{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:44:39Z","timestamp":1765233879697,"version":"3.37.3"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"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":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Schimke immuno-osseous-dysplasia (SIOD) is an autosomal recessive systemic disease due to pathogenic variants in <jats:italic>SMARCAL1<\/jats:italic>. Manifestations include nephrotic syndrome (NS), kidney failure, T-cell dysfunction, vaso-occlusive disease, and disproportionate short stature, a general feature of this disease. Here, we present a markedly different growth pattern in two brothers with SIOD sharing the same homozygous R561C missense variant. The index patient presented at the age of 11\u00a0years with NS and severely disproportionate short stature, followed by kidney failure at the age of 16, and severely reduced adult height (<jats:italic>z<\/jats:italic>-score\u2009\u2212\u20098.0). In contrast, the younger brother showed normal growth until the age of 8\u00a0years. Mild proteinuria was noted at the age of 4.5, followed by NS at 9.5\u00a0years, kidney failure at 11\u00a0years, progressive disproportionate stature, and reduced adult height (<jats:italic>z<\/jats:italic>-score\u2009\u2212\u20094.5). Both brothers had comparable disproportion in adulthood (sitting height index <jats:italic>z<\/jats:italic>-score\u2009\u2212\u20090.88 and\u2009\u2212\u20091.44, respectively).<\/jats:p>","DOI":"10.1007\/s00467-024-06503-5","type":"journal-article","created":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T22:45:48Z","timestamp":1726785948000},"page":"701-703","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia"],"prefix":"10.1007","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3492-2252","authenticated-orcid":false,"given":"Arend","family":"Bokenkamp","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Bouts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neeltje","family":"van der Weerd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Levtchenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Haffner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miroslav","family":"Zivicnjak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,9,18]]},"reference":[{"issue":"8","key":"6503_CR1","doi-asserted-by":"publisher","first-page":"e0180926","DOI":"10.1371\/journal.pone.0180926","volume":"12","author":"BS Lipska-Zi\u0119tkiewicz","year":"2017","unstructured":"Lipska-Zi\u0119tkiewicz BS, Gellermann J, Boyer O, Gribouval O, Zi\u0119tkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepanska M, Bienias B, Drozdz D, Odeh R, Jarmuzek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F, PodoNet Consortium (2017) Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. PLoS One 12:e0180926","journal-title":"PloS one"},{"key":"6503_CR2","doi-asserted-by":"publisher","first-page":"e400","DOI":"10.1542\/peds.2005-2614","volume":"118","author":"T Lucke","year":"2006","unstructured":"Lucke T, Franke D, Clewing JM, Boerkoel CF, Ehrich JH, Das AM, Zivicnjak M (2006) Schimke versus non-Schimke chronic kidney disease: an anthropometric approach. Pediatrics 118:e400-407","journal-title":"Pediatrics"},{"key":"6503_CR3","doi-asserted-by":"publisher","first-page":"1724","DOI":"10.1007\/s00467-005-2047-x","volume":"20","author":"A Bokenkamp","year":"2005","unstructured":"Bokenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M (2005) R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. Pediatr Nephrol 20:1724\u20131728","journal-title":"Pediatr Nephrol"},{"key":"6503_CR4","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1002\/ajmg.a.30691","volume":"135","author":"T Lucke","year":"2005","unstructured":"Lucke T, Billing H, Sloan EA, Boerkoel CF, Franke D, Zimmering M, Ehrich JH, Das AM (2005) Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. Am J Med Genet A 135:202\u2013205","journal-title":"Am J Med Genet A"},{"issue":"22","key":"6503_CR5","doi-asserted-by":"publisher","first-page":"8604","DOI":"10.3390\/ijms21228604","volume":"21","author":"C Bertulli","year":"2020","unstructured":"Bertulli C, Marzollo A, Doria M, Di Cesare S, La Scola C, Mencarelli F, Pasini A, Affinita MC, Vidal E, Magini P, Dimartino P, Masetti R, Greco L, Palomba P, Conti F, Pession A (2020) Expanding phenotype of Schimke immuno-osseous dysplasia: congenital anomalies of the kidneys and of the urinary tract and alteration of NK cells. Int J Mol Sci 21(22):8604","journal-title":"Int J Mol Sci"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-024-06503-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-024-06503-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-024-06503-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,20]],"date-time":"2025-01-20T10:21:38Z","timestamp":1737368498000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-024-06503-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,18]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["6503"],"URL":"https:\/\/doi.org\/10.1007\/s00467-024-06503-5","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"type":"print","value":"0931-041X"},{"type":"electronic","value":"1432-198X"}],"subject":[],"published":{"date-parts":[[2024,9,18]]},"assertion":[{"value":"12 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 July 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 August 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}