Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene
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We describe the clinical and genetic findings in pedigree with a novel mutation in the calcium sensing receptor (CaSR) gene and the unusual coexistence of primary hyperparathyroidism (HPT) and familial hypocalciuric hypercalcaemia (FHH) and its clinical management. The occurrence of both FHH and primary HPT in the same patient has been described rarely. Our pedigree has a novel mutation in the CaSR gene. Parathyroidectomy led to a reduction, but not normalization of the calcium levels in the patient identified as having HPT. The coexistence of HPT and FHH was considered in this patient as her calcium and PTH levels were rising with time. Surgical resection of her parathyroid adenoma resulted in reduction of her calcium levels to above normal and significant reduction in her symptoms of fatigue and low mood.
KeywordsCalcium Hyperparathyroidism Hypocalciuria
We are indebted to Professor A. Lienhardt and Dr. Corinne Magdelaine from the Laboratoire de Biochemie et Genetique de l’Hopital Universitaire Dupytren de Limoges (France) and Dr. Anneke Seller from the Oxford Genetics Laboratories (England) who carried out the sequencing of the CaSR gene.
Conflict of interest
All authors have no conflicts of interest.
- 4.D’Souza-Li L, Yang B, Canaff L, Vai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DEC, Hendy GN (2002) Identification and functional characterisation of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia and autosomal dominant hypocalcaemia. J Clin Endocrinol Metab 87:1309–1318PubMedCrossRefGoogle Scholar
- 11.Bilezikan JP, Khan AA, Potts JT Jr, on behalf of the Third International Workshop on the Management of Asymptomatic Primary Hyperparathyroidism (2009) Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the Third International Workshop. J Clin Endocrinol Metab 94:335–339CrossRefGoogle Scholar
- 15.Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J (2000) Familial hypercalcaemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 85:2042–2047PubMedCrossRefGoogle Scholar