{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T15:31:49Z","timestamp":1774625509821,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T00:00:00Z","timestamp":1511913600000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cystinosis is a rare metabolic genetic disorder caused by a mutation in <jats:italic>cystinosin lysosomal cystine transporter<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">CTNS<\/jats:styled-content><\/jats:italic>). The diagnosis of nephropathic cystinosis (<jats:styled-content style=\"fixed-case\">NC<\/jats:styled-content>) is made by observing corneal cystine crystals and\/or measuring the cystine content of leukocytes. <jats:italic><jats:styled-content style=\"fixed-case\">CTNS<\/jats:styled-content><\/jats:italic> mutation analysis confirms the diagnosis of cystinosis, but leukocyte cystine measurement and <jats:italic><jats:styled-content style=\"fixed-case\">CTNS<\/jats:styled-content><\/jats:italic> analysis have not been widely available, and cystine crystals in the cornea may not be apparent in the first months of life. Cystine crystal deposition can be seen in the bone marrow earlier than corneal deposition, in patients with <jats:styled-content style=\"fixed-case\">NC<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Ten patients with cystinosis diagnosis were enrolled in the study. Medical records were reviewed retrospectively to collect demographic and clinical data such as age at diagnosis, disease presentation, parental consanguinity, family history, corneal cystine deposition, leukocyte cystine level, bone marrow cystine deposition, presence of renal failure, follow\u2010up time and prognosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Cystine crystals were seen in all of the patients\u2019 fresh bone marrow aspiration samples. Eight patients had corneal cystine deposition. Leukocyte cystine measurement could have been performed in four patients who had come from another center. Complications such as pulmonary hypertension and idiopathic intracranial hypertension (<jats:styled-content style=\"fixed-case\">IIH<\/jats:styled-content>) were observed in two patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Bone marrow aspiration might be an easy and short\u2010cut diagnostic tool for <jats:styled-content style=\"fixed-case\">NC<\/jats:styled-content> especially when it is not possible to measure fibroblast cystine content. Additionally some rare complications such as pulmonary hypertension and <jats:styled-content style=\"fixed-case\">IIH<\/jats:styled-content> can be encountered during the course of <jats:styled-content style=\"fixed-case\">NC<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.13416","type":"journal-article","created":{"date-parts":[[2017,9,5]],"date-time":"2017-09-05T00:14:47Z","timestamp":1504570487000},"page":"1178-1182","source":"Crossref","is-referenced-by-count":4,"title":["Short\u2010cut diagnostic tool in cystinosis: Bone marrow aspiration"],"prefix":"10.1111","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9109-859X","authenticated-orcid":false,"given":"Serra","family":"S\u00fcrmeli D\u00f6ven","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology Mersin University Faculty of Medicine Mersin Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Deliba\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Mersin University Faculty of Medicine Mersin Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U\u011fur Ra\u015fit","family":"Kayacan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mersin University Faculty of Medicine Mersin Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selma","family":"\u00dcnal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Mersin University Faculty of Medicine Mersin Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-015-0691-8"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra020552"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfu090"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"4791","DOI":"10.1016\/S0021-9258(18)89141-4","article-title":"Detection and characterization of carrier\u2010mediated cationic amino acid transportin lisosomes of normal and cystinotic human fibroblasts. 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