Abstract
Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.
MeSH terms
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Bartter Syndrome / complications
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Bartter Syndrome / diagnosis*
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Bartter Syndrome / genetics
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Diagnosis, Differential
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Humans
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Hypercalciuria / complications
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Hypercalciuria / diagnosis*
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Hypercalciuria / genetics
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Hyperparathyroidism / complications
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Hyperparathyroidism / diagnosis*
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Hyperparathyroidism / genetics
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Hypokalemia / complications
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Hypokalemia / diagnosis*
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Hypokalemia / genetics
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Infant
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Male
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Mutation / genetics*
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Phenotype
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Prognosis
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Solute Carrier Family 12, Member 1 / genetics*
Substances
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SLC12A1 protein, human
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Solute Carrier Family 12, Member 1