Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review
Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review
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DOI：
10.1080/080352501750315663
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发表时间：
2001-07-01
期刊：
影响因子：
3.8
通讯作者：
Fasth, A
中科院分区：
文献类型：
--
作者：
Carlsson, G;Fasth, A
1956年，Rolf Kostmann报道了6例与早幼粒细胞/髓细胞期骨髓生成阻滞和常染色体隐性遗传相关的严重中性粒细胞减少症儿童。他将这种新症状命名为婴儿遗传性粒细胞缺乏症。今天，它被称为科斯特曼综合征或严重先天性中性粒细胞减少症。1975年，瑞典北部又公布了10例病例。本文报道了1975年报告中唯一的长期幸存者，以及1975年以后出生的另外五名属于原始“Kostmann家族”的患者。自Kostmann首次发表以来，治疗和生存发生了巨大变化。在抗生素出现之前的时代，科斯特曼综合征在生命的第一年不可避免地是致命的。结论：自10年前引入重组人粒细胞集落刺激因子（G-CSF）以来，大多数患者的寿命正常，生活质量大大提高。虽然死亡的威胁已经消失，但患者仍然有感染的问题，特别是慢性牙龈炎和牙周炎。在其他与原始“Kostmann家族”无关的严重中性粒细胞减少症组中，已观察到髓性白血病的发病率增加。然而，在这个小队列中，接受慢性G-CSF治疗的儿童没有发生恶性肿瘤。
In 1956 Rolf Kostmann reported on six children with severe neutropenia associated with a block in myelopoiesis at the promyelocyte/myelocyte stage and an autosomal recessive inheritance. He named the new syndrome infantile genetic agranulocytosis. Today it is known as Kostmann's syndrome or severe congenital neutropenia. In 1975 an additional 10 cases from northern Sweden were published. This article reports on the only long-term survivor from the 1975 report plus another five patients born after 1975 who belong to the original "Kostmann family". Treatment and survival have changed dramatically since Kostmann's first publication. In the pre-antibiotic era, Kostmann's syndrome was inevitably fatal during the first year of life.Conclusion: Since the introduction of recombinant human granulocyte colony-stimulating factor (G-CSF) about 10 y ago, most patients now enjoy a normal life span and a greatly improved quality of life. Although the threat of death has disappeared, patients still have problems with infections, especially chronic gingivitis and periodontitis. In other groups of severe neutropenia, not related to the original "Kostmann family", an increased incidence of myeloid leukaemia has been observed. However, in this small cohort none of the children on chronic G-CSF therapy have developed malignancies.