{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:26:36Z","timestamp":1786980396718,"version":"build-2736575974"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:00:00Z","timestamp":1779148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:00:00Z","timestamp":1779148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Renal tubular disease causes loss of electrolytes and other molecules. One of these electrolytes is inorganic sulfate, which is reabsorbed by dedicated transporters, including NaS1, encoded by the\n                      <jats:italic>SLC13A1<\/jats:italic>\n                      gene. Still, inorganic sulfate is rarely measured in clinical practice, although it is essential for the development and functioning of several organ systems. The importance of adequate sulfate stores is emphasized by genetic disorders impairing sulfate metabolism in the brain, bone, and the endocrine system, causing severe neurodevelopmental disorders, skeletal dysplasia, and hormonal imbalance. Low availability due to renal loss of inorganic sulfate has also been linked to these disorders. We aimed to assess the prevalence of renal inorganic sulfate wasting in renal tubular diseases in a small cohort as an exploratory study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Inorganic sulfate was measured in serum and urine of patients with proximal renal tubular disorders using remnant material obtained during routine check-ups. Fractional excretion of inorganic sulfate was calculated alongside plasma inorganic sulfate concentrations and cystatin C\u2013based eGFR.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fourteen patients were included, in whom 1 to 4 paired measurements of urine and plasma inorganic sulfate were available. Five patients had decreased plasma sulfate on at least one occasion; 13 patients had increased fractional excretion in at least one measurement. In patients with cystinosis, during cysteamine treatment plasma inorganic sulfate levels were often normal despite increased fractional excretion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Increased inorganic sulfate loss is prevalent in children with proximal tubular defects and sulfate stores can be repleted by oral drugs like cysteamine.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Graphical abstract<\/jats:title>\n                    <jats:p>\n                      A higher resolution version of the Graphical abstract is available as Supplementary Information. Please also add its.pptx as ESM with the name Graphical abstract. Please see\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/doi.org\/10.1007\/s00467-021-05287-2\" ext-link-type=\"uri\">https:\/\/doi.org\/10.1007\/s00467-021-05287-2<\/jats:ext-link>\n                      for reference\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00467-026-07359-7","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:49:09Z","timestamp":1779194949000},"page":"3605-3609","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sulfate handling in proximal renal tubular defects: an exploratory study"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7300-9378","authenticated-orcid":false,"given":"Emil den","family":"Bakker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9382-613X","authenticated-orcid":false,"given":"Miriam","family":"Wamelink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2053-3392","authenticated-orcid":false,"given":"Desiree E. C.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8352-7312","authenticated-orcid":false,"given":"Elena N.","family":"Levtchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3492-2252","authenticated-orcid":false,"given":"Arend","family":"B\u00f6kenkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"7359_CR1","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1042\/EBC20230097","volume":"68","author":"E den Bakker","year":"2024","unstructured":"den Bakker E, Smith DEC, Finken MJJ, Wamelink MMC, Salomons GS, van de Kamp JM, Bokenkamp A (2024) Sulfate: a neglected (but potentially highly relevant) anion. Essays Biochem 68:391\u2013399. https:\/\/doi.org\/10.1042\/EBC20230097","journal-title":"Essays Biochem"},{"key":"7359_CR2","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/j.ggg.2016.08.001","volume":"44","author":"R Langford","year":"2017","unstructured":"Langford R, Hurrion E, Dawson PA (2017) Genetics and pathophysiology of mammalian sulfate biology. J Genet Genomics 44:7\u201320. https:\/\/doi.org\/10.1016\/j.ggg.2016.08.001","journal-title":"J Genet Genomics"},{"key":"7359_CR3","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1369\/0022155420959147","volume":"69","author":"CP Mencio","year":"2021","unstructured":"Mencio CP, Hussein RK, Yu P, Geller HM (2021) The role of chondroitin sulfate proteoglycans in nervous system development. J Histochem Cytochem 69:61\u201380. https:\/\/doi.org\/10.1369\/0022155420959147","journal-title":"J Histochem Cytochem"},{"key":"7359_CR4","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21082710","volume":"21","author":"C Paganini","year":"2020","unstructured":"Paganini C, Gramegna Tota C, Superti-Furga A, Rossi A (2020) Skeletal dysplasias caused by sulfation defects. Int J Mol Sci 21:2710. https:\/\/doi.org\/10.3390\/ijms21082710","journal-title":"Int J Mol Sci"},{"key":"7359_CR5","doi-asserted-by":"publisher","first-page":"2101","DOI":"10.1161\/HYPERTENSIONAHA.124.23421","volume":"81","author":"JJ Oppelaar","year":"2024","unstructured":"Oppelaar JJ, Ferwerda B, Romman MA, Sahebdin GN, Zwinderman AH, Galenkamp H, Boekholdt SM, van den Born BH, Olde Engberink RHG, Vogt L (2024) Genetic variance in heparan sulfation is associated with salt sensitivity. Hypertension 81:2101\u20132112. https:\/\/doi.org\/10.1161\/HYPERTENSIONAHA.124.23421","journal-title":"Hypertension"},{"key":"7359_CR6","doi-asserted-by":"publisher","first-page":"2310","DOI":"10.1056\/NEJMoa0810489","volume":"360","author":"C