Polgreen L E, Tolar J, Plog M, Himes J H, Orchard P J, Whitley C B, Miller B S, Petryk A
Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.
Bone Marrow Transplant. 2008 Jun;41(12):1005-11. doi: 10.1038/bmt.2008.20. Epub 2008 Feb 18.
Short stature is characteristic of Hurler syndrome, or mucopolysaccharidosis type IH (MPS IH). Hematopoietic stem cell transplantation (HSCT) is used to treat children with MPS IH. While HSCT corrects some of the metabolic features of MPS IH, its effects on growth are not well delineated. We investigated growth in patients with MPS IH after HSCT and described accompanying endocrine abnormalities. A cohort of 48 patients with MPS IH who had received HSCT between 1983 and 2005 were included. The prevalence of short stature (height <-2 s.d. score, SDS) before HSCT was 9%, and increased to 71% at last follow-up (6.9+/-5.1 years after HSCT). Short stature was positively associated with increased age at HSCT (P=0.002) and TBI (P=0.009). In total, 23% had growth hormone deficiency and/or low insulin-like growth factor-1, one female patient had premature adrenarche, one precocious puberty and 27% had clinical or subclinical hypothyroidism. Growth failure is highly prevalent in children with MPS IH after HSCT. Children who had no TBI exposure and were younger at the time of HSCT had a better height outcome.
身材矮小是黏多糖贮积症I型（MPS IH），即Hurler综合征的特征。造血干细胞移植（HSCT）用于治疗MPS IH患儿。虽然HSCT可纠正MPS IH的一些代谢特征，但其对生长的影响尚不清楚。我们研究了HSCT后MPS IH患者的生长情况，并描述了伴随的内分泌异常。纳入了一组48例在1983年至2005年间接受HSCT的MPS IH患者。HSCT前身材矮小（身高<-2标准差评分，SDS）的患病率为9%，在最后一次随访时（HSCT后6.9±5.1年）增至71%。身材矮小与HSCT时年龄增加（P=0.002）和颅脑照射（TBI）（P=0.009）呈正相关。总共23%的患者存在生长激素缺乏和/或胰岛素样生长因子-1水平低，1例女性患者出现肾上腺早现，1例性早熟，27%的患者有临床或亚临床甲状腺功能减退。HSCT后MPS IH患儿生长失败非常普遍。未接受TBI且HSCT时年龄较小的患儿身高预后较好。
