Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.
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.
Itai
I
Gross
Yael
Y
Siedner-Weintraub
Ari
A
Simckes
David
D
Gillis
D001477:Bartter Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D053565:Hypercalciuria / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006961:Hyperparathyroidism / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007008:Hypokalemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D064466:Solute Carrier Family 12, Member 1 / Q000235:genetics*
C578714:SLC12A1 protein, human; D064466:Solute Carrier Family 12, Member 1