Document Detail

Genetics of primary hyperparathyroidism.
MedLine Citation:
PMID:  15133326     Owner:  NLM     Status:  MEDLINE    
Primary hyperparathyroidism, a genetically heterogeneous disease, usually occurs as a sporadic disorder due to the presence of parathyroid adenoma/s, hyperplasia or, rarely, carcinoma. In the last decades familial forms of primary hyperparathyroidism have been described. Recognizing such forms is essential for a correct clinical management of affected individual subjects and families. In fact, primary hyperparathyroidism may be the typical feature of familial syndrome or alternatively only an associated disorder within the context of a more complex syndromic picture. Several responsible genes have been so far identified, making their mutational analysis possible, which provides not only early identification of asymptomatic gene carriers, but could also add new important knowledge of the molecular mechanisms underlying parathyroid tumorigenesis. Such mechanisms could, in the near future, become an ideal target for new therapeutic strategies of primary hyperparathyroidism.
Maria Luisa Brandi; Alberto Falchetti
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Urologia internationalis     Volume:  72 Suppl 1     ISSN:  0042-1138     ISO Abbreviation:  Urol. Int.     Publication Date:  2004  
Date Detail:
Created Date:  2004-05-10     Completed Date:  2004-08-20     Revised Date:  2006-10-30    
Medline Journal Info:
Nlm Unique ID:  0417373     Medline TA:  Urol Int     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  11-6     Citation Subset:  IM    
Copyright Information:
Copyright 2004 S. Karger AG, Basel
Department of Internal Medicine, University of Florence, Florence, Italy.
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MeSH Terms
DNA Mutational Analysis
Genes, Tumor Suppressor*
Genetic Predisposition to Disease*
Hyperparathyroidism / epidemiology,  genetics*
Italy / epidemiology
Proto-Oncogene Proteins / genetics*
Risk Assessment
Reg. No./Substance:
0/Proto-Oncogene Proteins

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