丹特病1 早期出现,与巴特氏综合症相似的特征和病:病例报告
Cahyani Gita Ambarsari1,2,3, Habibah Azzahra Putri Agianda4, Meilania Saraswati5
1School of Medicine University of Nottingham, Nottingham, UK.
Case reports in nephrology and dialysis
|August 29, 2025
概括
丹特病是一种罕见的遗传性疾病,导致脏问题. 对于及时诊断和治疗,特别是在患有恶心病和蛋白尿症的儿童中,早期识别DD至关重要.
科学领域:
- 肝脏病学
- 遗传学
- 儿童医学
背景情况:
- 丹特病 (DD) 的特征是低分子量蛋白尿,高尿和结核病/结石病.
- 即使在资源丰富的环境中,表型的变化和稀有性也会延迟诊断.
- 由于实验室的局限性,低资源国家面临额外的诊断挑战.
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