Bartter 综合征 2，产前
基因病名称(英)
Bartter syndrome 2, antenatal
别名(英)
aBS2,Antenatal Bartter syndrome 2,Bartter syndrome 2,BS2,Hyperprostanglandin E syndrome 2,Hypokalemic alkalosis with hypercalciuria antenatal 2
别名
aBS2，产前 Bartter 综合征 2，Bartter 综合征 2，BS2，高前列腺素 E 综合征 2，低钾性碱中毒伴产前高钙尿症 2
统计
reviewed:1; annotated:0
交叉引用
241200,C1855849,D001477
描述(英)
A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
描述
Bartter 综合征的一种形式，一种常染色体隐性遗传疾病，其特征是在 Henle 粗升袢中盐重吸收受损，伴有明显的盐消耗、低钾代谢性碱中毒和不同程度的高钙尿症。BARTS2 是一种在子宫内开始的危及生命的疾病，伴有明显的胎儿多尿症，导致羊水过多和早产。另一个标志是显着的高钙尿症，以及作为次要后果的肾钙质沉着症和骨质减少症的发展。