PMID- 21318141 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20110714 LR - 20211020 IS - 1687-8345 (Electronic) IS - 1687-8337 (Print) IS - 1687-8337 (Linking) VI - 2010 DP - 2010 TI - Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1. PG - 928383 LID - 10.1155/2010/928383 [doi] LID - 928383 AB - Primary hyperparathyroidism may occur as a part of an inherited syndrome in a combination with pancreatic endocrine tumours and/or pituitary adenoma, which is classified as Multiple Endocrine Neoplasia type 1 (MEN-1). This syndrome is caused by a germline mutation in MEN-1 gene encoding a tumour-suppressor protein, menin. Primary hyperparathyroidism is the most frequent clinical presentation of MEN-1, which usually appears in the second decade of life as an asymptomatic hypercalcemia and progresses through the next decades. The most frequent clinical presentation of MEN-1-associated primary hyperparathyroidism is bone demineralisation and recurrent kidney stones rarely followed by chronic kidney disease. The aim of this paper is to present the pathomechanism, screening procedures, diagnosis, and management of primary hyperparathyroidism in the MEN-1 syndrome. It also summarises the recent advances in the pharmacological therapy with a new group of drugs-calcimimetics. FAU - Piecha, Grzegorz AU - Piecha G AD - Department of Nephrology, Endocrinology and Metabolic Diseases, Medical University of Silesia, ul. Francuska 20/24, 40-027 Katowice, Poland. FAU - Chudek, Jerzy AU - Chudek J FAU - Wiecek, Andrzej AU - Wiecek A LA - eng PT - Journal Article DEP - 20110117 PL - Egypt TA - Int J Endocrinol JT - International journal of endocrinology JID - 101516376 PMC - PMC3034958 EDAT- 2011/02/15 06:00 MHDA- 2011/02/15 06:01 PMCR- 2011/01/17 CRDT- 2011/02/15 06:00 PHST- 2010/11/03 00:00 [received] PHST- 2010/12/13 00:00 [accepted] PHST- 2011/02/15 06:00 [entrez] PHST- 2011/02/15 06:00 [pubmed] PHST- 2011/02/15 06:01 [medline] PHST- 2011/01/17 00:00 [pmc-release] AID - 10.1155/2010/928383 [doi] PST - ppublish SO - Int J Endocrinol. 2010;2010:928383. doi: 10.1155/2010/928383. Epub 2011 Jan 17.