经常出现的氧化酸结石:伪装的罪祸首
Rehna K Rahman1, Binesh Arayullathil2, Vinitha Vijayaraghvan2
1Department of Paediatrics, Aster MIMS Hospital, Calicut, Kerala, 673017, India. drrehnashabeer@gmail.com.
Pediatric nephrology (Berlin, Germany)
|October 16, 2024
概括
先天性糖酶异酶缺乏症 (CSID) 是一种罕见的遗传疾病. 这个案例突出了一个患有CSID的儿童呈现结石,而不是典型的胃肠道问题,强调需要更广泛的诊断考虑.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 先天性糖酶异马酶缺乏症 (CSID) 是一种罕见的自体逆性疾病,影响碳水化合物消化.
- 在儿童早期,CSID通常会出现由于吸收不良而导致的慢性透性腹.
- 虽然高血症和结石是已知的成人并发症,但它们在儿科CSID病例中非常罕见.
研究的目的:
- 报告一个罕见的儿科病例,即先天性糖酶异马酶缺乏症.
- 要突出反复出现的异常呈现的氧化酸结石作为CSID儿童的主要症状.
- 为了强调在儿童患者中考虑CSID的重要性,即便没有明显的胃肠道症状,患有无法解释的结石.
主要方法:
- 一个六岁男孩的案例报告.
- 临床评估侧重于复发性结石.
- 通过遗传分析确定糖酶异马酶缺乏症的诊断证实.
主要成果:
- 这位患者出现了反复出现的氧化酸结晶.
- 在诊断之前没有报告任何显著的胃肠道症状.
- 基因分析证实了先天性糖酶异马酶缺乏症的诊断.
结论:
- 先天性糖酶异酸酶缺乏症可以表现为结石,作为儿童的主要症状.
- 这一案例扩大了CSID在儿科患者中的临床范围.
- 基因检测对于诊断CSID至关重要,特别是在非典型的表现.
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