Division of Paediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Karolinska University Hospital, Huddinge, Sweden.
Acta Paediatr. 2010 Aug;99(8):1253-7. doi: 10.1111/j.1651-2227.2010.01800.x. Epub 2010 Mar 14.
The aim of this study was to present the natural clinical course in children and adolescents with MPS III diagnosed during a 30-year period in Sweden.
The patients were identified from metabolic laboratory records between 1975 and 2004. Patient data were assessed from interviews of parents and by clinical examination and records from the patients.
A total of 15 children, 68%, with MPS IIIA were diagnosed at a median age of 6.8 years (range 1.2-18.9 years). One boy had MPS IIIB and five children MPS IIIC, diagnosed at ages between 1.9 and 11.6 years. In one child the type was not determined. The median age of children with type IIIA who had deceased was 16.2 years (range 10.4-31.2 years). Ten individuals with MPS III are alive at ages between 5 and 29 years. In four families, two children were affected.
In 22 Swedish children with Sanfilippo disease an early normal development followed by a delay in speech and an appearance of behaviour problems was found in most children during the early preschool period. Mental retardation was diagnosed in almost all individuals before starting school. Early diagnosis is important in this devastating, progressive disorder, not only for genetic counselling but also for participation in future treatments.
本研究旨在展示在瑞典 30 年期间诊断出的患有 MPS III 的儿童和青少年的自然临床病程。
通过代谢实验室记录，从 1975 年至 2004 年期间识别出这些患者。通过对家长的访谈、临床检查和患者记录来评估患者数据。
共诊断出 15 名 MPS IIIA 患儿（68%），中位年龄为 6.8 岁（范围 1.2-18.9 岁）。一名男孩患有 MPS IIIB，五名儿童患有 MPS IIIC，诊断年龄在 1.9 至 11.6 岁之间。有一名儿童未确定类型。MPS IIIA 死亡患儿的中位年龄为 16.2 岁（范围 10.4-31.2 岁）。10 名 MPS III 患者存活，年龄在 5 至 29 岁之间。在四个家庭中，有两个孩子受到影响。
在 22 名患有 Sanfilippo 病的瑞典儿童中，大多数儿童在学龄前早期会出现言语发育迟缓以及行为问题。几乎所有患儿在入学前都被诊断为智力障碍。在这种具有破坏性和进行性的疾病中，早期诊断不仅对于遗传咨询很重要，对于未来治疗的参与也很重要。
