دورية أكاديمية
أعرض في EDS

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.

التفاصيل البيبلوغرافية
العنوان: Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.
المؤلفون: Köhn AF; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Grigull L; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., du Moulin M; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Kabisch S; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Ammer L; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Rudolph C; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Muschol NM; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Mar 23; Vol. 23, pp. 100578. Date of Electronic Publication: 2020 Mar 23 (Print Publication: 2020).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [New York, NY] : Elsevier Inc., [2014]-
مستخلص: Background: Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a chronic progressive neurodegenerative storage disorder caused by a deficiency of lysosomal sulfamidase. The clinical hallmarks are sleep disturbances, behavioral abnormalities and loss of cognitive, speech and motor abilities. Affected children show developmental slowing from the second year of life, dementia occurs by the age of 5 years followed by death in the second decade of life. Only a few studies concerning HSCT in MPS IIIA have been published and do not document a clear benefit of treatment.
Methods: The present study summarizes the clinical outcome of a girl with MPS IIIA who received HSCT at the age of 2.5 years. Her clinical course was compared with the natural history of six untreated MPS IIIA patients carrying the same mutations (p.R74C and p. R245H) in the SGSH -gene.
Results: Eight years after successful HSCT, the patient showed a global developmental delay. However, cognitive abilities continued to develop, albeit very slowly. There was no sign of regression. She could talk in short sentences, had good motor abilities and performed basic daily living activities by herself. She did not present with sleeping problems, but behavioral abnormalities were profound. In contrast, the six untreated patients with identical mutations in the SGSH -gene showed the typical progressive course of disease with early and continuous loss of abilities.
Conclusions: The present data suggest a beneficial effect of HSCT performed at an early stage of MPS IIIA on cognitive skills, motor function and quality of life.
Competing Interests: Anja F. Köhn has received honoraria from Genzyme and Shire as well as travel grants from Amicus. Nicole M. Muschol is a consultant for BioMarin, Sanofi Genzyme, Lysogene, Shire, and SOBI, has received grants/research support from Amicus, BioMarin, Sanofi Genzyme, and Shire, and has received honoraria and/or travel grants from Actelion, Amicus, BioMarin, Chiesi Farmaceutici S.p.A., Sanofi Genzyme, and Shire. All other authors declare that they have no competing interests
(© 2020 University Medical Center Hamburg Eppendorf.)
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فهرسة مساهمة: Keywords: AEq, age-equivalent score; ATG, antithymocyte globulin; Avg., Average; DQ, developmental quotient; FPSS, four point scoring system; GAG, Glykosaminoglycans; HSCT; HSCT, hematopoietic stem cell transplantation; ICLD, International Center for Lysosomal Disorders; MPS IH, mucopolysaccharidosis type I (Hurler syndrome); MPS IIIA; MPS IIIA, mucopolysaccharidosis type IIIA; MPS IIIB, mucopolysaccharidosis type IIIB; Mucopolysaccharidosis type III; Natural history; SGSH, N-sulfoglucosamine sulfohydrolase; Sanfilippo syndrome; Stem cell transplantation; TDS, total disability score; UCBT, umbilical cord blood-derived hematopoietic stem cell transplantation; VABS-II, Vineland Adaptive Behavior Scales; y, years
تواريخ الأحداث: Date Created: 20200401 Latest Revision: 20231113
رمز التحديث: 20231113
مُعرف محوري في PubMed: PMC7093801
DOI: 10.1016/j.ymgmr.2020.100578
PMID: 32226768
قاعدة البيانات: MEDLINE
الوصف
تدمد:2214-4269
DOI:10.1016/j.ymgmr.2020.100578