What is autosomal-dominant hypocalcemia with hypercalciuria (ADHH)?

Updated: Oct 30, 2020
  • Author: Tibor Fulop, MD, PhD, FACP, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

ADHH is another disorder of urinary magnesium wasting. [36] Affected individuals present with hypocalcemia, hypercalciuria, and polyuria, and about 50% of these patients have hypomagnesemia.

ADHH is produced by mutations of the CASR gene, the gene that encodes for the calcium-sensing receptor (CaSR) located basolaterally in TAL and DCT, which is involved in renal calcium and magnesium reabsorption. [37] Activating mutations shift the set point of the receptor to a level of enhanced sensitivity by increasing the apparent affinity of the mutant receptor for extracellular calcium and magnesium. This results in diminished PTH secretion and decreased reabsorption of divalent cations in the TAL and DCT, which leads to loss of urinary calcium and magnesium. In other cases, a basolateral protein (cyclin M2 protein) mutation has been described. [103]


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