Noordam","year":"2009","unstructured":"Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FC, Claahsen-van der Grinten HL, Arlt W (2009) Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med 360:2310\u20132318. https:\/\/doi.org\/10.1056\/NEJMoa0810489","journal-title":"N Engl J Med"},{"key":"7359_CR7","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1111\/cge.14239","volume":"103","author":"JM van de Kamp","year":"2023","unstructured":"van de Kamp JM, Bokenkamp A, Smith DEC, Wamelink MMC, Jansen EEW, Struys EA, Waisfisz Q, Verkleij M, Hartmann MF, Wang R, Wudy SA, Paganini C, Rossi A, Finken MJJ (2023) Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia. Clin Genet 103:45\u201352. https:\/\/doi.org\/10.1111\/cge.14239","journal-title":"Clin Genet"},{"key":"7359_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2024.101958","volume":"3","author":"CG Tise","year":"2025","unstructured":"Tise CG, Ashton K, de Hayr L, Lee KD, Patkar OL, Krzesinski E, Bassetti JA, Carter EM, Raggio C, Zankl A, Khanshour AM, Atala KN, Rios JJ, Wise CA, Zhu Y, Zhang F, Roscioli T, Buckley M, Harvey RJ, Dawson PA (2025) Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia. Genetics in Medicine Open 3:101958. https:\/\/doi.org\/10.1016\/j.gimo.2024.101958","journal-title":"Genetics in Medicine Open"},{"key":"7359_CR9","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1093\/ndt\/gfw425","volume":"32","author":"H Pottel","year":"2017","unstructured":"Pottel H, Delanaye P, Schaeffner E, Dubourg L, Eriksen BO, Melsom T, Lamb EJ, Rule AD, Turner ST, Glassock RJ, De Souza V, Selistre L, Goffin K, Pauwels S, Mariat C, Flamant M, Ebert N (2017) Estimating glomerular filtration rate for the full age spectrum from serum creatinine and Cystatin C. Nephrol Dial Transplant 32:497\u2013507. https:\/\/doi.org\/10.1093\/ndt\/gfw425","journal-title":"Nephrol Dial Transplant"},{"key":"7359_CR10","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/0009-8981(80)90423-4","volume":"107","author":"DE Cole","year":"1980","unstructured":"Cole DE, Scriver CR (1980) Age-dependent serum sulfate levels in children and adolescents. Clin Chim Acta 107:135\u2013139. https:\/\/doi.org\/10.1016\/0009-8981(80)90423-4","journal-title":"Clin Chim Acta"},{"key":"7359_CR11","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s10528-012-9550-0","volume":"51","author":"FG Bowling","year":"2013","unstructured":"Bowling FG, Heussler HS, McWhinney A, Dawson PA (2013) Plasma and urinary sulfate determination in a cohort with autism. Biochem Genet 51:147\u2013153. https:\/\/doi.org\/10.1007\/s10528-012-9550-0","journal-title":"Biochem Genet"},{"key":"7359_CR12","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/s0021-9673(97)00821-2","volume":"789","author":"DE Cole","year":"1997","unstructured":"Cole DE, Evrovski J (1997) Quantitation of sulfate and thiosulfate in clinical samples by ion chromatography. J Chromatogr A 789:221\u2013232. https:\/\/doi.org\/10.1016\/s0021-9673(97)00821-2","journal-title":"J Chromatogr A"},{"key":"7359_CR13","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagen.2022.130225","volume":"1866","author":"SJ Karpowicz","year":"2022","unstructured":"Karpowicz SJ, Anderson L (2022) Enzymatic and non-enzymatic conversion of cystamine to thiotaurine and taurine. Biochim Biophys Acta Gen Subj 1866:130225. https:\/\/doi.org\/10.1016\/j.bbagen.2022.130225","journal-title":"Biochim Biophys Acta Gen Subj"},{"key":"7359_CR14","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1016\/j.drudis.2013.02.003","volume":"18","author":"M Besouw","year":"2013","unstructured":"Besouw M, Masereeuw R, van den Heuvel L, Levtchenko E (2013) Cysteamine: an old drug with new potential. Drug Discov Today 18:785\u2013792. https:\/\/doi.org\/10.1016\/j.drudis.2013.02.003","journal-title":"Drug Discov Today"},{"key":"7359_CR15","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1007\/s10545-009-9006-9","volume":"34","author":"MH Stipanuk","year":"2011","unstructured":"Stipanuk MH, Ueki I (2011) Dealing with methionine\/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur. J Inherit Metab Dis 34:17\u201332. https:\/\/doi.org\/10.1007\/s10545-009-9006-9","journal-title":"J Inherit Metab Dis"},{"key":"7359_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s0023200100028","volume":"181","author":"ME Morris","year":"2001","unstructured":"Morris ME, Murer H (2001) Molecular mechanisms in renal and intestinal sulfate (re)absorption. J Membr Biol 181:1\u20139. https:\/\/doi.org\/10.1007\/s0023200100028","journal-title":"J Membr Biol"},{"key":"7359_CR17","first-page":"255","volume":"8","author":"D Michalk","year":"1982","unstructured":"Michalk D, Manz F, Muller-Wiefel DE, Scharer K (1982) Renal handling of inorganic sulfate in children with chronic kidney disorders. Miner Electrolyte Metab 8:255\u2013260","journal-title":"Miner Electrolyte Metab"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07359-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-026-07359-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-026-07359-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:47:35Z","timestamp":1786978055000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-026-07359-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,19]]},"references-count":17,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["7359"],"URL":"https:\/\/doi.org\/10.1007\/s00467-026-07359-7","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-8907668\/v1","asserted-by":"object"}]},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,19]]},"assertion":[{"value":"18 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 May 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 May 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}}]}}