Prenatal Diagnosis of Bartter Syndrome with Biochemical Examination of Amniotic Fluid: Case Report

Dane, Banu; Yayla, Murat; Dane, Cem; Çetin, Ahmet

doi:10.1159/000098719

Cited by 17 publications

(13 citation statements)

References 16 publications

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“…However, after 1–3 weeks, level of potassium considerably rises above normal with relatively less sodium than in the first week of life. Prostaglandin levels are high in blood and urine as a secondary phenomenon [5, 6, 9, 13]. Impaired sodium absorption in TALH will result in increased levels of prostaglandin E 2 [13, 14].…”

Section: Clinical Featuresmentioning

confidence: 99%

Antenatal Bartter Syndrome: A Review

Bhat

Vinayaka

Sreelakshmi

2012

International Journal of Pediatrics

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Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

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Section: Clinical Featuresmentioning

confidence: 99%

Antenatal Bartter Syndrome: A Review

Bhat

Vinayaka

Sreelakshmi

2012

International Journal of Pediatrics

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“…High chloride levels in the amniotic fluid is the constant finding. 5,6,9,10 In this case the polyhydramnios was diagnosed at 22 weeks of gestation. There was no identifiable cause for the persistent and increasing polyhydramnios and so amniotic fluid analysis was performed.…”

Section: Discussionmentioning

confidence: 82%

“…A high chloride level in the amniotic fluid is usually diagnostic. 1,5 Failure to thrive, polyuria, episodes of dehydration, hypercalciuria and nephrocalcinosis characterise the postnatal course. 1,2,6 A case is presented in which amniotic fluid analysis in a woman with idiopathic polyhydramnios led to the diagnosis of Bartter syndrome.…”

Section: Introductionmentioning

confidence: 99%

Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios

Bhat

Vinayaka

Vani

et al. 2011

Annals of Tropical Paediatrics

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A woman presented with polyhydramnios at 22 weeks of gestation with a structurally normal fetus and placenta. Biochemical analysis of amniotic fluid detected a very high level of chloride (582 mmol/L), which led to the diagnosis of Bartter syndrome. With serial amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks. Neonatal and subsequent investigations further supported the diagnosis of Bartter syndrome. The infant was well at birth and now, at 5 months of age, is gaining weight normally on indomethacin.

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“…Típicamente debuta con una marcada poliuria fetal que se traduce en un severo polihidramnios, generalmente entre las semanas 24 y 30 de gestación, que suele precisar de amniodrenajes. La elevación de cloro en el líquido amniótico es una constante en estos casos [3][4][5] .…”

Section: Discussionunclassified