病例报告:患有丹特病1型的11岁男孩早期急性功能衰竭
Nicolette Murphey1, Craig Authement2, Paul Hillman3
1Genetic Counseling Program, University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, United States.
Frontiers in pediatrics
|November 29, 2024
概括
丹特病1型是一种由CLCN5变体引起的遗传性脏疾病. 在一个患有严重病的11岁男孩身上发现了一种新型变异,突出显示了诊断变异性.
科学领域:
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 丹特病1型 (Dent 1) 是一种由CLCN5基因的致病变体引起的X链接遗传疾病.
- 它通常表现为低分子量蛋白尿,高尿,骨和骨,通常导致成年人功能衰竭.
研究的目的:
- 报告在年轻患者中出现严重表型的1型Dent病例.
- 为了确定患有严重病家族病史的患者的遗传原因.
- 强调鉴于症状变异性和早期发病,对丹特病进行遗传检测的重要性.
主要方法:
- 一个11岁男孩患有严重病的临床表现和家庭病史评估.
- 实验室调查,包括尿液分析和估计的淋巴膜过率 (eGFR) 测量.
- 基因检测用于识别CLCN5基因中的致病变体.
主要成果:
- 患者出现了侧侧疼痛,夜间尿泡,泡性尿液,尿频增加,脏范围蛋白尿,并显著降低了EGFR.
- 在这位患者中,高度显著缺席.
- 基因分析揭示了CLCN5:c.791dup (p.Ser265Glnfs*3) 中的一种新型致病变体.
结论:
- 这一病例突出了与新型CLCN5变种相关的1型Dent病的严重早期发病表型.
- 缺少高尿和早期严重呈现突显了丹特病的表型变异性.
- 对Dent病的遗传检测对受影响的个体至关重要,特别是那些有家族病史和非典型表现的人.
关键词:
在CLCN5基因.丹特病1型 (Dent 1) (第1型) 是一种类型的丹特病.慢性脏疾病 慢性脏疾病遗传学 遗传学 遗传学 遗传学 是一个过高性尿症是什么意思功能衰竭 功能衰竭是什么?这种疾病是nephrocalcinosis.蛋白质尿症是一种蛋白质尿症.更多相关视频
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