Joyce R A, Boggs D R, Chervenick P A
N Engl J Med. 1976 Dec 16;295(25):1385-90. doi: 10.1056/NEJM197612162952501.
Neutrophil production and distribution were studied in two families with autosomal dominantly inherited neutropenia to distinguish their illness from other neutropenic disorders. In addition to a reduced post-mitotic pool of bone-marrow neutrophils and neutrophil precursors, mitotic pool size was also reduced, ranging from 1.1 to 2.9 X 10(9) cells per kilogram (normal, 3.8 +/- 0.4 X 10(9) per kilogram). In vitro committed stem cells were reduced as well, ranging from 2 to 12/10(5) marrow cells (normal, 30 to 120/10(5)). In three patients neutrophil counts were observed to return to normal when they were adults. In one such subject studied, however, both the mitotic pool of neutrophil precursors and marrow committed stem cells were reduced. These abnormalities were in contrast to studies of a patient with chronic benign neutropenia of childhood and an infant with Kostmann-type congenital neutropenia, both of whom had increased marrow committed stem cells. These studies demonstrate several different mechanisms for production of neutropenia in these syndromes.
在两个常染色体显性遗传中性粒细胞减少症家族中研究了中性粒细胞的生成和分布,以将其疾病与其他中性粒细胞减少症区分开来。除了骨髓中性粒细胞和中性粒细胞前体的有丝分裂后池减少外,有丝分裂池大小也减少,范围为每千克1.1至2.9×10⁹个细胞(正常为每千克3.8±0.4×10⁹个)。体外定向干细胞也减少,范围为每10⁵个骨髓细胞中有2至12个(正常为30至120/10⁵)。在三名患者中,观察到中性粒细胞计数在成年时恢复正常。然而,在一名接受研究的此类受试者中,中性粒细胞前体的有丝分裂池和骨髓定向干细胞均减少。这些异常情况与一名儿童慢性良性中性粒细胞减少症患者和一名患有科斯特曼型先天性中性粒细胞减少症的婴儿的研究结果形成对比,这两名患者的骨髓定向干细胞均增加。这些研究证明了这些综合征中中性粒细胞减少症产生的几种不同机制。