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

Abstract：

:We report a patient with familial hypocalciuric hypercalcemia (FHH) associated with primary hyperparathyroidism (PHPT) and incidental papillary thyroid carcinoma. The patient showed hypercalcemia, high parathyroid hormone (PTH) levels and low urinary calcium excretion. A computed tomography (CT) scan revealed an enlarged parathyroid gland. Ultrasonography (US) and aspiration cytology revealed microcarcinoma of the left lobe of the thyroid gland. Screening studies of his family revealed that four of five family members had hypocalciuric hypercalcemia and normal PTH level. Sequencing analysis of the calcium sensing receptor gene revealed a novel heterozygous mutation (3193delA) in the patient and his family members with hypercalcemia, but one with normocalcemia. The patient underwent total thyroidectomy, central node dissection and extirpation of the enlarged parathyroid gland. Surgery is not indicated for FHH; however, FHH may be accompanied with parathyroid adenoma causing PHPT, as reported here, for which surgical treatment is indicated.

journal_name

Asian J Surg

journal_title

Asian journal of surgery

authors

Yabuta T,Miyauchi A,Inoue H,Yoshida H,Hirokawa M,Amino N

doi

10.1016/S1015-9584(09)60022-1

subject

Has Abstract

pub_date

2009-04-01 00:00:00

pages

118-22

issue

2

eissn

1015-9584

issn

0219-3108

pii

S1015-9584(09)60022-1

journal_volume

32

pub_type

杂志文章

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