Key result
Bartter syndrome type III from homozygous CLCNKB mutation manifests uniquely with opisthotonus and hypocalciuria.
Why the study?
Prenatal diagnosis of Bartter syndrome was motivated by the need to identify reliable markers in at-risk pregnancies presenting with early polyhydramnios.
Case Report (n=1)
Supports including opisthotonus and hypocalciuria in Bartter III differentials; leaves open confirmation in larger cohorts.
Bartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at-risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.
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Shalev et al. (1994) conducted a case report in Bartter Syndrome Type III (n=1). CLCNKB gene mutation (p.Arg33*) was evaluated. A 2-month-old male infant with a homozygous CLCNKB gene mutation causing Bartter Syndrome Type III presented with the unique clinical manifestations of opisthotonus and hypocalciuria.
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