Abstract
Background. Familial primary hyperparathyroidism is associated with tumor-susceptibility syndromes,
which are unrelated to mutations in the calcium receptor gene. This study describes
parathyroidectomy in a kindred with hypercalcemia due to a heterozygous point mutation
in the calcium receptor gene. Methods. Seventeen family members were studied, and postoperative follow-up averaged 5.1 years.
Results. Radical parathyroid resection with total parathyroid remnants of 10 to 20 mg or total
parathyroidectomy with autotransplantation normalized the serum calcium and parathyroid
hormone values in 12 family members. Persistent hypercalcemia was noted in 3 of 5
patients subjected to less radical procedures. Diffuse to nodular hyperplasia and
microscopic findings, interpreted incorrectly as a single adenoma, were found. Weight
of the parathyroid tissue increased with the age of the patients (P <.05), and almost one third of them (29%) had 1 to 3 atypically located glands. There
were no patients with recurrent hypercalcemia during follow-up. Conclusions. The heterozygous inactivating mutation of the calcium receptor gene of this family
is accompanied by mild increases in parathyroid gland × weight and diffuse parathyroid
hyperplasia with possibly secondary genetic events causing nodule formation. Radical
parathyroid resection is advocated in this hypercalcemic disorder, which may represent
an intermediary stage between primary hyperparathyroidism and familial hypocalciuric
hypercalcemia. (Surgery 2002;131:257-63.)
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Article info
Publication history
Accepted:
September 27,
2001
Footnotes
*Supported by the Swedish Medical Research Council, the Swedish Society of Medical Research, and the Fredrik and Ingrid Thuring Foundation.
**Reprint requests: Eva Szabo, MD, Department of Surgery, University Hospital, S-751 85, Uppsala, Sweden.
Identification
Copyright
© 2002 Mosby, Inc. Published by Elsevier Inc. All rights reserved.
