{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:20:54Z","timestamp":1791822054898,"version":"4.3.4"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,26]],"date-time":"2023-01-26T00:00:00Z","timestamp":1674691200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82170847, 82105044"],"award-info":[{"award-number":["82170847, 82105044"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>The genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by <jats:italic>SLC4A1<\/jats:italic> mutations have not been systematically recorded before. Here, we summarized the <jats:italic>SLC4A1<\/jats:italic> mutations and clinical characteristics associated with dRTA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Database was searched, and the mutations and clinical manifestations of patients were summarized from the relevant articles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty-three eligible articles involving 169 patients were included and 41 mutations were identified totally. Fifteen mutations involving 100 patients were autosomal dominant inheritance, 21 mutations involving 61 patients were autosomal recessive inheritance. Nephrocalcinosis or kidney stones were found in 72.27%, impairment in renal function in 14.29%, developmental disorders in 61.16%, hematological abnormalities in 33.88%, and muscle weakness in 13.45% of patients. The age of onset was younger (<jats:italic>P<\/jats:italic>\u2009&amp;lt;\u20090.01), urine pH was higher (<jats:italic>P<\/jats:italic>\u2009&amp;lt;\u20090.01), and serum potassium was lower (<jats:italic>P<\/jats:italic>\u2009&amp;lt;\u20090.001) in recessive patients than patients with dominant <jats:italic>SLC4A1<\/jats:italic> mutations. Autosomal recessive inheritance was more often found in Asian patients (<jats:italic>P<\/jats:italic>\u2009&amp;lt;\u20090.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The children present with metabolic acidosis with high urinary pH, accompanying hypokalemia, hyperchloremia, nephrocalcinosis, growth retardation and hematological abnormalities should be suspected as dRTA and suggested a genetic testing. The patients with recessive dRTA are generally more severely affected than that with dominant <jats:italic>SLC4A1<\/jats:italic> mutations. Autosomal recessive inheritance was more often found in Asian patients, and more attentions should be paid to the Asian patients.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2023.1077120","type":"journal-article","created":{"date-parts":[[2023,1,26]],"date-time":"2023-01-26T07:14:50Z","timestamp":1674717290000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients"],"prefix":"10.3389","volume":"11","author":[{"given":"Mengge","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiqi","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenghui","family":"Ge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinxin","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Congcong","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,1,26]]},"reference":[{"key":"B1","first-page":"651","article-title":"Human anion exchanger1 mutations and distal renal tubular acidosis","volume":"34","author":"Yenchitsomanus","year":"2003","journal-title":"Southeast Asian J Trop Med Public Health"},{"key":"B2","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1097\/00062752-200203000-00009","article-title":"Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders","volume":"9","author":"Tanner","year":"2002","journal-title":"Curr Opin Hematol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"2573","DOI":"10.1042\/bcj20170088","article-title":"gamma-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus\u2014a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation","volume":"474","author":"Duangtum","year":"2017","journal-title":"Biochem J"},{"key":"B4","doi-asserted-by":"publisher","first-page":"5429","DOI":"10.1073\/pnas.86.14.5429","article-title":"Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H+-ATPase","volume":"86","author":"Alper","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"B5","doi-asserted-by":"publisher","first-page":"F813","DOI":"10.1152\/ajprenal.1993.265.6.F813","article-title":"Anion exchanger 1 in human kidney and oncocytoma differs from erythroid AE1 in its NH2 terminus","volume":"265","author":"Kollert-J\u00f6ns","year":"1993","journal-title":"Am J Physiol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"155","DOI":"10.3109\/09687689709048178","article-title":"The structure and function of band 3 (AE1): recent developments (review)","volume":"14","author":"Tanner","year":"1997","journal-title":"Mol Membr Biol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1146\/annurev.physiol.64.092801.141759","article-title":"Genetic diseases of acid-base transporters","volume":"64","author":"Alper","year":"2002","journal-title":"Annu Rev Physiol"},{"key":"B8","doi-asserted-by":"publisher","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":"B9","doi-asserted-by":"publisher","first-page":"1693","DOI":"10.1172\/JCI119694","article-title":"Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene","volume":"100","author":"Bruce","year":"1997","journal-title":"J Clin Invest"},{"key":"B10","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1053\/ajkd.2002.33909","article-title":"Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene","volume":"40","author":"Yenchitsomanus","year":"2002","journal-title":"Am J Kidney Dis"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2173","DOI":"10.1172\/JCI4836","article-title":"Novel AE1 mutations in recessive distal renal tubular acidosis. 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