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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome
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A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

机译：儿童和成人亨特综合征患者的脑脊液收集研究

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Hunter syndrome (mucopolysaccharidosis II [MPS II]) is characterized by lysosomal glycosaminoglycan (GAG) accumulation. Although a majority of patients with MPS II experience neurocognitive involvement, few data are available on cerebrospinal fluid (CSF) GAG levels in these patients. This study measured GAG levels in CSF collected from 9 patients with MPS II, including 4 adults (aged ?￠???￥18 years) with normal cognition, and 5 children, 3 of them with cognitive impairment. The CSF total GAG levels were generally higher in the 3 patients with cognitive impairment (range 842.9-2360.9 ng/mL) versus those with normal cognitive status (range 356.8-1181.1 ng/mL). Heparan sulfate levels, as measured by mass spectrometry, generally followed a similar pattern, with patients with the severe phenotype having the highest values. These data, limited by small sample size, suggest CSF GAG levels and heparan sulfate levels may be higher in patients with cognitive impairment versus patients with cognitively intact MPS II.
机译：亨特综合征（粘多糖贮积症II [MPS II]）的特征在于溶酶体糖胺聚糖（GAG）积累。尽管大多数MPS II患者经历了神经认知受累，但有关这些患者脑脊液（CSF）GAG水平的数据很少。本研究测量了从9名MPS II患者中收集的脑脊液中GAG的水平，其中包括4名认知正常的成年人（年龄≥18岁）和5名儿童（其中3名患有认知障碍）。 3名认知障碍患者（范围842.9-2360.9 ng / mL）的脑脊液总GAG水平通常高于认知状态正常的患者（范围356.8-1181.1 ng / mL）。通过质谱法测量的硫酸乙酰肝素水平通常遵循相似的模式，其中具有严重表型的患者具有最高值。这些数据受小样本量限制，表明认知障碍患者的脑脊液GAG水平和硫酸乙酰肝素水平可能高于认知完整的MPS II患者。

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