{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:36:24Z","timestamp":1787312184041,"version":"build-2736575974"},"reference-count":22,"publisher":"Necmettin Erbakan University Press","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Primary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes ATP6V0A4, ATP6V1B1, SLC4A1, FOXI1, or WDR72), which causes tubular transport defects characterized by an inability to appropriately acidify urine with resultant persistent hyperchloremic metabolic acidosis. Retrospective analysis of 28 children (14 males) under the age of 14 years with dRTA seen from 2010 to 2019 was reviewed, and detailed clinic records were analyzed. The clinical features, investigations, and response to treatment were recorded. The median age of the children at presentation was 30 months (range: 9.25\u201372 months), and the median age at onset of symptoms was 2 months. All the children had growth failure, polyuria, and polydipsia at presentation. Mean serum potassium, pH, bicarbonate, and anion gap at presentation was 2.3\u2009\u00b1\u20090.5 mmol\/L, 7.22\u2009\u00b1\u20090.09, 13.28\u2009\u00b1\u20094.37 mmol\/L, and 9.3\u2009\u00b1\u20092.18, respectively. Mean serum potassium, pH, bicarbonate at follow-up was 3.88\u2009\u00b1\u20090.6 mmol\/L, 7.35\u2009\u00b1\u20090.06, and 20.13\u2009\u00b1\u20094.17 mmol\/L, respectively. The median z-score for the weight for age and height for age at initial presentation was \u22124.77 (\u20137.68 to \u20133.74) and \u20134.21 (\u20135.42 to \u20132.37) and at follow-up was \u20133.35 (\u20135.29 to \u20131.55) and \u20133.84 (\u20135.36 to \u20131.63), respectively. Twenty-two (78.6%) children had medullary nephrocalcinosis. Four children had sensorineural hearing loss. Seven children had genetic testing done, and six had pathogenic or likely pathogenic variants in ATP6V1B1 and ATP6V0A4 gene. Children with dRTA have a guarded prognosis and ATP6V1B1 and ATP6V0A4 mutations are the most common implicated genetic defect in Indian children with distal RTA.<\/jats:p>","DOI":"10.1055\/s-0041-1724114","type":"journal-article","created":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T18:51:36Z","timestamp":1614797496000},"page":"221-226","source":"Crossref","is-referenced-by-count":5,"title":["Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute"],"prefix":"10.53391","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4253-3385","authenticated-orcid":false,"given":"Lesa","family":"Dawman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0918-3056","authenticated-orcid":false,"given":"Karalanglin","family":"Tiewsoh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prabal","family":"Barman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kambagiri","family":"Pratyusha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lalawmpuia","family":"Chaakchhuak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Indar Kumar","family":"Sharawat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2021,3,3]]},"reference":[{"issue":"06","key":"ref1","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":"M TP Besouw","year":"2017","journal-title":"Pediatr Nephrol"},{"issue":"08","key":"ref2","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","author":"J Rodr\u00edguez Soriano","year":"2002","journal-title":"J Am Soc Nephrol"},{"issue":"10","key":"ref3","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":"D Batlle","year":"2012","journal-title":"Nephrol Dial Transplant"},{"issue":"02","key":"ref4","first-page":"261","article-title":"Clinical profile of distal renal tubular acidosis","volume":"22","author":"R Jha","year":"2011","journal-title":"Saudi J Kidney Dis Transpl"},{"issue":"03","key":"ref5","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":"S Enerb\u00e4ck","year":"2018","journal-title":"J Am Soc Nephrol"},{"issue":"03","key":"ref6","doi-asserted-by":"crossref","first-page":"303","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":"L I Escobar","year":"2016","journal-title":"Mol Genet Genomic Med"},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1159\/000488698","article-title":"Genotype-phenotype analysis in pediatric patients with distal renal tubular acidosis","volume":"43","author":"E Park","year":"2018","journal-title":"Kidney Blood Press Res"},{"issue":"02","key":"ref8","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1089\/gtmb.2019.0195","article-title":"Molecular diagnosis and identification of genetic variants underlying distal renal tubular acidosis in pakistani patients using whole exome sequencing","volume":"24","author":"N Khan","year":"2020","journal-title":"Genet Test Mol Biomarkers"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1186\/1471-2350-14-119","article-title":"Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes","volume":"14","author":"D Elhayek","year":"2013","journal-title":"BMC Med Genet"},{"issue":"05","key":"ref10","first-page":"425","article-title":"Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness","volume":"46","author":"S K Sethi","year":"2009","journal-title":"Indian Pediatr"},{"issue":"08","key":"ref11","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nrneph.2014.95","article-title":"Next-generation sequencing for research and diagnostics in kidney disease","volume":"10","author":"K Y Renkema","year":"2014","journal-title":"Nat Rev Nephrol"},{"issue":"05","key":"ref12","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":"R Vargas-Poussou","year":"2006","journal-title":"J Am Soc Nephrol"},{"issue":"05","key":"ref13","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/S0022-3476(82)80288-6","article-title":"Natural history of primary distal renal tubular acidosis treated since infancy","volume":"101","author":"J Rodriguez-Soriano","year":"1982","journal-title":"J Pediatr"},{"issue":"03","key":"ref14","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1038\/ki.1996.400","article-title":"Calciuric response to an acute acid load in healthy subjects and hypercalciuric calcium stone formers","volume":"50","author":"P Houillier","year":"1996","journal-title":"Kidney Int"},{"issue":"12","key":"ref15","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1007\/s00467-004-1609-7","article-title":"Acidosis increases magnesiuria in children with distal renal tubular acidosis","volume":"19","author":"G Ariceta","year":"2004","journal-title":"Pediatr Nephrol"},{"issue":"08","key":"ref16","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.3109\/0886022X.2014.930332","article-title":"Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis","volume":"36","author":"Y Gao","year":"2014","journal-title":"Ren Fail"},{"issue":"09","key":"ref17","doi-asserted-by":"crossref","first-page":"1281","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":"A Subasioglu Uzak","year":"2013","journal-title":"Ren Fail"},{"issue":"03","key":"ref18","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":"J G\u00f3mez","year":"2016","journal-title":"Pediatr Res"},{"issue":"05","key":"ref19","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":"V Palazzo","year":"2017","journal-title":"Kidney Int"},{"issue":"01","key":"ref20","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/79208","article-title":"Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing","volume":"26","author":"A N Smith","year":"2000","journal-title":"Nat 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