A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

Eugenio Mastromatteo, Olga Lamacchia, Michela R. Campo, Antonella Conserva, Filomena Baorda, Luigia Cinque, Vito Guarnieri, Alfredo Scillitani, Mauro Cignarelli

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Abstract

Background: Familial Hyperparathyroidism (HPT) and Familial benign Hypocalciuric Hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia. FHH has been demonstrated to be caused by inactivating mutations of calcium-sensing receptor (CaSR) gene, involved in PTH regulation as well as in renal calcium excretion.Case presentation: In two individuals, father and son, we found a novel heterozygous mutation in CaSR gene. The hypercalcemia was present only in father, which, by contrast to the classic form of FHH showed hypercalciuria (from 300 to 600 mg/24 h in different evaluations) and a Calcium/Creatinine ratio of 0.031, instead of low or normal calciuria (

Original languageEnglish
Article number81
JournalBMC Endocrine Disorders
Volume14
Issue number1
DOIs
Publication statusPublished - Oct 7 2014

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Keywords

  • CaSR gene
  • FHH
  • Hypercalcemia
  • Hypercalciuria
  • Hyperparathyroidism
  • Hypocalciuria

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

Cite this

Mastromatteo, E., Lamacchia, O., Campo, M. R., Conserva, A., Baorda, F., Cinque, L., Guarnieri, V., Scillitani, A., & Cignarelli, M. (2014). A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. BMC Endocrine Disorders, 14(1), [81]. https://doi.org/10.1186/1472-6823-14-81