Molecular genetics of hyperparathyroid disease.

摘要: Abstract Information on genetic abnormalities in primary hyperparathyroidism has accumulated gradually. Genetic alterations responsible for tumorigenesis have been identified multiple endocrine neoplasia types 1 and 2. Point mutations a calcium-sensing receptor gene were recently found to be familial hypocalciuric hypercalcaemia neonatal severe hyperparathyroidism. Evidence provided that of cell cycle regulation participate at parathyroid adenoma carcinoma. Clonal analysis shown renal the glands initially grow diffusely polyclonally, after which foci nodular hyperplasia are transformed monoclonal neoplasia. Somatic changes specific genes suspected being However, loci frequent monoclonality largely remain identified, heterogeneous may contribute progression secondary hyperplasia.