ArticleBMC nephrology2021
A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.
Article in BMC nephrology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 11 citations in OpenAlex.
- Identification of Three NovelGenes · 2026Review
- Complexities of Bartter Syndrome Type III: A Case Study in Jordan.Oxford medical case reports · 2025Article
- Review
- Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.BMC medical genomics · 2024Article
- ClC-K Kidney Chloride Channels: From Structure to Pathology.Handbook of experimental pharmacology · 2024Article
- Bartter syndrome in a female infant: A rare case report from Syria.SAGE open medical case reports · 2024Article
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7 authors at 2 institutions in 1 country.
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Abstract
backgroundTransient 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.
conclusionsWe 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.
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