关键词: chondrodysplasia growth failure hematopoietic stem cell transplantation phenocopy skeletal dysplasia

Mesh : Humans Hematopoietic Stem Cell Transplantation / adverse effects Male Osteochondrodysplasias / genetics pathology Child, Preschool Lymphohistiocytosis, Hemophagocytic / genetics pathology etiology Growth Disorders / pathology etiology genetics

来  源:   DOI:10.1002/ajmg.a.63603

Abstract:
There is an emerging body of evidence showing that young patients, post haematopoietic stem cell transplantation (HSCT), can develop skeletal changes that mimic an osteochondrodysplasia process. The key discriminator is that these children have had otherwise normal growth and skeletal development before the therapeutic intervention (HSCT), typically for a haematological malignancy. Herein we present that case of a boy who underwent HSCT for Haemophagocytic Lymphohistiocytosis (HLH) aged 2 years. Following Intervention with HSCT this boy\'s growth has severely decelerated (stature less than 1st centile matched for age) and he has developed a spondyloepiphyseal dysplasia.
摘要:
有证据表明年轻患者,造血干细胞移植(HSCT)后,可以发展模仿骨软骨发育不良过程的骨骼变化。关键的区别是,这些儿童在治疗干预(HSCT)之前有正常的生长和骨骼发育,通常用于血液恶性肿瘤。在此,我们介绍了一名2岁男孩因吞噬细胞性淋巴组织细胞增生症(HLH)接受HSCT的情况。在接受HSCT干预后,该男孩的生长严重减速(身高小于1个百分位数的年龄匹配),并且他已经发展为脊椎骨发育不良。
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