Bartter syndrome in a neonate: early treatment with indomethacin

Abstract

The neonatal form of Bartter syndrome is characterized by intrauterine onset of polyuria leading to severe polyhydramnios. We report a patient with the early onset of the syndrome and a similar history in a previous sibling who died in early neonatal life. The patient is a female product of 33 weeks of gestation complicated by severe polyhydramnios. Her birth weight was 2,100 g. Polyuria led to severe dehydration on the 3rd day of life. Laboratory studies showed hypokalemia, hyponatremia, and elevated plasma levels of renin and aldosterone. Hypercalciuria was associated with echographic evidence of nephrocalcinosis. Indomethacin therapy resulted in a significant reduction in urine volume and correction of biochemical abnormalities. Growth and development are satisfactory after 4 years of indomethacin therapy, but nephrocalcinosis remains unchanged.

Successful management of an extreme example of neonatal hyperprostaglandin-E syndrome (Bartter???s syndrome) with the new cyclooxygenase-2 inhibitor rofecoxib

“…However, it does not correct the primary chloride resorption defect or improve the urinary concentration defect because indomethacin does not affect the ion channels (2,10,11,13,14). Normal growth and development is feasible for most patients treated with regular indomethacin therapy (12,14,(17)(18)(19)(20)(21)(22)(23).…”

Antenatal bartter syndrome caused by a novel homozygous mutation in SLC12A1 Gene

“…[14] Nephrocalcinosis can occur despite indomethacin treatment, whereas resolution of nephrocalcinosis can be seen during receiving indomethacin. [1516] Medullary nephrocalcinosis was detected at the fifth month of age in our case despite indomethacin treatment.…”

Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians

“…When they are disrupted, the physiological abnormalities lead to an early phenotype, usually with manifestations appearing during the prenatal stage [ 54 ]. The main consequences of its dysfunction in the embryonic stage includes electrolyte imbalances that can cause polyuria due to isosthenuria, polyhydramnios, preterm birth [ 55 ] as well as subsequent growth retardation, serious episodes of salt loss, hypercalciuria and metabolic alkalosis with hypokalemia and hypochloremia [ 54 ]. Although type 1 and type 2 share most of these symptoms, the appearance of episodes of early transient hyperkalemia is seen mostly in type 2 [ 56 ].…”