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一个年轻女孩的显着不和的低光
Vikram Prakash1, Samer Elbabaa1, Richard Banks2
1Leon Pediatric Neuroscience Center of Excellence, Arnold Palmer Hospital for Children, Orlando, FL 32806, USA.
Bone
|May 23, 2025
概括
低酸盐症 (HPP) 是一种影响骨矿物化的遗传疾病. 这一案例凸显了HPP呈现的显著变异性,即使是在家庭内,强调了早期诊断和量身定制治疗的必要性.
科学领域:
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
- 儿科内分泌学 儿科内分泌学
背景情况:
- 低度症 (HPP) 是一种遗传性代谢障碍,由ALPL基因突变引起,导致组织非特异性酸酶 (TNSALP) 活性不足.
- HPP的特征是血清酸酸酶的低水平,TNSALP基质 (PEA,PLP,PPi) 的血水平升高,骨矿化受损,导致病和牙异常.
- HPP的严重程度表现出显著的变异性,不能完全由遗传模式或已知的>470个ALPL突变来解释,即使在完全兄弟姐妹中也观察到不一致的表型.
研究的目的:
- 为了调查一个具有明显不一致的表型的儿科低度症 (HPP) 病例.
- 探索HPP的基因型-表型可塑性和早期诊断的临床影响.
- 评估阿斯酶α TNSALP补充疗法的有效性,以控制严重的HPP表现.
主要方法:
- 一个女孩的临床病例介绍,她患有严重的HPP症状,包括高血症,发育不良,脏损害,脑瘤和脑.
- 诊断工作包括对性酸酶活性和TNSALP基质的生物化学测定,通过整个外体序列测序进行基因分析和放射性评估.
- 治疗包括阿斯酶α TNSALP补充疗法和脏移植.
主要成果:
- 患者出现了危及生命的高血症,发育不良和脏损害,后来发展为脑瘤和骨突.
- 整体外基因组测序发现了一种异合体ALPL突变 (c.1034C>T,p.A345V),此前与轻度HPP相关,从无症状的母亲继承.
- 阿斯酶α疗法有效地纠正了对骨抗吸收药物无反应的高血症,突出了其治疗潜力.
结论:
- 这一案例强调了儿科低度症中显著的基因型/表型可塑性,即使具有已知的轻度HPP相关突变,也表现出极端的可变性.
- 临床课程强调了早期诊断和HPP遗传检测的重要性,特别是在异常或严重的病例中.
- 阿斯酶α TNSALP补充疗法为严重的HPP表现提供了有前途的治疗选择,包括耐火性高血症.
关键词:
性酸酶是一种性酸酶.阿尔法酸酸酶是什么这是一种失明,失明.慢性脏疾病 慢性脏疾病脏和尿路的先天性异常 (CAKUT) 综合征头骨突发症是什么 头骨突发症是什么纤维细胞生长因子 23 23过高血症的情况.低酸盐血症是什么低酸盐症 (hypophosphatasia) 是一种低酸盐症.无机酸盐是一种无机酸盐.代谢性骨病是一种代谢性骨病.多因素性疾病是多因素性疾病.脏结症是什么 脏结症副甲状腺激素相关的蛋白质与甲状腺激素相关的蛋白质.伪低酸症 (Pseudohypophosphatasia) 是一种疾病.伪瘤大脑综合征 伪瘤大脑综合征皮里多克萨尔5'-酸盐是什么?Rickets Rickets 拉基茨 拉基茨是一个疾病.维生素B ((6)) 的情况.
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