黏多糖病Ⅶ型一例分析

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.

Abstract：

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.     

Mucopolysaccharidosis Ⅶ:report of a case and renew of the literature

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.     

52例黏多糖病酶学分型及临床特点分析

目的：探讨黏多糖病（MPS）疾病谱及其临床特点。方法：对2009年1月至2011年12月75例高度疑似MPS患儿同时进行尿黏多糖（GAG）定量和电泳分析以及7种MPS酶学分析。采用荧光分析法分别检测白细胞α-L-艾杜糖酶、艾杜糖-2-硫酸酯酶、α-N-乙酰氨基葡糖苷酶、半乳糖胺-6-硫酸酯酶、β-半乳糖苷酶、芳基硫酸酯酶B及β-葡萄糖醛酸酶活性。结果：根据临床、放射学及酶学检查确诊MPS 52例,年龄4.0±2.2岁,其中I型5例（10%）,Ⅱ型20例（38%）,ⅣA型20例（38%）,Ⅵ型6例（12%）,Ⅶ型1例（2%）,未发现ⅢB、ⅣB型患儿。除2例ⅣA型患儿外,其余50例MPS 患儿尿GAG/Gr比值均较同龄儿增高。尿GAG定量增高者均确诊为MPS。绝大多数患儿于生后1~2岁起病,常伴有疝、心脏瓣膜病。Ⅰ、Ⅱ、Ⅵ 型患儿表现面容丑陋、皮肤粗糙、矮小、关节僵硬及活动受限,ⅣA型主要表现为矮小、骨骼畸形及关节松弛。结论：MPS Ⅱ型和ⅣA型是MPS最常见类型,其次是Ⅵ型及Ⅰ型。MPS患儿以特殊外貌为临床特点,包括面容丑陋、皮肤粗糙、矮小、骨骼畸形等。尿GAG定量测定可作为一种简便、快速、可靠的MPS筛查方法在临床上推广应用。     

不同剂量重组人生长激素在特发性矮小症中的治疗效果观察

目的观察研究重组人生长激素不同剂量应用在特发性矮小症的临床效果。方法选取2013-07—2017-05间收治的93例特发性矮小症(ISS)患儿,通过生长激素激发试验患儿峰值大于10μg/L,符合ISS诊断标准,依据用药剂量差别分组,三组共同使用重组人生长激素,每组用药剂量依次递减,分析三组治疗期间的生长效果和药物副反应。结果剂量高组患儿身高(139.82±21.34)cm和生长速度预测值(13.72±5.74)cm/年相比较剂量中组和低组参数值优,差异有统计学意义(P<0.05),三组骨龄值比较差异无统计学意义(P>0.05);剂量中组患儿药物副反应6.46(2/31)少于剂量高组和低组副反应情况,差异有统计学意义(P<0.05)。结论研究分析显示不同剂量的药剂使用对特发性矮小症有不同程度的影响,中等剂量药剂可以保障药性发挥效果也可以降低药物副作用,用药安全得到保障。     

尿粘多糖定量测定及其临床应用

【目的】建立一种快速、简便、可靠的尿粘多糖定量检测方法,用于临床筛查粘多糖病(mucopolysacchari-dosis,MPS)患者。【方法】采用1,9-二甲基亚甲蓝(1,9-dimethylmethylene blue,DMB)在碱性条件下与尿中粘多糖(glycosaminoglycan,GAG)反应生成粉红色产物及分光光度计比色原理,检测267例正常人、12例MPS患儿及30例非MPS患儿的尿GAG含量,并同时检测尿肌酐(creatinine,Cr),计算GAG/Cr比值。【结果】正常人尿GAG水平常低于70 mg/L,且与年龄无显著相关。而GAG/Cr比值随年龄的递增呈递减趋势。除1例IVA型MPS患者外,其余11例MPS患儿尿GAG浓度及GAG/Cr比值均显著高于同龄正常儿童参考值,而非MPS患儿的尿GAG及GAG/Cr比值均在正常范围内。GAG测定的批内变异系数为1.3%,批间变异系数为3.6%,硫酸类肝素的回收率为(102±6.0)%。【结论】DMB-Tris比色法测定尿GAG是一种快速、简便、标本用量少、特异性和敏感性均较高的定量检测方法,可作为MPS的筛查方法在临床上推广应用。