Familial Hypocalciuric Hypercalcemia (CASR)

Posted 6 May, 2009 - 23:39 by steve

Familial Hypocalciuric Hypercalcemia (CASR)

Clinical Presentation of FHH
  • autosomal dominant condition
  • mutations in the gene CASR, which codes for the calcium-sensing receptor (CASR)
  • associated with down-regulation of the calcium receptor
  • Patients are characteristically asymptomatic
  • Hypercalcemia
  • Hypocalciuria
  • Normal to high levels of PTH
  • Hypermagnesemia

 

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