PMID- 24947037
OWN - NLM
STAT- MEDLINE
DCOM- 20150112
LR  - 20220316
IS  - 1945-7197 (Electronic)
IS  - 0021-972X (Linking)
VI  - 99
IP  - 9
DP  - 2014 Sep
TI  - Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.
PG  - E1721-6
LID - 10.1210/jc.2014-1541 [doi]
AB  - CONTEXT: Heterozygous inactivating mutations of the calcium-sensing receptor 
      (CaSR) gene cause alterations in calcium metabolism [familial hypocalciuric 
      hypercalcemia (FHH)]. In addition, calcium-sensing receptor is expressed in the 
      myocardium and endocrine cells including pancreatic islets, enteroendocrine 
      cells, and adipose tissue. OBJECTIVE: To discern whether FHH is associated with 
      cardiometabolic alterations of clinical significance, endocrine responses to 
      systemic calcium stimulation and oral glucose tolerance tests were performed. 
      Ectopic lipid deposition and heart function were assessed using magnetic 
      resonance spectroscopy/imaging. PARTICIPANTS: Eight FHH patients and nine 
      controls matched for anthropometric characteristics (age 45 +/- 18 y; body mass 
      index 29 +/- 4 vs 29 +/- 6 kg/m(2)) were studied to determine cardiac function, 
      ectopic and visceral lipid content, and insulin sensitivity and secretion. 
      RESULTS: Insulin sensitivity (clamp-like index: 4.5 +/- 0.6 vs 4.3 +/- 0.4 mg/kg . 
      min), basal (insulin secretion rate: 266 +/- 33 vs 218 +/- 25 pmol/min), and 
      glucose-stimulated beta-cell function (adaptation index: 180.2 +/- 12.2 vs 176.2 +/- 
      17.4) as well as calcium-stimulated insulin secretion were comparable between FHH 
      and controls, respectively. Ectopic lipid content in liver [3.75% (1.4%; 34%) vs 
      4.18% (0.9%; 28%)], soleus muscle (1.07% +/- 0.38% vs 1.02% +/- 0.56 %), and 
      myocardium (0.39% +/- 0.3% vs 0.32% +/- 0.1 %), visceral and sc adipose tissue 
      distribution (0.51 +/- 0.16 vs 0.47 +/- 0.17) as well as heart function (ejection 
      fraction: 71.5% +/- 8% vs 72.8% +/- 8 %; E to A ratio: 1.4% +/- 0.6% vs 1.3% +/- 0.7%) 
      were not different between the groups. CONCLUSION: Despite comprehensive 
      cardiometabolic phenotyping, no alterations in myocardial function, lipid 
      distribution, or glucose metabolism were observed in FHH. Thus, FHH might reflect 
      a laboratory finding without any relevant cardiometabolic alterations.
FAU - Wolf, Peter
AU  - Wolf P
AD  - Department of Internal Medicine III, and High Field MR-Centre (M.Krs., I.J.K., 
      S.T.), Division of Endocrinology and Metabolism (P.W., M.Krs., Y.W., C.-H.A., 
      A.G., A.L., S.B.-P., M.Kre.), Department of Biomedical Imaging and Image-Guided 
      Therapy, Medical University of Vienna, 1090 Vienna, Austria; Metabolic Unit 
      (C.-H.A.), Institute of Biomedical Engineering, National Research Council, 
      I-35127 Padova, Italy; Mariahilf Community Pharmacy (C.-H.A.), A-9601 
      Arnoldstein, Austria; Medical Direction (C.-H.A.), Specialized Hospital Complex 
      Agathenhof, A-9322 Micheldorf, Austria; and Ludwig Boltzman Institute of 
      Osteology (E.Z.), Hanusch Hospital of the Vienna Regional Health Insurance Fund 
      and Austrian Workers' Compensation Board Trauma Center, 1100 Vienna, Austria.
FAU - Krssak, Martin
AU  - Krssak M
FAU - Winhofer, Yvonne
AU  - Winhofer Y
FAU - Anderwald, Christian-Heinz
AU  - Anderwald CH
FAU - Zwettler, Elisabeth
AU  - Zwettler E
FAU - Just Kukurova, Ivica
AU  - Just Kukurova I
FAU - Gessl, Alois
AU  - Gessl A
FAU - Trattnig, Siegfried
AU  - Trattnig S
FAU - Luger, Anton
AU  - Luger A
FAU - Baumgartner-Parzer, Sabina
AU  - Baumgartner-Parzer S
FAU - Krebs, Michael
AU  - Krebs M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140620
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Blood Glucose)
RN  - 0 (CASR protein, human)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - SY7Q814VUP (Calcium)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Adult
MH  - Blood Glucose/metabolism
MH  - Calcium/*metabolism
MH  - Female
MH  - Glucose Tolerance Test
MH  - Heart/physiology
MH  - Heterozygote
MH  - Humans
MH  - Hypercalcemia/*congenital/genetics/metabolism
MH  - Insulin Resistance/genetics
MH  - Lipid Metabolism/genetics
MH  - Magnetic Resonance Imaging
MH  - Magnetic Resonance Spectroscopy
MH  - Male
MH  - Middle Aged
MH  - Phenotype
MH  - Receptors, Calcium-Sensing/*genetics/metabolism
EDAT- 2014/06/21 06:00
MHDA- 2015/01/13 06:00
CRDT- 2014/06/21 06:00
PHST- 2014/06/21 06:00 [entrez]
PHST- 2014/06/21 06:00 [pubmed]
PHST- 2015/01/13 06:00 [medline]
AID - 10.1210/jc.2014-1541 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2014 Sep;99(9):E1721-6. doi: 10.1210/jc.2014-1541. Epub 
      2014 Jun 20.