INFANTILE GENETIC AGRANULOCYTOSIS
INFANTILE GENETIC AGRANULOCYTOSIS
复制标题
婴儿遗传性粒细胞增多症
DOI：
10.1111/j.1651-2227.1975.tb03847.x
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发表时间：
1975
期刊：
影响因子：
--
通讯作者：
R. Kostmann
中科院分区：
文献类型：
--
作者：
R. Kostmann
摘要：科斯特曼(瑞典乌普萨拉大学医院儿科)。婴儿遗传性粒细胞缺乏症。《儿科学报》，：第362,1975。--结合瑞典北部的10例新病例，回顾了自1956年以来有关这一主题的文献。其中9个与1956年发表的主要谱系有关。在其中两个新家庭中，父母之间的血缘关系已经建立起来。临床病程与1956年描述的相同。文中还介绍了一些附加细节。粒细胞减少在出生的第一天出现，随后粒细胞计数在第一周迅速减少。人们认为胎盘异常因素的存在可能性很高。推测粒系前体细胞成熟缺陷可能与血清因子缺乏有关。最后解释了许多婴儿遗传性粒细胞缺乏症零星发生的事实。
ABSTRACT: Kostmann, R. R. O. (Department of Paediatrics, University Hospital, Uppsala, Sweden). Infantile genetic agranulocytosis. Acta Paediatr Stand, 64:362, 1975.–A review of the literature on the subject since 1956 is made in connection with a presentation of ten new cases from northern Sweden. Nine of these are related to the main pedigree published in 1956. Consanguinity between the parents has been established in two of the new families. The clinical course was identical to that described in 1956. A few additional details are presented. The granulocytopenia is present on the first day of life and the granulocyte count subsequently rapidly decreases during the first week. The existence of a diaplacental factor is regarded highly probable. It is assumed that the maturation defect in the granulocyte precursors may be due to deficiency of a serum factor. The fact that many cases of infantile genetic agranulocytosis occur sporadically is finally explained.