Vol 56, No 3 (2005)
Other materials agreed with the Editors
Published online: 2006-03-24
Molecular aspects of the etiopathogenesis of the parathyroid gland diseases
Endokrynol Pol 2005;56(3):327-332.
Abstract
Current views on the molecular aspects of familial parathyroid gland diseases have been presented (familial primary hyperparathyroidism, hypoparathyroidism and psuedohypoparathyroidism).
Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies.
Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies.
Keywords: familial primary hyperparathyroidismhypoparathyroidismpseudohypoparathyroidismHRTP 2 geneMEN1 genePTH geneCASR geneGNAS 1 gene
