Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):943-6. doi: 10.1515/jpem-2014-0188.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bartter Syndrome / complications
  • Bartter Syndrome / diagnosis*
  • Bartter Syndrome / genetics
  • Diagnosis, Differential
  • Humans
  • Hypercalciuria / complications
  • Hypercalciuria / diagnosis*
  • Hypercalciuria / genetics
  • Hyperparathyroidism / complications
  • Hyperparathyroidism / diagnosis*
  • Hyperparathyroidism / genetics
  • Hypokalemia / complications
  • Hypokalemia / diagnosis*
  • Hypokalemia / genetics
  • Infant
  • Male
  • Mutation / genetics*
  • Phenotype
  • Prognosis
  • Solute Carrier Family 12, Member 1 / genetics*

Substances

  • SLC12A1 protein, human
  • Solute Carrier Family 12, Member 1