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黏多糖病Ⅶ型一例分析 被引量：3

Mucopolysaccharidosis Ⅶ：report of a case and renew of the literature
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摘要 目的 探讨黏多糖病Ⅶ型的临床特征及诊断.方法 分析1例经酶学诊断的黏多糖病Ⅶ型患儿的临床表现、尿黏多糖及白细胞酶学结果.结果 2个月男婴,主要表现水肿胎,精神运动发育迟缓,面部丑陋,角膜混浊、肝脾肿大,腹股沟疝,PLT 32×109/L,白细胞胞浆粗大的AlderReilly颗粒.尿黏多糖532.8 mg/L（正常对照＜70.0 mg/L）,尿黏多糖/尿肌酐比值161.3（正常对照26.2±11.7）,血清壳三糖苷酶315.8 nmol/（ml·h）[正常对照＜53 nmol/（ml·h）].外周血白细胞β-葡萄糖醛酸苷酶活性为0 nmol/（mg·h）[正常对照44.4～200.8 nmol/（mg·h）].结论 黏多糖病Ⅶ型表现为水肿胎,肝脾肿大、面部丑陋,血小板减少及白细胞胞浆粗大的Alder-Reilly颗粒.尿黏多糖测定和白细胞β-葡萄糖醛酸苷酶活性测定对疾病的诊断和鉴别诊断至关重要. objective To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis Ⅶ. Method The clinical and biochemical features of an infant with mucopolysaccharidosis Ⅶ confirmed by enzyme assay were analyzed.Result The 2 month-old male infant showed hydrops fetalis，mental retardation，coarse face，corneal clouding，hepatosplenomegaly，hernias，Alder-Reilly granules in the leucocytes and decreased platelet（32×109/L）.The biochemical markers showed urinary glycosaminoglycans（GAG）（532.8 mg/L，controls＜70.0 mg/L）.The ratio of GAG/creatinine was 161.3（controls：26.2±11.7）.Serum chitotriosidase activity was 315.8 nmol/（ml·h） [control ＜53 mol/（ml·h）].Beta-glucuronidase activity was deficient in isolated leukocytes.Conclusion Severe form of mucopolysaecharidosis Ⅶ exhibited characteristics of hydrops fetalis.hepatosplenomegaly， coarse face，thromboeytopenia and Alder-Reilly granules in the leucocytes.The measurements of GAG in urinary and beta glucuronidase in leucocytes are critical to diagnosis and deferential diagnosis.
作者 黄永兰 李社勇 赵小媛 刘鸿圣 区小冰 刘丽
机构地区 广州市妇女儿童医疗中心内分泌代谢科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2011年第6期455-458,共4页 Chinese Journal of Pediatrics
基金 广东省自然科学基金（8451018005001798）
关键词 黏多糖累积病Ⅶ型 水肿 胎儿 葡糖醛酸糖苷酶 Mucopolysaceharidosis Ⅶ Hydrops fetalis Glucuronidase
分类号 R725.8 [医药卫生—儿科]
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参考文献19

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二级参考文献22

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引证文献3

二级引证文献17

中华儿科杂志
2011年 第6期

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