A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline casr gene mutation

Asian Journal of Surgery

Volumn 32, Issue 2, 2009, Pages 118-122

  Yabuta, Tomonori ^a   Miyauchi, Akira ^a   Inoue, Hiroyuki ^a   Yoshida, Hiroshi ^a   Hirokawa, Mitsuyoshi ^a   Amino, Nobuyuki ^a  

^a KUMA HOSPITAL   (Japan)

Author keywords

Calcium sensing receptor; Familial hypocalciuric hypercalcemia; Papillary thyroid carcinoma; Primary hyperparathyroidism

Indexed keywords

EID: 67650103185     PISSN: 10159584     EISSN: 02193108     Source Type: Journal    
DOI: 10.1016/S1015-9584(09)60022-1     Document Type: Article

References (12)

1. Paterson CR, Gunn A. Familial benign hypercalcaemia. Lancet 1981;2:61-3.
2. Law WM Jr, Heath H 3rd. Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families. Ann Intern Med 1985;102:511-9.
3. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75:1297-303.
4. Hendy GN, D'Souza-Li L, Yang B, et al. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2000;16:281-96.
5. Heath H 3rd, Jackson CE, Otterud B, et al. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet 1993;53:193-200.
6. Lloyd SE, Pannett AA, Dixon PH, et al. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19ql3. Am J Hum Genet 1999;64:189-95.
7. Burski K, Torjussen B, Paulsen AQ, et al. Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? J Clin Endocrinol Metab 2002;87:1015-6.
8. Heath H 3rd, Odelberg S, Jackson CE, et al. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 1996;81: 1312-7.
9. Thorgeirsson U, Costa J, Marx SJ. The parathyroid glands in familial hypocalciuric hypercalcemia. Hum Pathol 1981;12: 229-37.
10. ]10. Carling T, Szabo E, Bai M, et al. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 2000;85: 2042-7.
11. Duh QY, Morris RC, Arnaud CD, et al. Decrease in serum uric acid level following parathyroidectomy in patients with primary hyperparathyroidism. World J Surg 1986;10:729-36.
12. Brown EM. The pathophysiology of primary hyperparathy- roidism./Bone Mmerito 2002;17(Suppl 2):N24-9.