Furqan M. Abdulelah, Mohammed M. Mohammed, Rabab Hassan Baaker
{"title":"造血干细胞移植治疗伊拉克粘多糖病(Hurler综合征“I型”和Maroteaux-Lamy综合征“VI型”)2例","authors":"Furqan M. Abdulelah, Mohammed M. Mohammed, Rabab Hassan Baaker","doi":"10.32947/ajps.v22i4.958","DOIUrl":null,"url":null,"abstract":"Mucopolysaccharidosis I (MPS I) or Hurler and Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome are infrequent genetic disorder inherited as an autosomal recessive disease attributed to genetic \n \nvariants genetic variant causing α-L iduronidase (IDUA) and arylsulfatase B (ARSB)enzyme deficiency, respectively. Here, two cases of children suffering from MPS disorder were described, the first case was MPS I while the second case was MPS VI and both cases were treated with allogenic Hematopoietic Stem Cell Transplantation approach in order to limit skeletal deterioration and retard neurocognitive alterations and hence, improve the quality of life of affected children. Following Transplantations outcomes reveal a full engraftment of donor cells as well as improvement of recipient enzymatic activity, enzyme replacement therapy post-transplantation will augment transplantation clinical outcomes. Transplantation will be more successful if the disease diagnosed early before the severe irreversible symptoms ensue.","PeriodicalId":7406,"journal":{"name":"Al Mustansiriyah Journal of Pharmaceutical Sciences","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Case study of two Iraqi patients with Mucopolysaccharidosis (Hurler syndrome \\\"type I\\\" and Maroteaux-Lamy syndrome \\\"type VI\\\") treated with Hematopoietic Stem Cell Transplantation (HSCT)\",\"authors\":\"Furqan M. Abdulelah, Mohammed M. Mohammed, Rabab Hassan Baaker\",\"doi\":\"10.32947/ajps.v22i4.958\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Mucopolysaccharidosis I (MPS I) or Hurler and Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome are infrequent genetic disorder inherited as an autosomal recessive disease attributed to genetic \\n \\nvariants genetic variant causing α-L iduronidase (IDUA) and arylsulfatase B (ARSB)enzyme deficiency, respectively. Here, two cases of children suffering from MPS disorder were described, the first case was MPS I while the second case was MPS VI and both cases were treated with allogenic Hematopoietic Stem Cell Transplantation approach in order to limit skeletal deterioration and retard neurocognitive alterations and hence, improve the quality of life of affected children. Following Transplantations outcomes reveal a full engraftment of donor cells as well as improvement of recipient enzymatic activity, enzyme replacement therapy post-transplantation will augment transplantation clinical outcomes. Transplantation will be more successful if the disease diagnosed early before the severe irreversible symptoms ensue.\",\"PeriodicalId\":7406,\"journal\":{\"name\":\"Al Mustansiriyah Journal of Pharmaceutical Sciences\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Al Mustansiriyah Journal of Pharmaceutical Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32947/ajps.v22i4.958\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Al Mustansiriyah Journal of Pharmaceutical Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32947/ajps.v22i4.958","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Case study of two Iraqi patients with Mucopolysaccharidosis (Hurler syndrome "type I" and Maroteaux-Lamy syndrome "type VI") treated with Hematopoietic Stem Cell Transplantation (HSCT)
Mucopolysaccharidosis I (MPS I) or Hurler and Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome are infrequent genetic disorder inherited as an autosomal recessive disease attributed to genetic
variants genetic variant causing α-L iduronidase (IDUA) and arylsulfatase B (ARSB)enzyme deficiency, respectively. Here, two cases of children suffering from MPS disorder were described, the first case was MPS I while the second case was MPS VI and both cases were treated with allogenic Hematopoietic Stem Cell Transplantation approach in order to limit skeletal deterioration and retard neurocognitive alterations and hence, improve the quality of life of affected children. Following Transplantations outcomes reveal a full engraftment of donor cells as well as improvement of recipient enzymatic activity, enzyme replacement therapy post-transplantation will augment transplantation clinical outcomes. Transplantation will be more successful if the disease diagnosed early before the severe irreversible symptoms ensue.