title: Familial hypocalciuric hypercalcemia: description of a new kindred with emphasis on its difference from primary hyperparathyroidism.
abstract: 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)
authors.forename: F
authors.initials: F
authors.lastname: Gilbert
authors.forename: P
authors.initials: P
authors.lastname: D'Amour
authors.forename: M
authors.initials: M
authors.lastname: Gascon-Barré
authors.forename: J M
authors.initials: JM
authors.lastname: Boutin
authors.forename: J
authors.initials: J
authors.lastname: Havramkova
authors.forename: R
authors.initials: R
authors.lastname: Bélanger
authors.forename: R
authors.initials: R
authors.lastname: Matte
mesh_terms: D000236:Adenoma / Q000150:complications; D000328:Adult; D002118:Calcium / Q000652:urine*; D002675:Child, Preschool; D000242:Cyclic AMP / Q000652:urine; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006961:Hyperparathyroidism / Q000175:diagnosis* / Q000209:etiology; D008875:Middle Aged; D010282:Parathyroid Neoplasms / Q000150:complications; D010375:Pedigree
chemical_list: D000242:Cyclic AMP; D002118:Calcium