Diagnostic Approach in Cystinuria: A Case Report

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dc.authoridBulbul, Selda/0000-0002-6457-149X
dc.authoridKocagozoglu, Sevim Gonca/0000-0002-3983-0090
dc.contributor.authorBulbul, Selda
dc.contributor.authorGulbahce, Aliye
dc.contributor.authorKocagozoglu, Sevim Gonca
dc.date.accessioned2025-01-21T16:34:51Z
dc.date.available2025-01-21T16:34:51Z
dc.date.issued2021
dc.departmentKırıkkale Üniversitesi
dc.description.abstractCystinuria is an, inherited metabolic disorder progressing with recurrent kidney stones due to impaired reabsorption of dibasic amino acids and arises from mutations in the SLC3A1 and SLC7A9 on chromosome 2. Cystine crystals were detected in the urinalysis of a 17 -year -old male patient who was investigated for recurrent kidney stones. Because of demonstration of cystine excretion in the urinary amino acid analysis and having positive family history, we suspected Cystinuria Type B and initiated supportive therapy. However, based on the results of molecular analyses his diagnosis was changed as Cystinuria Type A. In conclusion, our final diagnosis was changed according to the molecular analyses but our treatment approach did not change. Therefore we would like to emphasize that, prominent physical examination findings and supportive laboratory test results will be sufficient for the diagnosis of cystinuria.
dc.identifier.doi10.5222/TP.2021.44153
dc.identifier.endpage103
dc.identifier.issn2718-0085
dc.identifier.issn2792-0429
dc.identifier.issue2
dc.identifier.scopus2-s2.0-85162773137
dc.identifier.scopusqualityQ4
dc.identifier.startpage99
dc.identifier.trdizinid535893
dc.identifier.urihttps://doi.org/10.5222/TP.2021.44153
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay535893
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24014
dc.identifier.volume2
dc.identifier.wosWOS:001226219500008
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.publisherGalenos Publ House
dc.relation.ispartofTrends In Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectDiagnostic approach in cystinuria
dc.titleDiagnostic Approach in Cystinuria: A Case Report
dc.typeArticle

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