PMID- 22232026
OWN - NLM
STAT- MEDLINE
DCOM- 20120914
LR  - 20210204
IS  - 1934-2403 (Electronic)
IS  - 1530-891X (Linking)
VI  - 18
IP  - 3
DP  - 2012 May-Jun
TI  - Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: 
      relationships and clinical implications.
PG  - 412-7
LID - 10.4158/EP11272.RA [doi]
AB  - OBJECTIVE: To discuss the unusual occurrence of both familial hypocalciuric 
      hypercalcemia (FHH) and primary hyperparathyroidism in the same patient and to 
      explore potential mechanisms of association and issues related to clinical 
      management. METHODS: We discuss the diagnosis, compare the clinical presentations 
      of FHH and primary hyperparathyroidism, review the literature regarding patients 
      who have presented with both disorders, and discuss management considerations. We 
      also describe 2 patients who have both FHH (confirmed by genetic testing for a 
      mutation in the gene encoding the calcium-sensing receptor [CASR]) and primary 
      hyperparathyroidism. RESULTS: The occurrence of both FHH and primary 
      hyperparathyroidism in the same patient has been reported in a few cases, 
      including 2 patients described here, one of whom was documented to have a novel 
      CASR mutation. In those with clinical sequelae of hyperparathyroidism, 
      parathyroidectomy has led to reduction, but not normalization, of serum calcium 
      levels. CONCLUSIONS: The coexistence of FHH and primary hyperparathyroidism 
      should be considered in patients with hypercalcemia, hypophosphatemia, frankly 
      elevated parathyroid hormone levels, and low urinary calcium excretion. Genetic 
      testing for inactivating CASR gene mutations can confirm the diagnosis of FHH. 
      Although surgical intervention does not resolve hypercalcemia, it may be 
      beneficial by reducing the degree of hypercalcemia, alleviating the symptoms, and 
      preventing potential complications of hyperparathyroidism.
FAU - Eldeiry, Leslie S
AU  - Eldeiry LS
AD  - Department of Endocrinology, Harvard Vanguard Medical Associates, Boston, 
      Massachusetts 02215, USA. leslie_eldeiry@vmed.org
FAU - Ruan, Daniel T
AU  - Ruan DT
FAU - Brown, Edward M
AU  - Brown EM
FAU - Gaglia, Jason L
AU  - Gaglia JL
FAU - Garber, Jeffrey R
AU  - Garber JR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Endocr Pract
JT  - Endocrine practice : official journal of the American College of Endocrinology 
      and the American Association of Clinical Endocrinologists
JID - 9607439
RN  - 0 (CASR protein, human)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Female
MH  - Humans
MH  - Hypercalcemia/complications/*congenital/etiology/genetics/physiopathology/prevention 
      & control
MH  - Hyperparathyroidism, Primary/*complications/diagnosis/physiopathology/*surgery
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - *Parathyroidectomy
MH  - Receptors, Calcium-Sensing/genetics
MH  - Severity of Illness Index
EDAT- 2012/01/11 06:00
MHDA- 2012/09/15 06:00
CRDT- 2012/01/11 06:00
PHST- 2012/01/11 06:00 [entrez]
PHST- 2012/01/11 06:00 [pubmed]
PHST- 2012/09/15 06:00 [medline]
AID - S1530-891X(20)41469-7 [pii]
AID - 10.4158/EP11272.RA [doi]
PST - ppublish
SO  - Endocr Pract. 2012 May-Jun;18(3):412-7. doi: 10.4158/EP11272.RA.