A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up

作者：Mingsheng Ma, Mengqi Zhang, Yu Zhou, Fengxia Yao, Min Wei, Zhenghong Li, Zhengqing Qiu · 发表于：BMC Nephrology · 年份：2021 · DOI：10.1186/s12882-021-02553-1 · 被引用次数：12 · 研究领域：Ion Transport and Channel Regulation、Renal and related cancers、Renal Diseases and Glomerulopathies

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 suspected, but these clinical symptoms surprisingly disappeared after about 2 months. This led to the clinical diagnosis of transient antenatal Bartter's syndrome. Gene analysis in this patient disclosed a novel variant (c.1598C > T, p.Ala533Val) in exon 12 of MAGED2 gene, and his mother was a heterozygous carrier. This patient was followed up in clinic for 4 years without recurrence of imbalance of potassium, sodium and chloride. His height and weight were in normal range, and all laboratory examinations and nephrotic ultrasound were also normal. CONCLUSIONS: We reported the first Chinese case of transient antenatal Bartter's syndrome caused by MAGED2 mutation. The 4-year follow-up of our case further demonstrates the benign prognosis of the disease and indicates that early recognition of this phenotype could avoid unnecessary treatments.