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Case Reports
. 2023 Feb 2:10:1093268.
doi: 10.3389/fped.2022.1093268. eCollection 2022.

Case Report: Transient antenatal bartter syndrome in an extremely preterm infant with a novel MAGED2 variant

Hongyuan Yang  1 , Zhiyong Liu  1 , Yaying Wu  2 , Jinglin Xu  1 , Ying He  1 , Ruiquan Wang  1 , Weifeng Zhang  1 , Dongmei Chen  1
Affiliations
Case Reports

Case Report: Transient antenatal bartter syndrome in an extremely preterm infant with a novel MAGED2 variant

Hongyuan Yang et al. Front Pediatr. .

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.

Keywords: MAGED2; acute kidney injury; antenatal bartter's syndrome; extremely preterm infant; transient haematuria.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Pedigree of the family. The arrow denotes the proband and the hollow symbols represent the unaffected members and add a little to the hollow symbols represent the carrier.
Figure 2
Figure 2
The changes in the amniotic fluid index during pregnancy for the patient with an MAGED2 variant during pregnancy. (The normal range of amniotic fluid index is 8–25 cm, as shown in the shaded area).
Figure 3
Figure 3
whole-exome sequencing showed c.1426C > T:p.Arg476X of the MAGED2 (NM_014599) variant in the fetus; his mother and eldest sister carried the variant in the heterozygous state.
See this image and copyright information in PMC

References

    1. Bhat YR, Vinayaka G, Sreelakshmi K. Antenatal bartter syndrome: a review. Int J Pediatr (2012) 2012:857136. 10.1155/2012/857136 - DOI - PMC - PubMed
    1. Seyberth HW, Rascher W, Schweer H, Kühl PG, Mehls O, Schärer K. Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from bartter syndrome. J Pediatr. (1985) 107(5):694–701. 10.1016/S0022-3476(85)80395-4 - DOI - PubMed
    1. Laghmani K, Beck BB, Yang S-S, Seaayfan E, Wenzel A, Reusch B, et al. Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations. N Engl J Med. (2016) 374(19):1853–63. 10.1056/NEJMoa1507629 - DOI - PubMed
    1. Konrad M, Nijenhuis T, Ariceta G, Thomas AB, Calo LA, Capasso G, et al. Diagnosis and management of bartter syndrome: executive summary of the consensus and recommendations from the European rare kidney disease reference network working group for tubular disorders. Kidney Int. (2021) 99(2):324–35. 10.1016/j.kint.2020.10.035 - DOI - PubMed
    1. Seaayfan E, Nasrah S, Quell L, Kleim M, Weber S, Meyer H, et al. MAGED2 Is required under hypoxia for cAMP signaling by inhibiting MDM2-dependent endocytosis of G-alpha-S. Cells. (2022) 11(16):2546. 10.3390/cells11162546 - DOI - PMC - PubMed

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