Genes up- or down-regulated by high calcium medium in parathyroid tissue explants from patients with primary hyperparathyroidism.

To investigate genes modulated in the parathyroid glands by calcium, expression levels of mRNA for all genes expressed in parathyroid tissue explants (PTEs) obtained from patients with primary hyperparathyroidism (I degrees -HPT) were analyzed by oligo-DNA microarray. PTEs obtained from 4 patients with I degrees -HPT were precultured in normocalcemic medium (Ca(++) 1.0-1.

Novel gain of function mutations of the calcium-sensing receptor in two patients with PTH-deficient hypocalcemia.

Among 15 patients with PTH-deficient idiopathic hypocalcemia, we found two novel missense mutations in the calcium-sensing receptor (CaSR). Patient 1, who developed severe hypocalcemia (5.0 mg/dL) and seizures after birth, had a heterozygous de novo missense mutation in the transmembrane domain (A844P).

PTH(7-84) inhibits PTH(1-34)-induced 1,25-(OH)2D3 production in murine renal tubules.

To elucidate whether PTH(7-84), a degradation product of PTH(1-84), which inhibits PTH(1-84)-induced bone resorption, also exerts an antagonistic effect on the kidney, we studied the effect of PTH(7-84) on PTH(1-34)-induced production of 1,25-(OH)2D3 in primary cultured murine renal tubules. Neonatal mouse renal tubules cultured in serum-free MEM for 7 days were treated with PTH(1-34) and/or PTH(7-84). Three hours after addition of 25-OHD(3) (10(-6) M), 1,25-(OH)2D3 was determined.

Stimulating parathyroid cell proliferation and PTH release with phosphate in organ cultures obtained from patients with primary and secondary hyperparathyroidism for a prolonged period.

The pathogenesis of primary hyperparathyroidism (I degrees -HPT) and secondary hyperparathyroidism (II degrees -HPT) remains to be elucidated. To characterize their pathophysiology, we investigated the effects of calcium and phosphate on cell proliferation and PTH release in an organ culture of parathyroid tissues. Dissected parathyroid tissues obtained from patients with I degrees -HPT (adenoma) or II degrees -HPT (nodular hyperplasia) were precultured on a collagen-coated membrane for 1-4 week.

Hypercalcemia induced by excessive intake of calcium supplement, presenting similar findings of primary hyperparathyroidism.

A 31-year-old woman had ureterolithiasis related to hypercalcemia, and when she was admitted to our hospital ultrasonography and technetium-99 m sestamibi scintigraphy did not detect parathyroid abnormalities. Serum concentrations of calcium and intact parathyroid hormone were 9.7 mg/dl and 153 pg/ml, respectively, but subsequently increased to 13.

A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.

Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene. A 39-year-old female patient developed chronic mucocutaneous candidiasis at 3 yrs, idiopathic hypoparathyroidism at 11 yrs, chronic hepatitis at 23 yrs, Addison's disease and diabetes mellitus type I at 27 yrs. In addition, the patient developed progressive muscular atrophy of unknown etiology at the beginning of the third decade, and is bedridden at the present time.