Which genetic mutations cause autosomal dominant hypocalcemia (ADH)?

Updated: Dec 06, 2018
  • Author: Eleanor Lederer, MD, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Autosomal dominant hypocalcemia (ADH) is caused by mutations in the calcium-sensing receptor gene CASR. ADH is characterized by hypocalcemia and hypoparathyroidism; when accompanied by hypokalemia and metabolic alkalosis, it is classified as type 5 Bartter syndrome. [29] Four activating CASR mutations have been identified in Bartter syndrome type 5. [30]


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