Jovana Tubić-Vukajlović, Lana Bojović, Nevena Jevremović, Ivan Simić
{"title":"塞尔维亚共和国男孩II型粘多糖病(Hunter综合征)1例报告","authors":"Jovana Tubić-Vukajlović, Lana Bojović, Nevena Jevremović, Ivan Simić","doi":"10.5937/kgjsci2345327t","DOIUrl":null,"url":null,"abstract":"Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes. A two-year-old boy was hospitalized and diagnosed with macrocephaly, hepatomegaly and at the age of four, an iduronate 2-sulfatase (IDS) gene analysis was performed and a mutation on the 3rd exon (c.262C>T, p.R88C) on the X chromosome was determined. Only four years after the diagnosis of Hunter syndrome, the boy begins to receive enzyme therapy - the drug Elaprase. During the period of receiving therapy, the boy's progression of the disease was significantly reduced.","PeriodicalId":17829,"journal":{"name":"Kragujevac Journal of Science","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report\",\"authors\":\"Jovana Tubić-Vukajlović, Lana Bojović, Nevena Jevremović, Ivan Simić\",\"doi\":\"10.5937/kgjsci2345327t\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes. A two-year-old boy was hospitalized and diagnosed with macrocephaly, hepatomegaly and at the age of four, an iduronate 2-sulfatase (IDS) gene analysis was performed and a mutation on the 3rd exon (c.262C>T, p.R88C) on the X chromosome was determined. Only four years after the diagnosis of Hunter syndrome, the boy begins to receive enzyme therapy - the drug Elaprase. During the period of receiving therapy, the boy's progression of the disease was significantly reduced.\",\"PeriodicalId\":17829,\"journal\":{\"name\":\"Kragujevac Journal of Science\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Kragujevac Journal of Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5937/kgjsci2345327t\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kragujevac Journal of Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5937/kgjsci2345327t","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report
Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes. A two-year-old boy was hospitalized and diagnosed with macrocephaly, hepatomegaly and at the age of four, an iduronate 2-sulfatase (IDS) gene analysis was performed and a mutation on the 3rd exon (c.262C>T, p.R88C) on the X chromosome was determined. Only four years after the diagnosis of Hunter syndrome, the boy begins to receive enzyme therapy - the drug Elaprase. During the period of receiving therapy, the boy's progression of the disease was significantly reduced.