Article
A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.
BMC nephrology - 11 Dec 2021
Ma Mingsheng, Zhang Mengqi, Zhou Yu, Yao Fengxia, Wei Min, Li Zhenghong, Qiu Zhengqing
Abstract excerpt
BACKGROUND: Transient antenatal Bartter's syndrome caused by MAGED2 mutation is a rare X-linked recessive renal tubular disorder. Cases reported are mostly infants, and the long-term prognosis of the disease is still under investigation. CASE PRESENTATION: We encountered a preterm male infant with polyhydramnios, polyuria, salt loss, hypercalciuria, nephrocalcinosis and alkalosis. Antenatal Bartter's syndrome was...
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