PMID- 16430712
OWN - NLM
STAT- MEDLINE
DCOM- 20060605
LR  - 20230411
IS  - 0300-0664 (Print)
IS  - 0300-0664 (Linking)
VI  - 64
IP  - 2
DP  - 2006 Feb
TI  - Genetic analyses in familial isolated hyperparathyroidism: implication for 
      clinical assessment and surgical management.
PG  - 146-52
AB  - OBJECTIVE: Familial isolated primary hyperparathyroidism (FIPH) can result from 
      either incomplete expression of a syndromic form of familial primary 
      hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), 
      hyperparathyroidism-jaw tumour syndrome (HPT-JT) or familial hypocalciuric 
      hypercalcaemia (FHH)] or still unrecognized causes. Design Genetic analyses of 
      MEN1, HRPT2 and CASR genes in FIHP. PATIENTS: Seven well-characterized Italian 
      kindreds with FIHP, with negative clinical features for MEN 1, HPT-JT and FHH. 
      The mean age (+/- SD) at diagnosis was 45 +/- 17 years (range 18-70 years) in the 
      probands and 42 +/- 18 years (range 15-69 years) in the other affected subjects. 
      MEASUREMENTS: Direct sequencing of germline DNA of the MEN1, HRPT2 and CASR genes 
      from probands. The region of interest was amplified in some family members. 
      RESULTS: Germline MEN1 mutations were detected in three kindreds. Multiglandular 
      involvement was found in all but one affected subject belonging to the three 
      kindreds with MEN1 mutations. In these patients persistence/relapse of the 
      disease was observed unless an extensive parathyroidectomy (excision of 3(1)/(2) 
      glands) had been performed, with the exception of one patient, who is currently 
      normocalcaemic 168 months after excision of two glands. No mutations of MEN1, 
      HRPT2 and CASR genes were identified in the remaining four families. CONCLUSIONS: 
      MEN1 genotyping appears worthwhile in FIHP families, as the finding of 
      mutation(s) may predict multiglandular involvement and therefore have practical 
      surgical implications, and prompt further investigation in the family, with the 
      possibility of identifying new cases and beginning a programme of periodic 
      surveillance for emergence of tumours in all carriers.
FAU - Cetani, Filomena
AU  - Cetani F
AD  - Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. 
      cetani@endoc.med.unipi.it
FAU - Pardi, Elena
AU  - Pardi E
FAU - Ambrogini, Elena
AU  - Ambrogini E
FAU - Lemmi, Monica
AU  - Lemmi M
FAU - Borsari, Simona
AU  - Borsari S
FAU - Cianferotti, Luisella
AU  - Cianferotti L
FAU - Vignali, Edda
AU  - Vignali E
FAU - Viacava, Paolo
AU  - Viacava P
FAU - Berti, Piero
AU  - Berti P
FAU - Mariotti, Stefano
AU  - Mariotti S
FAU - Pinchera, Aldo
AU  - Pinchera A
FAU - Marcocci, Claudio
AU  - Marcocci C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
RN  - 0 (CASR protein, human)
RN  - 0 (CDC73 protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Adenoma/complications/genetics/pathology
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Base Sequence
MH  - *Family Health
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism, Primary/complications/*genetics/pathology
MH  - Hyperplasia/complications/genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Parathyroid Glands/pathology
MH  - Parathyroid Neoplasms/complications/genetics/pathology
MH  - Pedigree
MH  - Proto-Oncogene Proteins/genetics
MH  - Receptors, Calcium-Sensing/genetics
MH  - Recurrence
MH  - Tumor Suppressor Proteins/genetics
EDAT- 2006/01/25 09:00
MHDA- 2006/06/06 09:00
CRDT- 2006/01/25 09:00
PHST- 2006/01/25 09:00 [pubmed]
PHST- 2006/06/06 09:00 [medline]
PHST- 2006/01/25 09:00 [entrez]
AID - CEN2438 [pii]
AID - 10.1111/j.1365-2265.2006.02438.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2006 Feb;64(2):146-52. doi: 
      10.1111/j.1365-2265.2006.02438.x.