婴儿高血症2型的产前表现和早期产后治疗
Marcelien Verjans1, An Hindryckx2, Karen Rosier3
1Department of Paediatric Nephrology, University Hospitals Leuven, Louvain, Belgium.
Pediatric nephrology (Berlin, Germany)
|May 16, 2024
概括
婴儿高血症2型 (IH2) 是一种罕见的遗传性疾病. 早期诊断和治疗,包括补充酸盐和避免维生素D,可以使生物化学参数正常化并预防并发症.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 婴儿高血症 (IH) 是一种罕见的遗传疾病,在婴儿期早期出现.
- 它的特征是高血症,高血症,甲状腺上腺激素的低水平和骨.
- IH类型1和2是由CYP24A1和SLC34A1的双变异引起的.
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