Fisiopatologia e trattamento nelle forme familiari dell'Iperparatiroidismo Primitivo

Bilezikian J.P. , Silverberg S.J. Clinical spectrum of primary hyperparathyroidism. Rev Endocr Metab Disord 2000; 1: 237–45.

Falchetti A. , Brandi M.L. Hereditary Hyperparathyroidism. Clinical Cases in Mineral and Bone Metabolism 2006; 3: 141–149.

Brandi M.L. , Gagel R.F. , Angeli A. . Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86(12): 5658–71.

Chandrasekharappa S.C. , Guru S.C. , Manickam P. . Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997; 276(5311): 404–7.

Marx S.J. Multiple endocrine neoplasia type 1. In: Scriver C.R. , Beaudet A.L. , Sly W.S. , Valle D. , eds. The Metabolic and Molecular Bases of Inherited Disease, 8 ed. New York: McGraw-Hill, 2001; 943–66.

Balogh K. , Rácz K. , Patócs A. , Hunyady L. Menin and its interacting proteins: elucidation of menin function. Trends Endocrinol Metab 2006; 17(9): 357–64.

Larsson C. , Skogseid B. , Oberg K. , Nakamura Y. , Nordenskjöld M. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988; 332(6159): 85–7.

Mulligan L.M. , Eng C. , Healey C.S. . Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994, 6(1 Il calciomimetico nell'iperparatiroidismo primitivo e se): 70–4.

Santoro M. , Melillo R.M. , Carlomagno F. , Vecchio G. , Fusco A. Minireview: RET: normal and abnormal functions. Endocrinology 2004; 145(12): 5448–51.

Wassif W.S. , Moniz C.F. , Friedman E. . Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocr Metab 1993; 77: 1485–9.

Villablanca A. , Wassif W.S. , Smith T. . Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. Eur J Endocrinol 2002; 147(3): 313–22.

Warner J. , Epstein M. , Sweet A. . Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 2004; 41: 155–60.

Carling T. , Udelsman R. Parathyroid surgery in familial hyperparathyroid disorders. J Intern Med 2005; 257: 27–37.

Simonds W.F. , James-Newton L.A. , Agarwal S.K. . Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine 2002; 81: 1–26.

Carpten J.D. , Robbins C.M. , Villablanca A. . HRPT2, encoding parafibromin, is mutated in hyperparathyroidismjaw tumor syndrome. Nature Genet 2002; 32: 676–80.

Jackson C.E. Hereditary hyperparathyroidism associated with recurrent pancreatitis. Ann Intern Med 1958, 49(4): 829–36.

Mallette L.E. , Malini S. , Rappaport M.P. , Kirkland J.L. Familial cystic parathyroid adenomatosis. Ann Intern Med. 1987; 107(1 Il calciomimetico nell'iperparatiroidismo primitivo e se): 54–60.

Shattuck T.M. , Valimaki S. , Obara T. . Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003; 349(18): 1722–9.

Teh B.T. , Farnebo F. , Kristoffersson U. . Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab 1996; 81(12): 4204–11.

Cavaco B.M. , Barros L. , Pannett A.A. . The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM 2001; 94(4): 213–22.

Marx S.J. , Spiegel A.M. , Brown E.M. , Aurbach G.D. Family studies in patients with primary parathyroid hyperplasia. Am J Med 1977; 62(5): 698–706.

Marx S.J. , Attie M.F. , Levine M.A. , Spiegel A.M. , Downs R.W. Jr. , Lasker R.D. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) 1981; 60(6): 397–412.

Marx S.J. , Fraser D. , Rapoport A. Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. Am J Med 1985; 78(1 Il calciomimetico nell'iperparatiroidismo primitivo e se): 15–22.

Carling T. , Szabo E. , Bai M. . Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 2000; 85(5): 2042–7.

Tonelli F. , Marcucci T. , Fratini G. , Tommasi M.S. , Falchetti A. , Brandi M.L. Is total parathyroidectomy the treatment of choice for hyperparathyroidism in multiple endocrine neoplasia type 1? Ann Surg 2007; 246(6): 1075–82.

Falchetti A. , Cilotti A. , Vaggelli L. . A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet. Nat Clin Pract Endocrinol Metab. 2008 Jun;4(6): 351–7.

Rus R. , Haag C. , Bumke-Vogt C. . Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. J Clin Endocrinol Metab 2008; 93(12): 4797–803.

Lamberts S.W. , de Herder W.W. , van Koetsveld P.M. . Somatostatin receptors: clinical implications for endocrinology and oncology. Ciba Foundation Symposium 1995; 190: 222–36.

Oberg K. , Kvols L., Caplin M, et al. Consensus report on the use of somatostatin analogs for the management of neuroendocrine tumors of the gastroenteropancreatic system. Annals of Oncology 2004; 15: 966–73.

Faggiano A. , Tavares L.B. , Tauchmanova L. . Effect of treatment with depot somatostatin analogue octreotide on primary hyperparathyroidism (PHP) in multiple endocrine neoplasia type 1 (MEN1) patients. Clinical Endocrinology 2008; 69: 756–62.