Biochemical examination of mother’s urine is useful for prenatal diagnosis of Bartter syndrome

Matsushita, Yuriko; Suzuki, Yukiko; Oya, Naoko; Kajiura, Shoji; Okajima, Kazuki; Uemura, Osamu; Suzumori, Kaoru

doi:10.1002/(sici)1097-0223(199907)19:7<671::aid-pd571>3.0.co;2-o

Cited by 14 publications

(12 citation statements)

References 9 publications

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“…Except for calcium, these values were obviously elevated beyond the normal ranges reported previously [4,5]. Except for calcium, these values were obviously elevated beyond the normal ranges reported previously [4,5].…”

Section: Case Reportcontrasting

confidence: 38%

“…These mutations, however, have not been found in some patients and further genetic heterogenicity is suspected. Urinary chloride, sodium and calcium of the mother who is carrying an affected fetus were reportedly decreased [5]. Elevated chloride in amniotic fluid [9] and aldosterone in amniotic fluid as well as fetal cord blood [4] have been reported in pregnancies with neonatal Bartter syndrome.…”

Section: Discussionmentioning

confidence: 99%

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Neonatal Bartter syndrome with unilateral multicystic dysplastic kidney disease

et al. 2003

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Section: Case Reportcontrasting

confidence: 38%

Section: Discussionmentioning

confidence: 99%

Neonatal Bartter syndrome with unilateral multicystic dysplastic kidney disease

et al. 2003

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“…Strabismus, convulsions, and increased susceptibility to infections are also reported [15, 16]. Urinary electrolytes except potassium in second trimester are low in mother's urine in cases of Bartter syndrome [17]. …”

Section: Clinical Featuresmentioning

confidence: 99%

“…If ABS is strongly suspected, one should do amniocentesis and subject amniotic fluid for biochemical analysis. High chloride in amniotic fluid is a consistent finding and diagnostic of ABS [4, 9, 17]. Other electrolytes in the amniotic fluid will be normal.…”

Section: Laboratory Investigationsmentioning

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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“…Amniocentesis shows high chloride (and aldosterone) levels. Analysis of a pregnant mother's urine may also suggest the diagnosis, demonstrating low Na + , Cl -and Ca 2+ (Matsushita, et al, 1999). A definitive diagnosis may be made using mutational analysis of DNA from amniocytes (Konrad, et al, 1999).…”

Section: Bartter's Syndromementioning

confidence: 99%