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Molecular pathogenesis of primary hyperparathyroidism.
Cetani, F; Pardi, E; Borsari, S; Marcocci, C.
Afiliación
  • Cetani F; Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. cetani@endoc.med.unipi.it
J Endocrinol Invest ; 34(7 Suppl): 35-9, 2011 Jul.
Article en En | MEDLINE | ID: mdl-21985978
Primary hyperparathyroidism (PHPT) is a common endocrinopathy, mostly caused by a monoclonal parathyroid adenoma. The hereditary syndromes include multiple endocrine neoplasia types 1 (MEN 1) and 2A (MEN 2A), hereditary hyperparathyroidism-jaw tumor (HPTJT), familial isolated hyperparathyroidism (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). Mutations of MEN1 and CDKN1B genes are responsible for MEN 1 in 70-80% and about 2% of cases, respectively. MEN1 and CDKN1B genes have also a role in the pathogenesis of sporadic parathyroid adenomas. HRPT2/CDC73 gene mutations are responsible for HPT-JT and sporadic parathyroid carcinoma. MEN1 and HRPT2/CDC73 genes mutations have also been found in a subset of FIHP families. FHH and NSHPT represent the mildest and severest variants of PHPT, caused by heterozygous and homozygous mutations in the calcium sensing receptor (CASR) gene, respectively.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperparatiroidismo Primario Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Revista: J Endocrinol Invest Año: 2011 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Italia
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperparatiroidismo Primario Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Revista: J Endocrinol Invest Año: 2011 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Italia