A Child Presenting with Mucopolysaccharidosis  

作　　者：Ntombizodwa Madi Fatima Yakoub Moosa Kebashni Thandrayen Ntombizodwa Madi;Fatima Yakoub Moosa;Kebashni Thandrayen(Department of Paediatrics, Chris Hani Baragwanath Academic Hospital, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa)

机构地区：[1]Department of Paediatrics, Chris Hani Baragwanath Academic Hospital, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

出　　处：《Case Reports in Clinical Medicine》2022年第8期337-353,共16页临床医学病理报告（英文）

摘　　要：The lysosomal storage disorders are a group of diseases that are typified by an accumulation of waste products in the lysosomes. Mucopolysaccharidoses are lysosomal storage disorders due to diverse lysosomal enzyme deficiencies. Ms HT was 2 years and 5 months old when she presented to our metabolic bone clinic with clinical features that were suggestive of a genetic syndrome that was associated with a metabolic bone disease. The urine GAG spot test was positive. The MPS screen identified a reduction in arylsulfatase B activity and sequencing of the ARSB gene detected a pathogenic variant, in keeping with Maroteaux-Lamy syndrome. The diagnosis of MPS is confirmed by urine GAG, enzyme activity analysis and genetic testing. The available treatments include hematopoietic stem cell transplantation, enzyme replacement therapy and surgery. MPSs are heterogeneous, progressive, multisystem diseases for which diagnosis is often delayed. Greater awareness of MPS will enable early diagnosis and treatment. Treatment is however costly and is frequently unavailable to patients in the public sector.The lysosomal storage disorders are a group of diseases that are typified by an accumulation of waste products in the lysosomes. Mucopolysaccharidoses are lysosomal storage disorders due to diverse lysosomal enzyme deficiencies. Ms HT was 2 years and 5 months old when she presented to our metabolic bone clinic with clinical features that were suggestive of a genetic syndrome that was associated with a metabolic bone disease. The urine GAG spot test was positive. The MPS screen identified a reduction in arylsulfatase B activity and sequencing of the ARSB gene detected a pathogenic variant, in keeping with Maroteaux-Lamy syndrome. The diagnosis of MPS is confirmed by urine GAG, enzyme activity analysis and genetic testing. The available treatments include hematopoietic stem cell transplantation, enzyme replacement therapy and surgery. MPSs are heterogeneous, progressive, multisystem diseases for which diagnosis is often delayed. Greater awareness of MPS will enable early diagnosis and treatment. Treatment is however costly and is frequently unavailable to patients in the public sector.

关 键 词：MUCOPOLYSACCHARIDOSIS Lysosomal Storage Disorders Maroteaux-Lamy Syndrome 

分 类 号：R73[医药卫生—肿瘤]