PDF(Pubmed)
Abstract：
Variants in the MAGED2 may cause antenatal transient Bartter syndrome, which is characterised by polyhydramnios, preterm labour, postnatal polyuria, hypokalaemia and metabolic alkalosis. Transient gross hematuria and acute kidney injury in such cases have not been reported previously. The patient, a boy, was born at a gestational age of 27 + 5 weeks. Polyhydramnios has been detected at 24 weeks of gestation. Polyuria, hyponatraemia, hypokalaemia, weight loss, transient hematuria and acute kidney injury occur after birth. The urinary ultrasonography showed no abnormality, and after a month of treatment with liquid electrolytes and nutritional management, the clinical symptoms improved. Whole-exome sequencing revealed a variant in MAGED2: c.1426C > T, p.Arg476X, inherited from the mother, who was healthy. During the 1-year follow-up, the child grew and developed with normal renal function and electrolyte levels. This is the first report of transient antenatal Bartter syndrome caused by a MAGED2 variant in China in an extremely preterm infant who exhibited previously unreported symptoms: transient hematuria and acute kidney injury. This newly found variant expands the spectrum of genetic variants associated with antenatal Bartter syndrome; it can be detected by early genetic testing and overmedication, thereby avoided.
摘要：
MAGED2的变异可能会导致产前短暂的Bartter综合征，以羊水过多为特征，早产,产后多尿,低钾血症和代谢性碱中毒。在这种情况下，短暂的肉眼血尿和急性肾损伤以前没有报道。病人,一个男孩,出生在27+5周的胎龄。妊娠24周时发现羊水过多。多尿,低钠血症,低钾血症,减肥,出生后发生短暂性血尿和急性肾损伤。尿超声检查未见异常,在用液体电解质和营养管理治疗一个月后，临床症状改善。全外显子组测序显示MAGED2中的一个变体：c.1426C>T，p.Arg476X,从母亲那里继承下来，谁是健康的。在为期一年的随访中，患儿在肾功能和电解质水平正常的情况下生长发育。这是在中国，由MAGED2变体引起的短暂性产前Bartter综合征的首次报道，该婴儿表现出以前未报告的症状：短暂性血尿和急性肾损伤。这种新发现的变异扩大了与产前巴特综合征相关的遗传变异的范围；它可以通过早期基因检测和过度用药来检测，从而避免。
