塔恩斯-布鲁克斯综合征的延迟诊断伴随着功能衰竭
Muhammed Faruk Ürkmez1, Gizem Kumru2, Şeyda Şahika Mutlu2
1Ankara University School of Medicine, Department of Medical Genetics, Ankara, Turkey.
CEN case reports
|January 7, 2026
概括
斯 - 布鲁克斯综合征 (TBS) 可以呈现出各种症状,有时会延迟诊断. 针对SALL1突变的基因测试对于识别这种罕见疾病至关重要,即使是异常表现.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 儿科脏病学 儿科脏病学
背景情况:
- 斯-布鲁克斯综合征 (TBS) 是一种罕见的自体主导性疾病.
- 它的典型特征是由于SALL1基因突变引起的肠,耳朵和手部形.
- 脏干扰可能导致末期功能衰竭.
研究的目的:
- 介绍一个土耳其家庭的延迟TBS诊断.
- 突出TBS的广泛临床谱,包括非典型的表现.
- 强调基因检测在未诊断的病中的重要性.
主要方法:
- 临床病例的介绍.
- 多基因面板测序. 多基因面板测序.
- 对受影响的家庭成员进行遗传分析.
主要成果:
- 鉴定了一种异构的SALL1变体 (c.2287dup p.R763Kfs*42).
- 试验对象出现了功能衰竭和脚部异常,缺乏经典的三位一体.
- 受影响的家庭成员表现出较温和的表型,具有相同的SALL1变异.
结论:
- 结核病表现出广泛的临床谱,甚至在家庭内.
- 非典型的表现,如孤立的脏异常,可能导致诊断延迟.
- 综合性评估,家族史和遗传检测对于TBS诊断至关重要.
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