Bartter 综合征 4A，新生儿，伴感音神经性耳聋
基因病名称(英)
Bartter syndrome 4A, neonatal, with sensorineural deafness
基因病名称
Bartter 综合征 4A，新生儿，伴感音神经性耳聋
关键字(英)
Deafness,Bartter syndrome
别名(英)
Bartter syndrome, neonatal, with sensorineural deafness,BSND,Hyperprostanglandin E syndrome 4,Hypokalemic alkalosis with hypercalciuria antenatal 4,Infantile Bartter syndrome with sensorineural deafness,Sensorineural deafness with mild renal dysfunction
别名
Bartter 综合征，新生儿，伴感觉神经性耳聋，BSND，高前列腺素 E 综合征 4，低钾性碱中毒伴产前高钙尿症 4，婴儿 Bartter 综合征伴感觉神经性耳聋，感觉神经性耳聋伴轻度肾功能不全
统计
reviewed:1; annotated:0
交叉引用
602522,C1865270,C2748440,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. BARTS4A is associated with sensorineural deafness.
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。BARTS4A 与感觉神经性耳聋有关。