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Genetic changes associated with familial hypocalciuric hypercalcemia

In familial hypocalciuric hypercalcemia (FHH) types 1-3, inactivating mutations in CaSR, GNA11, or AP2S1 lead to loss of function of signaling through the CaSR pathway and, therefore, require higher extracellular calcium concentrations (red arrow) to suppress PTH secretion. These germline genetic changes affect all parathyroid cells. (Source: English KA, Lines KE, Thakker RV. Genetics of hereditary forms of primary hyperparathyroidism. Hormones [Athens] 2024;23[1]:3-14. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

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Associated Disorders

  • Acute and chronic renal failure
  • Endocrine disorders
  • Familial hypocalciuric hypercalcemia
  • Granulomatous disorders
  • Infantile hypercalcemia (Williams syndrome)
  • Malignancy
  • Milk-alkali syndrome
  • Primary hyperparathyroidism