家庭分析和文献研究遗传性低酸性恶性精神病与高度尿
Lufeng Wang1, Gulimire Kulaixi2, Jiazireya Zaiyinati1
1Department of Endocrinology, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.
BMC pediatrics
|February 14, 2024
概括
遗传性低酸血症与高血症 (HHRH) 的病是一种罕见的遗传性疾病. 本案例报告详细介绍了一种独特的HHRH呈现,其中包含SLC34A3和LRP5基因中的新型变异,强调早期诊断以获得更好的结果.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 儿科内分泌学 儿科内分泌学
背景情况:
- 遗传性低酸血症与高血症 (HHRH) 的病是一种罕见的自体逆向性疾病.
- 具有脏酸盐再吸收受损的特征,导致低酸血,恶心和骨疼痛.
研究的目的:
- 提高对HHRH呈现特征的认识.
- 报告一个具有SLC34A3和LRP5基因并发变异的HHRH独特病例.
- 突出准确和早期诊断对于改善患者结果的重要性.
主要方法:
- 一个11岁的女试验员的案例报告,她具有真和矮身.
- 利用高通量测序,包括整个外因组测序,用于变体识别.
- 使用桑格测序确认了致病变体,并根据ACMG指南对它们进行了分类.
主要成果:
- 在试验者及其受影响的姐妹中确定了SLC34A3基因 (c.1402C>T; p.R468W) 的同卵性致病变体.
- 在试验物中检测到LRP5基因 (c.3917C>T; p.A1306V) 中一种罕见的同卵性变异,其意义不明.
- 父母被确定为SLC34A3变种的异构体载体.
结论:
- 本报告描述了HHRH中SLC34A3和LRP5基因变异的新型组合,以自身逆性方式遗传.
- 同时出现的SLC34A3和LRP5变异的临床意义需要进一步调查.
- 准确的诊断和及时的治疗对于管理HHRH和改善预后至关重要.
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