Ohga S, Nakao F, Narazaki O, Fusazaki N, Aoki T, Kamesaki K, Hara T
Department of Paediatrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Arch Dis Child. 1997 Sep;77(3):252-4. doi: 10.1136/adc.77.3.252.
An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported. He presented with the characteristic features of monosomy 21 syndrome, such as psychomotor retardation, hypertonia, large saccular ears, prominent nasal bridge, micrognathia, thrombocytopenia, and patent ductus arteriosus. His serum IgG concentration was less than 1.5 g/l at 3 years and 6 months of age after repeated hospitalisations with pneumonia, otitis media, and convulsions. Regular replacement of intravenous gammaglobulin effectively reduced such infectious episodes. A predisposition to infection in patients with ring chromosome 21 may be explained by hypogammaglobulinaemia and merit treatment with gammaglobulin.
报告了一名8岁患有21号环状染色体的男孩，由于低丙种球蛋白血症易患呼吸道感染。他表现出21号染色体单体综合征的特征，如精神运动发育迟缓、肌张力亢进、大囊状耳、鼻梁突出、小颌畸形、血小板减少和动脉导管未闭。在因肺炎、中耳炎和惊厥反复住院后，他3岁6个月时血清IgG浓度低于1.5g/L。定期静脉注射丙种球蛋白替代治疗有效减少了此类感染发作。21号环状染色体患者易感染可能是由于低丙种球蛋白血症所致，值得用丙种球蛋白治疗。
