PMID- 16299679
OWN - NLM
STAT- MEDLINE
DCOM- 20060117
LR  - 20181203
IS  - 1121-8428 (Print)
IS  - 1121-8428 (Linking)
VI  - 18
IP  - 5
DP  - 2005 Sep-Oct
TI  - The genetic background of uremic secondary hyperparathyroidism.
PG  - 537-47
AB  - 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.
FAU - Aucella, Filippo
AU  - Aucella F
AD  - Department of Nephrology and Dialysis, Casa Sollievo della Sofferenza Hospital 
      IRCCS, San Giovanni Rotondo--Italy. faucel@tin.it
FAU - Morrone, Luigi
AU  - Morrone L
FAU - Stallone, Carmine
AU  - Stallone C
FAU - Gesualdo, Loreto
AU  - Gesualdo L
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Italy
TA  - J Nephrol
JT  - Journal of nephrology
JID - 9012268
RN  - 0 (Parathyroid Hormone)
RN  - 0 (Receptors, Calcitriol)
RN  - 0 (Receptors, Calcium-Sensing)
SB  - IM
MH  - Cell Proliferation
MH  - Gene Expression Regulation
MH  - Genetic Therapy
MH  - Humans
MH  - Hyperparathyroidism, Secondary/*genetics/therapy
MH  - Kidney Failure, Chronic/genetics
MH  - Mutation
MH  - Parathyroid Glands/cytology
MH  - Parathyroid Hormone/*biosynthesis/metabolism
MH  - Polymorphism, Genetic
MH  - Receptors, Calcitriol/genetics
MH  - Receptors, Calcium-Sensing/genetics
MH  - Uremia/*genetics
RF  - 98
EDAT- 2005/11/22 09:00
MHDA- 2006/01/18 09:00
CRDT- 2005/11/22 09:00
PHST- 2005/11/22 09:00 [pubmed]
PHST- 2006/01/18 09:00 [medline]
PHST- 2005/11/22 09:00 [entrez]
PST - ppublish
SO  - J Nephrol. 2005 Sep-Oct;18(5):537-47.