布罗苏马布,在患有皮肤骨低度症候群的儿科患者中是一种变革性治疗方法
Paulo Cesar Alves da Silva1, Vinicius Rene Giombelli1, Fernando Henrique Galvão Tessaro2
1Department of Pediatric Endocrinology, Hospital Infantil Joana de Gusmão, Florianópolis 88025-301, Brazil.
JCEM case reports
|October 17, 2024
概括
皮肤骨低血症综合征 (CSHS) 是一种罕见的遗传性疾病. 用布罗苏马布治疗抗FGF23的疗法有效地治疗了一名年轻患者,改善了骨矿化和缓解症状.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 皮肤骨低血症综合征 (CSHS) 是一种罕见的遗传性疾病.
- CSHS的特征是黑色细胞,骨损伤和FGF23介导的低酸性病.
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