Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome - A Family Report.

Shira LondonMichael A LevineDong LiRonen SpiegelAsaf LebelRephael HalevyYardena Tenenbaum Rakover

Published in: The Journal of clinical endocrinology and metabolism (2021)

This report expands the clinical spectrum associated with KCNJ1 mutations and emphasizes the role of WES in unsolved cases of hypocalcemia when genetic disease is suspected. It also highlights the hazardous effects of phosphate-containing soft drinks on calcium metabolism.

Keyphrases

case report
pulmonary embolism
genome wide
copy number
dna methylation