From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. [scielo.conicyt.cl]

Polyuria, hyponatremia, hypokalemia, hyperaldosteronism, and hypercalciuria were initially present. [frontiersin.org]

Antenatal BS is characterized by in utero or neonatal age of presentation, presence of nephrocalcinosis, higher urinary loss of sodium, potassium, and chloride. Classical BS presents at a later age and is milder in course. [indianjnephrol.org]

Growth faltering, dwarfism, polydipsia, and weakness may be present in older children. Mild mental retardation is reported in few patients. [hindawi.com]

Two distinct clinical presentations are described: antenatal form and “classical” form. [nature.com]

• Polyuria

  In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. [scielo.conicyt.cl]

  The typical features include fetal polyuria, early onset maternal polyhydramnios, intrauterine growth restriction, preterm birth, postnatal polyuria, episodes of dehydration, recurrent vomiting, and failure to thrive [3, 4]. [hindawi.com]

  Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. [nature.com]

  The indomethacin therapy has shown to decrease polyuria, renal salt-wasting, hyperprostaglandinuria, hypercalciuria, and nephrocalcinosis. References 1. Landau D, Shalev H, Ohlay M, Carrni R. [indianjnephrol.org]

  One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter’s syndrome. [crc.jussieu.fr]

Clinical Testing and Workup Laboratory tests that are used to diagnose these disorders include blood tests to determine serum electrolyte levels, specifically potassium, chloride, bicarbonate, magnesium, renin, and aldosterone levels and urine tests to [rarediseases.org]

The study was exempt from institutional review board approval because, at the time of prenatal diagnosis, amniotic fluid sampling was part of the routine diagnostic workup. RESULTS Bartter groups are presented in Table 1. [nature.com]

• Hyponatremia

  Hematological investigation shows hyponatremia, hypokalemia, and hypochloremia with metabolic alkalosis; hypercalciuria with nephrocalcinosis also occurs. [indianjnephrol.org]

  Polyuria, hyponatremia, hypokalemia, hyperaldosteronism, and hypercalciuria were initially present. [frontiersin.org]

Standard Therapies Treatment The treatment of the Bartter syndromes is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Caution in such treatment is required as treatment with potassium sparing diuretics may be dangerous in situations of gross salt and water wasting and circulatory volume contraction. Long-term prognosis is guarded. [hindawi.com]

E2 formation, although the safety of long-term treatment with NSAID use, especially in preterm infants, is a subject of controversy. [frontiersin.org]

At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed re quiring a cochlear implant. [scielo.conicyt.cl]

Lastly, ranges of duration for salt supplements or indomethacin treatment were longer in described cases. [cjasn.asnjournals.org]

Long-term prognosis is guarded. Lack of satisfactory control may lead to morbidity, growth failure, and renal insufficiency [2, 18, 23]. 8. Prognosis Untreated ABS patients may succumb to dehydration, dyselectrolytemia, and intercurrent infections. [hindawi.com]

This novel MAGED2 variant has an excellent prognosis, with spontaneous resolution of symptoms in early infancy without the need for lifelong medication or electrolyte replacement. [frontiersin.org]

Twin pregnancies, fetal aneuploidy, oligohydramnios, fetal morphologic abnormalities, and cases with a clear etiology of polyhydramnios (duodenal atresia) were excluded. [nature.com]

Based on pathophysiology and genetics, BS can be classified as [Table 1],[Figure 1]: BS, antenatal, type I, involving defect in NaK 2Cl cotransporter in thick ascending limb (TAL) because of mutation in the SLC12A1 gene on the 15q15-21 chromosome. [4] [indianjnephrol.org]

In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS. 1. [hindawi.com]

Pathophysiology and clinical presentations of salt-losing tubulopathies. Pediatr Nephrol. 2015;[Epub ahead of print]. http://www.ncbi.nlm.nih.gov/pubmed/26178649 Kintu B Brightwell A. Episodic seasonal pseudo-bartter syndrome in cystic fibrosis. [rarediseases.org]

These drugs can prevent the secretion of aldosterone from the adrenal glands and counteract the effects of renin on the kidneys, thereby reducing potassium and acid loss. [rarediseases.org]

Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. [hindawi.com]