PMID- 19423460
OWN - NLM
STAT- MEDLINE
DCOM- 20090807
LR  - 20161021
IS  - 1015-9584 (Print)
IS  - 1015-9584 (Linking)
VI  - 32
IP  - 2
DP  - 2009 Apr
TI  - A patient with primary hyperparathyroidism associated with familial hypocalciuric 
      hypercalcemia induced by a novel germline CaSR gene mutation.
PG  - 118-22
LID - 10.1016/S1015-9584(09)60022-1 [doi]
AB  - 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.
FAU - Yabuta, Tomonori
AU  - Yabuta T
AD  - Kuma Hospital, Kobe, Japan.
FAU - Miyauchi, Akira
AU  - Miyauchi A
FAU - Inoue, Hiroyuki
AU  - Inoue H
FAU - Yoshida, Hiroshi
AU  - Yoshida H
FAU - Hirokawa, Mitsuyoshi
AU  - Hirokawa M
FAU - Amino, Nobuyuki
AU  - Amino N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Asian J Surg
JT  - Asian journal of surgery
JID - 8900600
RN  - 0 (CASR protein, human)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Aged
MH  - Calcium/urine
MH  - Calcium Signaling/*genetics
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Hypercalcemia/*complications/*genetics
MH  - Hyperparathyroidism/*complications/surgery
MH  - Male
MH  - Parathyroidectomy
MH  - Pedigree
MH  - Receptors, Calcium-Sensing/*genetics
MH  - Sequence Analysis, DNA
MH  - Thyroidectomy
EDAT- 2009/05/09 09:00
MHDA- 2009/08/08 09:00
CRDT- 2009/05/09 09:00
PHST- 2009/05/09 09:00 [entrez]
PHST- 2009/05/09 09:00 [pubmed]
PHST- 2009/08/08 09:00 [medline]
AID - S1015-9584(09)60022-1 [pii]
AID - 10.1016/S1015-9584(09)60022-1 [doi]
PST - ppublish
SO  - Asian J Surg. 2009 Apr;32(2):118-22. doi: 10.1016/S1015-9584(09)60022-1.