Early disease progression of Hurler syndrome
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- 作者：Bridget T. Kiely ; Jennifer L. Kohler…
- 关键词：Mucopolysaccharidosis type I ; MPS I ; Hurler syndrome ; lysosomal storage disorders ; Newborn screening ; Natural history
- 刊名：Orphanet Journal of Rare Diseases
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：12
- 期：1
- 全文大小：1988KB
- 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Human Genetics;
- 出版者：BioMed Central
- ISSN：1750-1172
- 卷排序：12
文摘
BackgroundNewborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler–Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening. Information about the natural history of Hurler syndrome may aid in the management of affected infants, contribute to treatment decisions, and facilitate evaluation of treatment effectiveness and prognosis. Thus, the aim of this study was to characterize the progression and timing of symptom onset in infants with Hurler syndrome.