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短暂性产前巴特氏综合征和 X 连锁多尿症:罕见病遗传学的启示。

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition.

机构信息

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA.

出版信息

Kidney Int. 2016 Oct;90(4):721-3. doi: 10.1016/j.kint.2016.07.031.

Abstract

The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.

摘要

MAGED2 基因突变导致一种罕见且短暂的产前巴特氏综合征,这一发现的意义可能超出了受影响的少数家庭。了解这种严重形式的巴特氏综合征在出生后如何缓解的机制,也可能为肾小管转运的调节和组织缺氧反应提供新的见解。

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