Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia (FHH ) is a lifelong , benign , inherited condition caused by inactivating mutations in the calcium-sensing receptor (CASR ) gene . Both FHH and primary hyperparathyroidism (PHPT ) are characterized by elevated P-calcium , normal or elevated plasma-parathyroid hormone (P-PTH ), and typically normal renal function . In PHPT , vitamin D metabolism is typically characterized by low plasma levels of 25 -hydroxyvitamin D (25 OHD ), and high plasma levels of 1 ,25 -dihydroxyvitamin D (1 ,25 (OH )(2 )D ). In FHH , the vitamin D metabolism is not very well known .To compare and evaluate plasma 25 OHD , 1 ,25 (OH )(2 )D , and PTH in FHH and PHPT .Cross-sectional study .About 66 FHH patients with mutations in the CASR gene , 147 patients with surgically verified PHPT , and 46 controls matched to FHH patients according to age (+/-5 years ), sex , and season . All patients had a P-creatinine <140 micromol /l .We measured P-calcium , P-Ca (2 )(+), P-albumin , P-creatinine , P-phosphate , P-magnesium , and P-PTH by standard laboratory methods . P-25 OHD and P-1 ,25 (OH )(2 )D were measured by RIA or enzyme immunoassay . In FHH , all protein-coding exons in the CASR gene were sequenced and aligned to GenBank reference sequence NM _000388 .2 .PHPT patients had higher body mass index (2 p <0 .01 ), together with higher P-PTH (2 p <0 .01 ) and P-1 ,25 (OH )(2 )D (2 p <0 .01 ) compared with FHH patients . The groups had similar levels of P-Ca (2 )(+) and of P-25 OHD . The phenotypic expression of the CASR mutations (as determined by the degree of hypercalcemia ) did not influence the levels of P-1 ,25 (OH )(2 )D .Even though P-calcium and P-25 OHD were comparable , P-1 ,25 (OH )(2 )D and P-PTH differed between FHH and PHPT .

Diseases
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Diseases presenting "inactivating mutations in the calcium-sensing receptor" symptom

familial hypocalciuric hypercalcemia

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