中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2011年
6期
455-458
,共4页
黄永兰%李社勇%赵小媛%刘鸿圣%区小冰%刘丽
黃永蘭%李社勇%趙小媛%劉鴻聖%區小冰%劉麗
황영란%리사용%조소원%류홍골%구소빙%류려
黏多糖累积病Ⅶ型%水肿,胎儿%葡糖醛酸糖苷酶
黏多糖纍積病Ⅶ型%水腫,胎兒%葡糖醛痠糖苷酶
점다당루적병Ⅶ형%수종,태인%포당철산당감매
Mucopolysaceharidosis Ⅶ%Hydrops fetalis%Glucuronidase
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.
目的 探討黏多糖病Ⅶ型的臨床特徵及診斷.方法 分析1例經酶學診斷的黏多糖病Ⅶ型患兒的臨床錶現、尿黏多糖及白細胞酶學結果.結果 2箇月男嬰,主要錶現水腫胎,精神運動髮育遲緩,麵部醜陋,角膜混濁、肝脾腫大,腹股溝疝,PLT 32×109/L,白細胞胞漿粗大的AlderReilly顆粒.尿黏多糖532.8 mg/L(正常對照＜70.0 mg/L),尿黏多糖/尿肌酐比值161.3(正常對照26.2±11.7),血清殼三糖苷酶315.8 nmol/(ml·h)[正常對照＜53 nmol/(ml·h)].外週血白細胞β-葡萄糖醛痠苷酶活性為0 nmol/(mg·h)[正常對照44.4～200.8 nmol/(mg·h)].結論 黏多糖病Ⅶ型錶現為水腫胎,肝脾腫大、麵部醜陋,血小闆減少及白細胞胞漿粗大的Alder-Reilly顆粒.尿黏多糖測定和白細胞β-葡萄糖醛痠苷酶活性測定對疾病的診斷和鑒彆診斷至關重要.
목적 탐토점다당병Ⅶ형적림상특정급진단.방법 분석1례경매학진단적점다당병Ⅶ형환인적림상표현、뇨점다당급백세포매학결과.결과 2개월남영,주요표현수종태,정신운동발육지완,면부축루,각막혼탁、간비종대,복고구산,PLT 32×109/L,백세포포장조대적AlderReilly과립.뇨점다당532.8 mg/L(정상대조＜70.0 mg/L),뇨점다당/뇨기항비치161.3(정상대조26.2±11.7),혈청각삼당감매315.8 nmol/(ml·h)[정상대조＜53 nmol/(ml·h)].외주혈백세포β-포도당철산감매활성위0 nmol/(mg·h)[정상대조44.4～200.8 nmol/(mg·h)].결론 점다당병Ⅶ형표현위수종태,간비종대、면부축루,혈소판감소급백세포포장조대적Alder-Reilly과립.뇨점다당측정화백세포β-포도당철산감매활성측정대질병적진단화감별진단지관중요.
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.
