Charrow J, Esplin J A, Gribble T J, Kaplan P, Kolodny E H, Pastores G M, Scott C R, Wappner R S, Weinreb N J, Wisch J S
Department of Pediatrics, Children's Memorial Hospital and Northwestern University Medical School, Chicago, Ill 60614, USA.
Arch Intern Med. 1998 Sep 14;158(16):1754-60. doi: 10.1001/archinte.158.16.1754.
Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable patients and visceral organ involvement can lead to abdominal pain and secondary hematologic and biochemical complications.
To seek clinical consensus for minimum recommendations for effective diagnosis and monitoring of patients with type I Gaucher disease. PARTICIPANTS, EVIDENCE, AND CONSENSUS PROCESS: Contributing authors collaborated in quarterly meetings over a 2-year period to synthesize recommendations from peer-reviewed publications and their own medical experiences. These physicians care for most patients with Gaucher disease in the United States and serve as the US Regional Coordinators for the International Collaborative Gaucher Group Registry, the world's largest database for this disorder.
The definitive method of diagnosis is enzyme assay of beta-glucocerebrosidase activity. Schedules differ for monitoring complications of type I Gaucher disease, depending on symptoms and whether enzyme replacement therapy is used. Hematologic and biochemical involvement should be assessed by complete blood cell count, including platelets, acid phosphatase, and liver enzymes, at baseline and every 12 months in untreated patients and every 3 months and at enzyme replacement therapy changes in treated patients. Visceral involvement should be assessed at diagnosis using magnetic resonance imaging or computed tomographic scans. Skeletal involvement should be assessed at diagnosis using T1- and T2-weighted magnetic resonance imaging of the entire femora and plain radiography of the femora, spine, and symptomatic sites. Follow-up skeletal and visceral assessments are recommended every 12 to 24 months in untreated patients, and every 12 months and at enzyme replacement therapy changes in treated patients.
对I型戈谢病患者进行及时诊断和持续监测至关重要，因为骨骼受累可导致患者永久性残疾，而内脏器官受累可引发腹痛以及继发性血液学和生化并发症。
寻求关于I型戈谢病患者有效诊断和监测的最低建议的临床共识。参与者、证据和共识过程：参与撰写的作者在两年时间内每季度召开会议，综合同行评审出版物中的建议以及他们自己的医疗经验。这些医生诊治了美国大多数戈谢病患者，并担任国际戈谢病协作组注册中心的美国区域协调员，该注册中心是世界上关于这种疾病的最大数据库。
确诊方法是检测β-葡萄糖脑苷脂酶活性。I型戈谢病并发症的监测时间表因症状以及是否使用酶替代疗法而异。对于未接受治疗的患者，应在基线时以及此后每12个月通过全血细胞计数（包括血小板、酸性磷酸酶和肝酶）评估血液学和生化受累情况；对于接受治疗的患者，应每3个月以及在酶替代疗法改变时进行评估。在诊断时应使用磁共振成像或计算机断层扫描评估内脏受累情况。在诊断时应使用整个股骨的T1加权和T2加权磁共振成像以及股骨、脊柱和有症状部位的X线平片评估骨骼受累情况。建议未接受治疗的患者每12至24个月进行一次骨骼和内脏随访评估，接受治疗的患者每12个月以及在酶替代疗法改变时进行评估。
