The genetic background of uremic secondary hyperparathyroidism

Filippo Aucella, Luigi Morrone, Carmine Stallone, Loreto Gesualdo

Research output: Contribution to journalArticle

Abstract

Many studies have shown how gene mutations and genetic polymorphisms could influence secondary uremic hyperparathyroidism (HPTH), modulating parathyroid (PT) function and hyperplasia. Parathyroid hormone (PTH) gene expression and hormone secretion is regulated mainly by serum calcium, with a post-transcriptional effect, and by vitamin D with a transcriptional effect. PT cells retain the ability to proliferate and to apoptose. Hyperphosphatemia, hypocalcemia and vitamin D deficiency all stimulate PT cell proliferation. In the early stage of chronic uremia, PT proliferation is polyclonal, as in diffuse hyperplasia, whereas nodular hyperplasia growth is monoclonal with an increasingly recognized genetic background. HPTH has been associated with a number of familial diseases, such as multiple endocrine neoplasia-type 1 (MEN1), multiple endocrine neoplasia-type2A (MEN2A), neurofibromatosis type1 (NF1) and HPTH with multiple ossifying jaw fibromas (HPT-JT Syndrome). The genes involved in these diseases have been also investigated in secondary HPTH (sHPTH). Moreover, in sporadic and secondary uremic HPTH, clonal rearrangement and/or oncogene overexpression, gene deletions and tumor suppressor gene inactivation have been reported. However, each condition shows different patterns of genetic abnormalities. Finally, PT function modulation by genetic polymorphisms of vitamin D and calcium receptors and of the PTH gene is reviewed.

Original languageEnglish
Pages (from-to)537-547
Number of pages11
JournalJournal of Nephrology
Volume18
Issue number5
Publication statusPublished - Sep 2005

Keywords

  • Calcium sensor receptor
  • Chronic uremia
  • Gene
  • Mutation
  • Parathyroid
  • Parathyroid hormone
  • Polymorphism
  • Secondary hyperparathyroidism
  • Vitamin D receptor

ASJC Scopus subject areas

  • Nephrology

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  • Cite this

    Aucella, F., Morrone, L., Stallone, C., & Gesualdo, L. (2005). The genetic background of uremic secondary hyperparathyroidism. Journal of Nephrology, 18(5), 537-547.