A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome

Nam, Gina; Cho, Angela; Park, Mi-Hye

doi:10.3390/medicina57030272

Cited by 5 publications

(8 citation statements)

References 17 publications

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“…The classic form presents in childhood with failure to thrive and electrolyte imbalances. 5 There are five subtypes of Bartter syndrome, based on the mutant gene involved. Types I and II, are caused by mutations in the SLC12A2 gene and KCNJ1 gene, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…Type III is less severe than types I and II, it presents later in life, and it is associated with mutation in the CLCNKB gene. 5 Type IV is associated with mutations in the BSND gene, causing severe renal tubular dysfunction and sensorineural deafness. The BSND gene encodes the protein barttin, an essential β subunit for these chloride channels.…”

Section: Discussionmentioning

confidence: 99%

“…Type V is associated with a gain-offunction mutation in the CASR gene, resulting in hypocalcemia and hypomagnesemia. 5 Types I and II are typically present antenatally while type IV may present rarely as antenatal Bartter syndrome. 6 Diagnosis of antenatal Bartter syndrome is important because it allows the early initiation of appropriate therapy.…”

Section: Discussionmentioning

confidence: 99%

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An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature

et al. 2023

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Bartter syndrome is a group of autosomal recessive renal tubular disorders; it has two types of presentation: antenatal and classic. The antenatal type presents as severe unexplained polyhydramnios in the second trimester. This is due to fetal urinary losses of sodium, chloride, and potassium, leading to fetal polyuria. The classic type presents in the late neonatal or infancy stage, with dehydration, dyselectrolytemia, failure to thrive, and nephrocalcinosis. Antenatal scans are normal in such cases. Type I and II Bartter syndrome presents in the antenatal period, whereas type IV has a classic presentation. We describe an unusual case of type IVa Bartter syndrome presenting in the antenatal period, with severe polyhydramnios. The initial diagnosis was made based on amniotic fluid chloride levels and later confirmed by performing a genetic test. Genetic testing is important for confirming diagnosis and prognostication regarding the condition.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature

et al. 2023

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“…The association with renal tubular disorder was expressed as serum electrolyte imbalance and polyuria but with a good prognosis after hydroelectrolytic balancing [ 23 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

Transient Polyhydramnios during Pregnancy Complicated with Gestational Diabetes Mellitus: Case Report and Systematic Review

Preda

Ștefan²,

Preda

et al. 2022

Diagnostics

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Polyhydramnios is an obstetrical condition defined as a pathological increase in the amniotic fluid and is associated with a high risk of maternal-fetal complications. Common causes of polyhydramnios include fetal anatomical and genetic abnormalities, gestational diabetes mellitus, and fetal viral infections. We present the case of a 30-year-old Caucasian woman with transient polyhydramnios associated with gestational diabetes mellitus and obstetric complications. The diagnosis was based on the ultrasound assessment of amniotic fluid volume during a common examination at 26 weeks. Two weeks prior, the patient had been diagnosed with gestational diabetes mellitus. After 4 days, the patient was examined, and the amniotic fluid index returned to normal values. At 38 weeks, the patient presented to the emergency room due to lack of fetal active movement. Ultrasound revealed polyhydramnios, the patient was admitted for severe fetal bradycardia, and fetal extraction through emergency cesarian section was performed. Six weeks after birth, the patient underwent an oral glucose tolerance test with normal values, confirming gestational diabetes mellitus. We performed a systematic review of the literature on polyhydramnios, from January 2016 to April 2022, to analyze all recent published cases and identify the most common etiological causes and important aspects related to maternal-fetal outcomes.

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“…Amniocentesis has been used with other causes of polyhydramnios and with idiopathic polyhydramnios. It was also reported to be used in combination with indomethacin in a few cases of BS ( 23 ). Due to this patient's history raising a high suspicion of the diagnosis of BS, the use of indomethacin was preferred.…”

Section: Discussionmentioning

confidence: 99%

Balancing Benefits and Risks of Indomethacin in the Management of Antenatal Bartter Syndrome: A Case Report

et al. 2022

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BackgroundBartter syndrome, a very rare inherited renal tubular disorder, characterized by urinary salt wastage, hypokalemia, polyuria, and metabolic alkalosis, may manifest antenatally as severe isolated polyhydramnios. Indomethacin is known to reduce salt wastage and subsequent polyhydramnios during pregnancy; however, it reduces the Ductus Arteriosus diameter among other potential complications, such as inhibition of gastrointestinal perfusion and increasing the risk of renal toxicity.CaseA 36-year-old multigravida presented with severe isolated polyhydramnios at 30 weeks of gestation. Based on a history of a previous pregnancy affected with Bartter syndrome, indomethacin was initiated. Amniotic fluid volume and Ductus Arteriosus diameter were monitored. As evidence lacks on optimal dose and duration of indomethacin, multiple-dose adjustments were made to reduce the amniotic fluid volume while maintaining normal Ductus Arteriosus diameter. Progressive polyhydramnios led to Cesarean section at 34+ weeks of gestation resulting in a healthy fetus diagnosed with Bartter syndrome in the early neonatal period.ConclusionWe share our experience in the adjustment of the dose and duration of Indomethacin therapy in the treatment of severe polyhydramnios associated with antenatal Bartter syndrome. Amniotic fluid index, Ductus Arteriosus diameter, and umbilical artery doppler work together as key indicators to guide the success and safety of the therapy.

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A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome

Cited by 5 publications

References 17 publications

An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature

An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature

Transient Polyhydramnios during Pregnancy Complicated with Gestational Diabetes Mellitus: Case Report and Systematic Review

Balancing Benefits and Risks of Indomethacin in the Management of Antenatal Bartter Syndrome: A Case Report

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