PMID- 27418061
OWN - NLM
STAT- MEDLINE
DCOM- 20170206
LR  - 20170206
IS  - 1479-683X (Electronic)
IS  - 0804-4643 (Linking)
VI  - 175
IP  - 4
DP  - 2016 Oct
TI  - The cardiovascular system in familial hypocalciuric hypercalcemia: a 
      cross-sectional study on physiological effects of inactivating variants in the 
      calcium-sensing receptor gene.
PG  - 299-309
LID - 10.1530/EJE-16-0369 [doi]
AB  - OBJECTIVE: Loss-of-function variants in the gene encoding the calcium-sensing 
      receptor (CASR) result in familial hypocalciuric hypercalcemia (FHH), causing 
      hypercalcemia with high normal or elevated parathyroid hormone levels. The CASR 
      may also influence electrolyte and water homeostasis. It is unknown whether FHH 
      affects cardiovascular health. We, therefore investigated whether FHH is 
      associated with changes in the regulation of the cardiovascular system by 
      measuring 24-h blood pressure (BP), arterial stiffness and vasoactive hormones. 
      DESIGN: Cross-sectional study comparing 50 patients with FHH to age- and 
      gender-matched controls. RESULTS: Studied subjects (69% women) had a mean age of 
      56years. A similar number of patients and controls (33%) were on treatment with 
      antihypertensive drugs. Overall, no differences were found between groups in 24-h 
      ambulatory BP or pulse wave velocity. However, compared with controls, diastolic 
      BP during nighttime was lower in FHH females (60+/-5 vs 66+/-9mmHg, P<0.01) and 
      higher in FHH males (69+/-6 vs 64+/-5mmHg, P=0.02). FHH was associated with a 
      significantly higher plasma osmolality (P<0.01), higher plasma levels of 
      vasopressin (P<0.01) and a higher renal excretion of epithelial sodium channels 
      (ENaCs) (P=0.03), whereas urine aquaporin-2 and plasma sodium, aldosterone and 
      renin did not differ between groups. FHH patients had a lower urinary volume with 
      an increased osmolality if analyses were restricted to those not on treatments 
      with antihypertensive drugs. CONCLUSIONS: FHH does not seem to be associated with 
      an increased risk of CVD.
CI  - (c) 2016 European Society of Endocrinology.
FAU - Breum Jakobsen, Niels Frederik
AU  - Breum Jakobsen NF
AD  - Department of Endocrinology and Internal MedicineAarhus University Hospital, 
      Aarhus, Denmark.
FAU - Laugesen, Esben
AU  - Laugesen E
AD  - Department of Endocrinology and Internal MedicineAarhus University Hospital, 
      Aarhus, Denmark Danish Diabetes AcademyOdense University Hospital, Odense, 
      Denmark Department of Clinical MedicineAarhus University, Aarhus, Denmark.
FAU - Rolighed, Lars
AU  - Rolighed L
AD  - Departments of Surgery.
FAU - Nissen, Peter H
AU  - Nissen PH
AD  - Clinical BiochemistryAarhus University Hospital, Aarhus, Denmark.
FAU - Poulsen, Per Logstrup
AU  - Poulsen PL
AD  - Department of Endocrinology and Internal MedicineAarhus University Hospital, 
      Aarhus, Denmark.
FAU - Pedersen, Erling Bjerregaard
AU  - Pedersen EB
AD  - Department of Clinical MedicineAarhus University, Aarhus, Denmark University 
      Clinic in Nephrology and HypertensionHolstebro Hospital, Hospital Jutland West, 
      Holstebro, Denmark.
FAU - Mosekilde, Leif
AU  - Mosekilde L
AD  - Department of Endocrinology and Internal MedicineAarhus University Hospital, 
      Aarhus, Denmark.
FAU - Rejnmark, Lars
AU  - Rejnmark L
AD  - Department of Endocrinology and Internal MedicineAarhus University Hospital, 
      Aarhus, Denmark Department of Clinical MedicineAarhus University, Aarhus, Denmark 
      lars.rejnmark@rm.dk.
LA  - eng
PT  - Journal Article
DEP - 20160714
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 11000-17-2 (Vasopressins)
RN  - 4964P6T9RB (Aldosterone)
RN  - 9NEZ333N27 (Sodium)
RN  - EC 3.4.23.15 (Renin)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Aldosterone/blood
MH  - Blood Pressure/*physiology
MH  - Cardiovascular System/*physiopathology
MH  - Cross-Sectional Studies
MH  - Female
MH  - Humans
MH  - Hypercalcemia/blood/*congenital/genetics/physiopathology
MH  - Male
MH  - Middle Aged
MH  - Receptors, Calcium-Sensing/*genetics
MH  - Renin/blood
MH  - Sodium/blood
MH  - Vascular Stiffness/*physiology
MH  - Vasopressins/blood
EDAT- 2016/07/16 06:00
MHDA- 2017/02/07 06:00
CRDT- 2016/07/16 06:00
PHST- 2016/04/26 00:00 [received]
PHST- 2016/07/14 00:00 [accepted]
PHST- 2016/07/16 06:00 [entrez]
PHST- 2016/07/16 06:00 [pubmed]
PHST- 2017/02/07 06:00 [medline]
AID - EJE-16-0369 [pii]
AID - 10.1530/EJE-16-0369 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2016 Oct;175(4):299-309. doi: 10.1530/EJE-16-0369. Epub 2016 
      Jul 14.