[儿童希佩尔-林道综合征的临床前诊断]
O A Malievskiy1, R I Malievskaya1, V A Malievskiy1
1Bashkir State Medical University.
Problemy endokrinologii
|March 4, 2024
概括
一名患有希佩尔-林道综合征家族病史的5个月大的孩子对VHL基因变异检测呈阳性. 尽管有遗传发现,但孩子在检查时没有表现出任何临床症状或异常.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 在瘤学瘤学.
背景情况:
- ·希佩尔-林道综合征 (VHL) 是一种罕见的遗传疾病.
- 它使个体易患各种瘤和囊.
- 家庭病史是基因查的一个关键指标.
研究的目的:
- 描述一个5个月大的婴儿患有VHL综合征的病例.
- 在一个无症状的孩子和受影响的家庭成员中调查VHL的遗传基础.
- 建立一个潜在的VHL表现的监测计划.
主要方法:
- 对VHL基因进行分子遗传测试.
- 临床检查与VHL相关的病理.
- 实验室测试,包括甲基氨酸/诺米氨酸水平.
- 影像研究,如腹部超声波.
- 对 fundus 的眼科检查.
主要成果:
- 鉴定了一种异构的VHL基因变异 (c.355T>C p.F119L).
- 孩子在5个月大时没有出现VHL综合征的临床或实验室症状.
- 综合查测试对与VHL相关的异常呈阴性.
结论:
- 对VHL综合征的遗传倾向并不总是与即时的临床表现相关.
- 在具有家族病史的无症状个体中,早期的分子诊断至关重要.
- 长期监测对于及时检测和管理VHL综合征至关重要.
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