PMID- 2985312
OWN - NLM
STAT- MEDLINE
DCOM- 19850530
LR  - 20131121
IS  - 0147-958X (Print)
IS  - 0147-958X (Linking)
VI  - 8
IP  - 1
DP  - 1985
TI  - Familial hypocalciuric hypercalcemia: description of a new kindred with emphasis 
      on its difference from primary hyperparathyroidism.
PG  - 78-84
AB  - In order to better understand the difference between familial hypocalciuric 
      hypercalcemia (FHH) and primary hyperparathyroidism (PHP), 4 adults with this 
      disease (FHH(+], from the same kindred, and spanning 2 generations, were compared 
      with 6 patients with PHP, 10 normal controls (N) and 3 unaffected members of the 
      same kindred (FHH(-]. Clinically speaking, the FHH(+) patients were asymptomatic 
      while those with PHP had recurring renal stones. Various phosphocalcic balance 
      elements were measured in blood and urine, in a fasting state, following oral 
      loading of 1 g calcium, as well as in 24-hour urine specimens. Serum calcium 
      levels were slightly higher (11.90 +/- .14 vs 11.37 +/- .24 mg/dl; p less than 
      .05), in patients with FHH(+), but serum phosphorus (2.47 +/- .38 vs 2.88 +/- .40 
      mg/dl), serum parathyroid hormone (301 +/- 147 vs 291 +/- 224 pg/ml) and serum 
      1,25(OH)2D (52.8 +/- 6.7 vs 55.0 +/- 12.0 pg/ml) values were similar to those 
      observed in patients with PHP. Urinary calcium present in FHH(+), while fasting 
      (.064 +/- .043 mg/100 ml G.F.), after the calcium loading (.150 +/- .071) and in 
      the 24-hour specimen (.089 +/- .016), was below the 95% confidence limit of 
      values obtained in patients with PHP (.225 +/- .026, p less than .001; .413 +/- 
      .066, p less than .001; 314 +/- .080, p less than .001), but similar to those 
      obtained in N and FHH(-).(ABSTRACT TRUNCATED AT 250 WORDS)
FAU - Gilbert, F
AU  - Gilbert F
FAU - D'Amour, P
AU  - D'Amour P
FAU - Gascon-Barre, M
AU  - Gascon-Barre M
FAU - Boutin, J M
AU  - Boutin JM
FAU - Havramkova, J
AU  - Havramkova J
FAU - Belanger, R
AU  - Belanger R
FAU - Matte, R
AU  - Matte R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Canada
TA  - Clin Invest Med
JT  - Clinical and investigative medicine. Medecine clinique et experimentale
JID - 7804071
RN  - E0399OZS9N (Cyclic AMP)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Adenoma/complications
MH  - Adult
MH  - Calcium/*urine
MH  - Child, Preschool
MH  - Cyclic AMP/urine
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - Hypercalcemia/complications/diagnosis/*genetics
MH  - Hyperparathyroidism/*diagnosis/etiology
MH  - Middle Aged
MH  - Parathyroid Neoplasms/complications
MH  - Pedigree
EDAT- 1985/01/01 00:00
MHDA- 1985/01/01 00:01
CRDT- 1985/01/01 00:00
PHST- 1985/01/01 00:00 [pubmed]
PHST- 1985/01/01 00:01 [medline]
PHST- 1985/01/01 00:00 [entrez]
PST - ppublish
SO  - Clin Invest Med. 1985;8(1):78-84.