{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T06:11:39Z","timestamp":1771481499555,"version":"3.50.1"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0120_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Proximal renal tubular acidosis (pRTA) is characterized by a defect in the ability of the proximal convoluted tubule to reabsorb bicarbonate. The biochemical hallmark of pRTA is hyperchloremic metabolic acidosis with a normal anion gap, accompanied by appropriate acidification of the urine (simultaneous urine pH &lt;5.3). Isolated defects in bicarbonate transport are rare, and pRTA is more often associated with Fanconi syndrome (FS), which is characterized by urinary loss of phosphate, uric acid, glucose, amino acids, low-molecular-weight proteins, and bicarbonate. Children with pRTA may present with rickets, but pRTA is often overlooked as an underlying cause of this condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0120_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report six children with rickets and short stature due to pRTA. One case was idiopathic, while the remaining five had a specific underlying condition: Fanconi-Bickel syndrome, Dent's disease, nephropathic cystinosis, type 1 tyrosinemia, and sodium-bicarbonate cotransporter 1-A (NBC1-A) defect.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0120_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Five of these six children had features of FS, while the one with NBC1-A defect had isolated pRTA.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0155","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T05:40:30Z","timestamp":1689140430000},"page":"879-885","source":"Crossref","is-referenced-by-count":2,"title":["Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9392-3300","authenticated-orcid":false,"given":"Pankaj","family":"Singhania","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism , Institute of Postgraduate Medical Education and Research , Kolkata , West Bengal , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhranil","family":"Dhar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Institute of Postgraduate Medical Education and Research , Kolkata , West Bengal , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aditya","family":"Deshpande","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Institute of Postgraduate Medical Education and Research , Kolkata , West Bengal , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debaditya","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Institute of Postgraduate Medical Education and Research , Kolkata , West Bengal , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neeti","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Medical College Kolkata , Kolkata , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3316-4525","authenticated-orcid":false,"given":"Partha Pratim","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Medical College Kolkata , Kolkata , West Bengal , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0362-5036","authenticated-orcid":false,"given":"Rana","family":"Bhattacharjee","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Medical College Kolkata , Kolkata , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajitesh","family":"Roy","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Vivekananda Institute of Medical Sciences , Kolkata , West Bengal , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,7,13]]},"reference":[{"key":"2023090517184946724_j_jpem-2023-0155_ref_001","doi-asserted-by":"crossref","unstructured":"Shore, RM, Chesney, RW. Rickets: Part I. Pediatr Radiol 2012;43:140\u201351. https:\/\/doi.org\/10.1007\/s00247-012-2532-x.","DOI":"10.1007\/s00247-012-2532-x"},{"key":"2023090517184946724_j_jpem-2023-0155_ref_002","doi-asserted-by":"crossref","unstructured":"Bagga, A, Sinha, A. Renal tubular acidosis. Indian J Pediatr 2020;87:733\u201344. https:\/\/doi.org\/10.1007\/s12098-020-03318-8.","DOI":"10.1007\/s12098-020-03318-8"},{"key":"2023090517184946724_j_jpem-2023-0155_ref_003","doi-asserted-by":"crossref","unstructured":"Haque, SK, Ariceta, G, Batlle, D. Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrol Dial Transpl 2012;27:4273\u201387. https:\/\/doi.org\/10.1093\/ndt\/gfs493.","DOI":"10.1093\/ndt\/gfs493"},{"key":"2023090517184946724_j_jpem-2023-0155_ref_004","doi-asserted-by":"crossref","unstructured":"Brenner, RJ, Spring, DB, Sebastian, A, McSherry, EM, Genant, HK, Palubinskas, AJ, et al.. Incidence of radiographically evident bone disease, nephrocalcinosis, and nephrolithiasis in various types of renal tubular acidosis. N Engl J Med 1982;307:217\u201321. https:\/\/doi.org\/10.1056\/nejm198207223070403.","DOI":"10.1056\/NEJM198207223070403"},{"key":"2023090517184946724_j_jpem-2023-0155_ref_005","doi-asserted-by":"crossref","unstructured":"Agrawal, C, Chakraborty, PP. Rickets in renal tubular acidosis: a clinical appraisal. Clin Exp Nephrol 2020;1:17\u201324.","DOI":"10.46439\/nephrology.1.004"},{"key":"2023090517184946724_j_jpem-2023-0155_ref_006","doi-asserted-by":"crossref","unstructured":"Kashoor, I, Batlle, D. Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res Clin Pract 2019;38:267\u201381. https:\/\/doi.org\/10.23876\/j.krcp.19.056.","DOI":"10.23876\/j.krcp.19.056"},{"key":"2023090517184946724_j_jpem-2023-0155_ref_007","doi-asserted-by":"crossref","unstructured":"Gentile, C, Chiarelli, F. Rickets in children: an update. 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