Donadieu J
Service d'hématologie et oncologie pédiatrique, hôpital Trousseau AP-HP, 26, avenue du Dr Netter, 75012 Paris, France.
Arch Pediatr. 2003 Sep;10 Suppl 4:521s-523s. doi: 10.1016/s0929-693x(03)90061-3.
Many circumstances lead to discover a neutropenia in paediatric practice. In most of the cases, it is an acquired, transient neutropenia, related to a viral or a bacterial infection, a malignant haemopathy, or an acquired auto-immune neutropenia, also called benign chronic neutropenia. Constitutional disorder with neutropenia is more exceptional. Many complex genetic diseases include a neutropenia, among which several immunologic disorders that could be easily diagnosed by immunological tests. Other complex genetic diseases include Shwachman-Diamond syndrome, associating an external pancreatic insufficiency with bone and skin abnormalities; Glycogen storage disease type Ib, with metabolic disorder. Primary constitutional neutropenias are limited to very few entities. Kostmann's disease is a permanent isolated neutropenia, usually associated with a bone marrow granulopoeisis blockage; cyclic neutropenia is characterised by recurrent oscillations (every 21 days) of neutrophil count. Elastase 2 gene mutations have been observed in both diseases. Treatment and prevention of severe infections are a major concern in the management of chronic neutropenia and could be achieved by prophylactic antibiotics (like sulfamethoxazole-trimethoprime) and also G-CSF, which is regularly effective, but could facilitate various side-effects. Constitutional neutropenias, especially Kostmann's disease and Shwachman-Diamond syndrome, are associated with an increased leukemic risk.
在儿科临床实践中，多种情况可导致发现中性粒细胞减少症。在大多数情况下，这是一种获得性、暂时性中性粒细胞减少症，与病毒或细菌感染、恶性血液病或获得性自身免疫性中性粒细胞减少症（也称为良性慢性中性粒细胞减少症）有关。伴有中性粒细胞减少症的先天性疾病则较为罕见。许多复杂的遗传疾病都包括中性粒细胞减少症，其中一些免疫性疾病可通过免疫检测轻易诊断。其他复杂的遗传疾病包括施瓦赫曼-戴蒙德综合征，伴有胰腺外分泌功能不全以及骨骼和皮肤异常；Ib型糖原贮积病，伴有代谢紊乱。原发性先天性中性粒细胞减少症仅限于极少数病种。科斯特曼病是一种持续性孤立性中性粒细胞减少症，通常与骨髓粒细胞生成阻滞有关；周期性中性粒细胞减少症的特征是中性粒细胞计数反复波动（每21天一次）。在这两种疾病中均观察到了弹性蛋白酶2基因突变。在慢性中性粒细胞减少症的管理中，严重感染的治疗和预防是主要关注点，可通过预防性使用抗生素（如磺胺甲恶唑-甲氧苄啶）以及粒细胞集落刺激因子（G-CSF）来实现，G-CSF通常有效，但可能会引发各种副作用。先天性中性粒细胞减少症，尤其是科斯特曼病和施瓦赫曼-戴蒙德综合征，与白血病风险增加有关。
