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一个三岁孩子的持续的甜菜色尿液:一个案例报告
Pauline Harper1, Carl-Johan Törnhage2,3, Eliane Sardh4,5
1Department of Medical Biochemistry and Biophysics, Centre for Inherited Metabolic Diseases, Porphyria Centre Sweden, Karolinska Institutet Karolinska University Hospital Stockholm Sweden.
Clinical case reports
|October 20, 2025
概括
晚期皮质 (PCT) 在儿童中很少见,往往是晚诊断. 早期的怀疑可能来自红色的尿液,特别是与家族病史,帮助及时诊断儿科病例.
科学领域:
- 儿科胃肠病学 儿科胃肠病学
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
背景情况:
- 皮质迟 (PCT) 是一种罕见的儿童疾病.
- 自1987年以来,瑞典形症中心已经诊断出1400例PCT病例,其中儿童只有5例.
- 被诊断的儿童是致病性UROD基因变异的异合体,是血红色素变异的同合体.
研究的目的:
- 突出诊断挑战和儿童PCT的延误.
- 强调考虑非皮肤症状对于早期检测的重要性.
- 呈现案例报告,说明儿童PCT的各种表现.
主要方法:
- 在瑞典波菲利亚中心对儿科PCT病例的回顾性审查.
- 对临床表现,遗传发现和诊断时间表的分析.
- 病例报告 儿童患有PCT的文件.
主要成果:
- 儿科PCT的诊断往往会延迟,即使有皮肤症状.
- 没有皮肤病变的红色尿液在两个案例中引起了怀疑.
- 在某些情况下,家庭病史和母亲识别"甜菜红色"尿液有助于诊断.
结论:
- 儿科PCT诊断需要高度的临床怀疑,特别是如果有家族病史.
- 像尿液变色这样的非皮肤症状可以是关键的早期指标.
- 及时诊断和管理对于患有PCT的儿童至关重要.
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