Descriptive study with data analysis of bone pathology in allo-HSCT for IEI was performed between 1/1/2000 to 31/12/2018 including patients alive at follow-up to July 2022. Records were analyzed for bone pathology and risk factors. Exclusion criteria included isolated reduced bone density, fractures, and skeletal anomalies due to underlying IEI and short stature without other bone pathology. Bone pathologies were divided into 5 categories: bone tumors; skeletal dysplasia; avascular necrosis; evolving bone deformities; slipped upper femoral epiphysis.
A total of 429 children received HSCT between 2000 and 2018; 340 are alive at last assessment. Non-osteopenic bone pathology was observed post-HSCT in 9.4% of patients (32/340, mean 7.8 years post-HSCT). Eleven patients (34%) had > 1 category of bone pathology. Seventeen patients (17/32; 53%) presented with bilateral bone pathology. The majority of patients received treosulfan-based conditioning (26/32; 81.2%). Totally, 65.6% (21/32) of patients had a history of prolonged steroid use (> 6 months). Pain was the presenting symptom in 66% of patients, and surgical intervention was required in 43.7%. The highest incidence of bone pathologies was seen in Wiskott-Aldrich syndrome (WAS) (n = 8/34; 23.5%) followed by hemophagocytic lymphohistiocytosis patients (n = 3/16; 18.8%).
Non-osteopenic bone pathology in long-term survivors of allo-HSCT for IEI is not rare. Most patients did not present with complaints until at least 5 years post-HSCT highlighting the need for ongoing bone health assessment for patients with IEI. Children presenting with stunted growth and bone pathology post-HSCT should undergo skeletal survey to rule out development of post-HSCT skeletal dysplasia. Increased rates and complexity of bone pathology were seen amongst patients with Wiskott-Aldrich syndrome.
方法:在2000年1月1日至2018年12月31日之间进行了描述性研究,并对IEI的allo-HSCT的骨病理学进行数据分析,包括随访至2022年7月的患者。分析骨病理和危险因素。排除标准包括孤立的骨密度降低,骨折,和骨骼异常由于潜在的IEI和身材矮小没有其他骨病理。骨病理分为5类:骨肿瘤;骨骼发育不良;无血管坏死;不断发展的骨畸形;股骨上骨phy骨滑脱。
结果:在2000年至2018年期间,共有429名儿童接受了HSCT;最后评估中有340名还活着。9.4%的患者在HSCT后观察到非骨质疏松性骨病理学(32/340,平均HSCT后7.8年)。11例患者(34%)有>1类的骨病理。17例患者(17/32;53%)表现为双侧骨病理。大多数患者接受基于曲硫丹的调理(26/32;81.2%)。完全正确,65.6%(21/32)的患者有长期使用类固醇(>6个月)的病史。疼痛是66%患者的症状,需要手术干预的占43.7%。骨病理发生率最高的是Wiskott-Aldrich综合征(WAS)(n=8/34;23.5%),其次是噬血细胞性淋巴组织细胞增生症患者(n=3/16;18.8%)。
结论:在IEI的allo-HSCT长期存活者中,非骨量减少的骨病理学并不罕见。大多数患者直到HSCT后至少5年才出现投诉,强调需要对IEI患者进行持续的骨骼健康评估。HSCT后出现发育迟缓和骨骼病理的儿童应进行骨骼检查,以排除HSCT后骨骼发育不良的发展。在Wiskott-Aldrich综合征患者中,骨病理学的发生率和复杂性增加。