Roe T F, Thomas D W, Gilsanz V, Isaacs H, Atkinson J B
J Pediatr. 1986 Jul;109(1):55-9. doi: 10.1016/s0022-3476(86)80572-8.
We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with glycogen storage disease type Ib (GSD-Ib). A chance association of these diseases in two patients is unlikely. Studies of their neutrophils showed severe chronic neutropenia (mean absolute granulocyte counts of less than 500 cells/microliter) and markedly deficient chemotactic response (less than 5% of reference values) in the patients with GSD-Ib and normal neutrophil values in four patients with glycogen storage disease type Ia (GSD-Ia). Monocyte counts and responses to chemotactic stimulation were normal in both GSD-Ia and GSD-Ib. Chronic inflammatory bowel disease appears to be associated with GSD-Ib, and neutrophil abnormalities may be involved in the pathogenesis of the bowel inflammation.
我们在两名患有Ib型糖原贮积病（GSD-Ib）的男孩中观察到了慢性炎症性肠病的发展，其与克罗恩病难以区分。这两种疾病在两名患者中偶然关联的可能性不大。对他们的中性粒细胞研究显示，GSD-Ib患者存在严重的慢性中性粒细胞减少症（平均绝对粒细胞计数低于500个细胞/微升）且趋化反应明显不足（低于参考值的5%），而四名Ia型糖原贮积病（GSD-Ia）患者的中性粒细胞值正常。GSD-Ia和GSD-Ib患者的单核细胞计数及对趋化刺激的反应均正常。慢性炎症性肠病似乎与GSD-Ib相关，中性粒细胞异常可能参与了肠道炎症的发病机制。
