Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome

Takemori, Satoshi; Tanigaki, Shinji; Nozu, Kandai; Yoshihashi, Hiroshi; Uchiumi, Yutaro; Sakaguchi, Kyoko; Tsushima, Kana; Kitamura, Aya; Kobayashi, Chie; Matsuhima, Miho; Tajima, Atsushi; Nagano, China; Kobayashi, Yoichi

doi:10.1016/j.ejmg.2021.104308

Cited by 6 publications

(10 citation statements)

References 17 publications

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“…Given this timing, the initiation of amniotic surveillance at 16-18 weeks appears to be reasonable. Fetal macrosomia has been reported in several cases of MAGED2-related aBS, 5,10,11 including in our case report. While other causes for macrosomia should be considered, this finding together with significant polyhydramnios without clear explanation should increase clinical suspicion for MAGED2-related aBS.…”

Section: Discussionsupporting

confidence: 59%

“…This is especially important due to the confirmed transient nature of the disease with most fetal and neonatal symptoms resolving either prenatally 6 or within 3 months of life. 10,12…”

Section: Discussionmentioning

confidence: 99%

“…Timely, frequent ultrasounds and amnioreductions when clinically indicated can prolong the antenatal period and reduce the risk of premature birth and the associated neonatal morbidity and mortality. This is especially important due to the confirmed transient nature of the disease with most fetal and neonatal symptoms resolving either prenatally 6 or within 3 months of life 10,12 …”

Section: Discussionmentioning

confidence: 99%

“…There are limited but promising data from the available studies on the topic that support the benefit of serial amnioreductions for reducing fetal mortality through preventing prematurity or prolonging time in utero. 5,6,[10][11][12] The aim of this paper is to report the case of an individual with MAGED2-related aBS treated with amnioreductions and to systematically review the current literature on the management and outcomes of this rare and severe form of aBS.…”

Section: Introductionmentioning

confidence: 99%

“…Given the severe nature of polyhydramnios in MAGED2 ‐related aBS, the optimal management for this case remains uncertain. There are limited but promising data from the available studies on the topic that support the benefit of serial amnioreductions for reducing fetal mortality through preventing prematurity or prolonging time in utero 5,6,10–12 …”

Section: Introductionmentioning

confidence: 99%

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Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy

Walsh,

Micke,

Elfman

et al. 2023

Prenatal Diagnosis

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A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the X‐linked MAGED2 variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild‐to‐moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25 weeks with fetal demise. Whole exome sequencing of the amniotic fluid sample resulted after the pregnancy loss and revealed a c.1337G>A MAGED2 variant that was considered diagnostically. The subsequent pregnancy was confirmed by chorionic villi sampling to also be affected by this variant. The pregnancy was managed with frequent ultrasounds and three amnioreductions that resulted in spontaneous vaginal delivery at 37 weeks and 6 days of a viable newborn with no evidence of overt electrolyte abnormalities suggesting complete resolution. A detailed review of the published cases of MAGED2‐related transient aBS is provided. Our review focuses on individuals who received antenatal treatment. A total of 31 unique cases of MAGED2‐related transient aBS were compiled. Amnioreduction was performed in 23 cases and in 18 cases no amnioreduction was performed. The average gestational age at delivery was significantly lower in cases without serial amnioreduction (28.7 vs. 30.71 weeks, p = 0.03). Neonatal mortality was seen in 5/18 cases without serial amnioreduction, and no mortality was observed in the cases with serial amnioreduction. In cases of second trimester severe polyhydramnios without identifiable cause, whole exome sequencing should be considered. Intensive ultrasound surveillance and serial amnioreduction is recommended for the management of MAGED2‐related transient aBS.

show abstract

Section: Discussionsupporting

confidence: 59%

“…This is especially important due to the confirmed transient nature of the disease with most fetal and neonatal symptoms resolving either prenatally 6 or within 3 months of life. 10,12…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy

Walsh,

Micke,

Elfman

et al. 2023

Prenatal Diagnosis

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ClC-K Kidney Chloride Channels: From Structure to Pathology

Andrini

Eladari

Picard

2023

Handbook of Experimental Pharmacology

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Bartter syndrome in a female infant: A rare case report from Syria

Hanifa,

Ataya,

Abu-Naja

et al. 2024

SAGE Open Medical Case Reports

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Antenatal Bartter syndrome is a rare condition that affects approximately 1.2 individuals per million. It is caused by renal tubular dysfunction that impairs the reabsorption of sodium and chloride. This results in various symptoms such as polyuria, vomiting, dehydration, and failure to thrive. Because of its low prevalence, diagnosing this disorder can be challenging for medical professionals. In this report, we describe a rare case of a 3-month-old female infant who had symptoms of Bartter syndrome, such as severe hypotension, facial flattening, cough, and seizures. She also had the typical features of the condition, except for prematurity and hypercalciuria, which were not present. In this case, we highlight the importance of regular follow-ups and monitoring of patients with dehydration and electrolyte imbalances, as these can lead to complications in Bartter syndrome. Early intervention and close monitoring can enhance patient outcomes and avoid complications.

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Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome

Cited by 6 publications

References 17 publications

Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy

Successful antenatal treatment of MAGED2‐related Bartter syndrome and review of treatment options and efficacy

ClC-K Kidney Chloride Channels: From Structure to Pathology

Bartter syndrome in a female infant: A rare case report from Syria

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