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高索儿干骺端发育不良:髓质破坏贫血的一个罕见病因。

Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.

机构信息

The Johns Hopkins University School of Medicine, Division of Hematology, Baltimore, Maryland, USA.

出版信息

Pediatr Blood Cancer. 2010 Dec 1;55(6):1187-90. doi: 10.1002/pbc.22662.

Abstract

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare clinical syndrome characterized by increased bone density and a severe, myelophthisic anemia. Few cases have been reported worldwide and there are no detailed descriptions of the associated hematologic abnormalities and long-term clinical outcomes after treatment. Here, we report two siblings with GHDD who were successfully treated with chronic, low dose, corticosteroid therapy. Although GHDD is uncommon, these cases illustrate the need to consider GHDD in patients with anemia and bone dysplasia and the use of chronic, low-dose steroid therapy.

摘要

Ghosal 干骺端发育不良综合征(GHDD)是一种罕见的临床综合征,其特征为骨密度增加和严重的骨髓增生性贫血。全世界仅有少数病例报道,且尚无关于相关血液学异常和治疗后长期临床结局的详细描述。在此,我们报告了两例 GHDD 同胞患者,他们成功接受了慢性、低剂量皮质类固醇治疗。尽管 GHDD 并不常见,但这些病例说明在贫血和骨发育不良患者中需要考虑 GHDD,并采用慢性、低剂量类固醇治疗。

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