Sanfilippo syndrome: A mini-review
Sanfilippo syndrome: A mini-review
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DOI：
10.1007/s10545-008-0838-5
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发表时间：
2008-04-01
影响因子：
4.2
通讯作者：
Wijburg, F. A.
中科院分区：
文献类型：
--
作者：
Valstar, M. J.;Ruijter, G. J. G.;Wijburg, F. A.
粘多糖病III型(MPS III，Sanfilippo综合征)是一种常染色体隐性遗传病，由参与糖氨基葡聚糖硫酸肝素溶酶体降解的四种酶中的一种缺乏引起。根据酶的缺乏，MPS被识别为四种不同的亚型，MPS IIIA、B、C和D。编码这四种酶的基因已经被鉴定，并有各种突变的报道。所有MPS III亚型的可能诊断都是基于尿中硫酸肝素浓度的升高。白细胞和/或成纤维细胞中的酶分析证实了这一诊断，并允许区分疾病的不同亚型。MPS III的临床病程可分为三个阶段。在第一阶段，通常从1到4岁开始，在生命的头1到2岁的最初正常发育之后，发育迟缓变得明显。第二阶段一般开始于3-4岁左右，以严重的行为问题和逐渐的精神退化为特征，最终导致严重的痴呆症。在第三个也是最后一个阶段，行为问题慢慢消失。但出现吞咽困难和痉挛的运动迟缓。患者通常在生命第二个十年结束或第三个十年开始时死亡，尽管有报道称存活到第四个十年。尽管目前还没有针对MPS III的有效疗法，但一些有希望的进展让人们燃起了希望，即阻止毁灭性的精神和行为恶化的治疗干预措施，可能在不久的将来是可行的。
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate. Based on the enzyme deficiency, four different subtypes, MPS IIIA, B, C, and D, are recognized. The genes encoding these four enzymes have been characterized and various mutations have been reported. The probable diagnosis of all MPS III subtypes is based on increased concentration of heparan sulfate in the urine. Enzymatic assays in leukocytes and/or fibroblasts confirm the diagnosis and allow for discrimination between the different subtypes of the disease. The clinical course of MPS III can be divided into three phases. In the first phase, which usually starts between 1 and 4 years of age, a developmental delay becomes apparent after an initial normal development during the first 1-2 years of life. The second phase generally starts around 3-4 years and is characterized by severe behavioural problems and progressive mental deterioration ultimately leading to severe dementia. In the third and final stage, behavioural problems slowly disappear. but motor retardation with swallowing difficulties and spasticity emerge. Patients usually die at the end of the second or beginning of the third decade of life, although survival into the fourth decade has been reported. Although currently no effective therapy is yet available for MPS III, several promising developments raise hope that therapeutic interventions, halting the devastating mental and behavioural deterioration, might be feasible in the near future.