婴儿神经结症与慢性腹
Rehna K Rahman1, Vinitha Vijaya Raghavan2, Divya Pachat2
1Department of Pediatrics, Aster MIMS (Malabar Institute of Medical Sciences), Calicut, Kerala, India, 673016. drrehnashabeer@gmail.com.
Pediatric nephrology (Berlin, Germany)
|December 2, 2024
概括
一种导致先天性乳糖酶缺乏症的遗传变异导致婴儿的肠道高氧化尿. 饮食中的乳糖限制改善了高氧化尿,这表明乳糖缺乏和这种情况之间存在联系.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
- 胃肠病学 胃肠病学
背景情况:
- 乳腺癌和高氧化尿可以在婴儿中出现,有时与遗传因素有关.
- 先天性乳糖缺乏症 (CLD) 是一种罕见的疾病,影响乳糖消化.
- 过热和过氧可以导致结石的形成和损伤.
研究的目的:
- 为了调查婴儿肺结核病,高性尿和高氧性尿的潜在原因.
- 为了确定观察到的代谢障碍的遗传基础.
- 评估饮食干预对临床症状和生化标志物的影响.
主要方法:
- 一个3个月大的婴儿有相关症状的临床病例呈现.
- 生物化学分析包括尿液和便研究.
- 整体外基因组测序 (WES) 用于遗传变体识别.
- 饮食干预与乳糖限制和结果的监测.
主要成果:
- 婴儿出现了失尿症,出血症,慢性腹,高血症和骨.
- 便分析显示,减少糖,和症状改善与乳糖限制.
- 整体外基因组测序确定了LCT基因 (CLD) 中的一种同变异和ADCY10 (吸收性超性病) 中的一种异变异.
- 过氧沙流症随着饮食改变而消失,而过热症则持续存在.
结论:
- 这些发现表明,由于先天性乳糖酶缺乏症而导致的肠道高氧化现象型是次要的.
- 在LCT和ADCY10中的遗传变异有助于复杂的呈现.
- 饮食管理对于解决患有影响营养吸收的遗传疾病的婴儿代谢障碍至关重要.
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