由于DNAJB11病原体变异而导致的非典型ADPKD:一个教育案例报告
Jessica Kachmar1, Zaki El-Haffaf2, Guillaume Bollée1
1Division of Nephrology, Department of Medicine, Centre Hospitalier de l'Université de Montréal, QC, Canada.
Canadian journal of kidney health and disease
|October 23, 2023
概括
DNAJB11中的遗传变异会导致非典型的自体主导多囊性病 (ADPKD). 识别这些罕见病例对于准确诊断和治疗渐进性病至关重要.
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.
- 分子生物学分子生物学
背景情况:
- 下一代测序识别了像DNAJB11这样的新基因,导致非典型的自体主导性多囊性病 (ADPKD).
- 遗传变异显著影响ADPKD的严重程度,需要详细的表型描述.
研究的目的:
- 描述因DNAJB11变异而导致非典型ADPKD患者的临床表现和遗传发现.
- 提高临床医师对ADPKD罕见遗传原因及其独特表型的认识.
主要方法:
- 一名患有非典型ADPKD症状的患者接受了下一代测序.
- 基因分析包括DNAJB11,PKD1和PKD2等基因.
- 在DNAJB11基因 (c.123 dup) 中确定了一种可能的致病性异质合体变异.
主要成果:
- 患者出现了慢慢恶化的功能,蛋白尿和缩的脏与小囊,不典型的典型ADPKD.
- 鉴定的DNAJB11变种 (p.Lys42*) 被归类为可能致病的.
- 尽管接受了坎德沙坦治疗,蛋白尿症增加,功能继续下降.
结论:
- DNAJB11变种代表了非典型ADPKD的罕见原因,经常呈现小囊和进展性病.
- 区分DNAJB11相关ADPKD的临床特征包括小囊,正常的脏大小 (尽管在这种情况下是扩大的),蛋白尿,并与自身主导的管间脏病 (ADTKD) 重叠.
- 对于具有非典型ADPKD特征的患者,建议进行基因检测,以提高诊断准确性和临床意识.
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