{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,21]],"date-time":"2024-01-21T15:17:05Z","timestamp":1705850225129},"reference-count":27,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p> This study was conducted to investigate <jats:italic>CTNS<\/jats:italic> (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p> Patients\u2019 clinical and laboratory data were extracted from an electronic health registry. Molecular <jats:italic>CTNS<\/jats:italic> gene analysis was performed using either next-generation sequencing or Sanger sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p> Eleven patients (age range: 1.5\u201312 years) from nine families were identified. The presenting complaint was growth retardation in seven patients; polydipsia and polyuria in three patients; and vomiting in two patients. At presentation, electrolyte loss was noted in all patients, of which eight patients presented with metabolic acidosis, and three patients presented with metabolic alkalosis. All patients also presented with proteinuria and glucosuria, and four patients developed varying degrees of renal insufficiency, for which peritoneal dialysis was initiated in one patient. Cystine crystals were detected via ocular examination in one patient at presentation. No cystine crystals were detected among patients who underwent bone marrow aspiration. In the <jats:italic>CTNS<\/jats:italic> gene, a p.T7FX7 (c.18-21del4bp) mutation was detected in three patients, whereas a p.E227E (c.681 G&gt;A) (homozygous) mutation was detected in eight patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p> We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G&gt;A) (homozygous), in the <jats:italic>CTNS<\/jats:italic> gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G&gt;A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2014-0477","type":"journal-article","created":{"date-parts":[[2016,6,7]],"date-time":"2016-06-07T10:01:14Z","timestamp":1465293674000},"page":"965-969","source":"Crossref","is-referenced-by-count":5,"title":["Cystinosis in Eastern Turkey"],"prefix":"10.1515","volume":"29","author":[{"given":"Murat","family":"Do\u011fan","sequence":"first","affiliation":[{"name":"Yuzuncu Yil University , Department of Pediatrics , Division of Pediatric Endocrinology, Van, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keziban","family":"Bulan","sequence":"additional","affiliation":[{"name":"Yuzuncu Yil University , Department of Pediatrics , Division of Pediatric Endocrinology, Van, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sultan","family":"Kaba","sequence":"additional","affiliation":[{"name":"Yuzuncu Yil University , Department of Pediatrics , Division of Pediatric Endocrinology, Van, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya\u015far","family":"Cesur","sequence":"additional","affiliation":[{"name":"Bezmi Alem Vak\u0131f University, Department of Pediatrics , Division of Pediatric Endocrinology and Metabolism, \u0130stanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Department of Genetics, Intergen Genetic Center, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lokman","family":"Ustyol","sequence":"additional","affiliation":[{"name":"Yuzuncu Yil University , Department of Pediatrics , Division of Pediatric Nephrology, Van, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2016,6,7]]},"reference":[{"key":"2023040100561085682_j_jpem-2014-0477_ref_001_w2aab2b8b2b1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Gahl WA. Nephropathic cystinosis. Pediatr Rev 1997;18:302\u20134.","DOI":"10.1542\/pir.18.9.302"},{"key":"2023040100561085682_j_jpem-2014-0477_ref_002_w2aab2b8b2b1b7b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"The Cystinosis Collaborative Research Group. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 1995;10:246\u20138.","DOI":"10.1038\/ng0695-246"},{"key":"2023040100561085682_j_jpem-2014-0477_ref_003_w2aab2b8b2b1b7b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Town M, Jean G, Cherqui S, Attard M, Forestier L, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998;18:319\u201324.","DOI":"10.1038\/ng0498-319"},{"key":"2023040100561085682_j_jpem-2014-0477_ref_004_w2aab2b8b2b1b7b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Gahl WA, Thoene JG, Schneider JA. Cystinosis. 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