大理石疾病 (案例报告)
Kateryna Khromykh1, Veronika Dudnyk1, Tetiana Korol1
1NATIONAL PIROGOV MEMORIAL MEDICAL UNIVERSITY, VINNYTSIA, UKRAINE.
概括
本案例研究突出了大理石病 (骨质疏松症),这是一个罕见的遗传疾病. 早期诊断和治疗,包括干细胞移植,对于管理并发症和改善患者结果至关重要.
科学领域:
- 儿科血液学 儿科血液学
- 临床遗传学 临床遗传学
- 罕见疾病 罕见疾病
背景情况:
- 大理石病,也称为骨质疏松症,是一种罕见的遗传疾病,其特征是骨质细胞功能受损.
- 这导致骨密度和脆弱性增加,使患者易患骨折和其他并发症.
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