Children's Hospital of Philadelphia, University of Pennsylvania, 9th Floor, Colket Translational Research Building, Civic Center Blvd, Philadelphia, PA 19104, USA.
Eur J Pediatr. 2013 Apr;172(4):447-58. doi: 10.1007/s00431-012-1771-z. Epub 2012 Jul 8.
Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and manifest growth retardation, delayed puberty, early-onset osteopenia, significant splenomegaly, hepatomegaly, thrombocytopenia, anemia, severe bone pain, acute bone crises, and fractures. Symptomatic children with types 1 or 3 should receive enzyme replacement therapy, which will prevent debilitating and often irreversible disease progression and allow those with non-neuropathic disease to lead normal healthy lives. Children should be monitored every 6 months (physical exam including growth, spleen and liver volume, neurologic exam, hematologic indices) and have one to two yearly skeletal assessments (bone density and imaging, preferably with magnetic resonance, of lumbar vertebrae and lower limbs), with specialized cardiovascular monitoring for some type 3 patients. Response to treatment will determine the frequency of monitoring and optimal dose of enzyme replacement. Treatment of children with type 2 (most severe) neuropathic Gaucher disease is supportive. Pre-symptomatic children, usually with type 1 Gaucher, increasingly are being detected because of affected siblings and screening in high-prevalence communities. In this group, annual examinations (including bone density) are recommended. However, monitoring of asymptomatic children with affected siblings should be guided by the age and severity of manifestations in the first affected sibling. Treatment is necessary only if signs and symptoms develop.
Early detection and treatment of symptomatic types 1 and 3 Gaucher disease with regular monitoring will optimize outcome. Pre-symptomatic children require regular monitoring. Genetic counseling is important.
戈谢病是一种常见于儿童期的遗传性泛种族疾病，由溶酶体酶葡糖脑苷脂酶活性缺乏引起。主要有两种表型：非神经型（1 型）和神经型（2 型和 3 型）。有症状的儿童受严重影响，表现为生长迟缓、青春期延迟、早发性骨质疏松症、明显的脾肿大、肝肿大、血小板减少、贫血、严重骨痛、急性骨危象和骨折。1 型或 3 型有症状的儿童应接受酶替代治疗，这将防止进行性衰弱和经常不可逆转的疾病进展，并使非神经型疾病患者能够过上正常健康的生活。儿童应每 6 个月监测一次（体检包括生长、脾和肝体积、神经系统检查、血液学指标），每年进行一到两次骨骼评估（骨密度和成像，最好使用磁共振成像，评估腰椎和下肢），一些 3 型患者需要进行专门的心血管监测。治疗反应将决定监测的频率和酶替代的最佳剂量。2 型（最严重）神经型戈谢病的儿童治疗是支持性的。由于受影响的兄弟姐妹和高发社区的筛查，越来越多的有症状的儿童（通常为 1 型戈谢病）被发现。在这一组中，建议每年进行体检（包括骨密度）。然而，对有受影响兄弟姐妹的无症状儿童的监测应根据第一个受影响兄弟姐妹的临床表现的年龄和严重程度来指导。只有出现体征和症状时才需要治疗。
定期监测和早期发现和治疗有症状的 1 型和 3 型戈谢病，并进行常规监测，将优化治疗效果。无症状儿童需要定期监测。遗传咨询很重要。
