatrics II, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400023 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogdan","family":"Bulata","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Cluj-Napoca Children\u2019s Hospital Gheorghieni, 400023 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Delean","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Cluj-Napoca Children\u2019s Hospital Gheorghieni, 400023 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihaela","family":"Sparchez","sequence":"additional","affiliation":[{"name":"No 8 Mother and Child, Department of Pediatrics II, University of Medicine and Pharmacy \u201cIuliu Hatieganu\u201d, 400023 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1097\/01.ASN.0000023430.92674.E5","article-title":"Renal tubular acidosis: The clinical entity","volume":"13","year":"2002","journal-title":"J. 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