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2016 ; 2
(ä): 16033
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Primary hyperparathyroidism
#MMPMID27194212
Bilezikian JP
; Cusano NE
; Khan AA
; Liu JM
; Marcocci C
; Bandeira F
Nat Rev Dis Primers
2016[May]; 2
(ä): 16033
PMID27194212
show ga
Primary hyperparathyroidism (PHPT) is a common disorder in which parathyroid
hormone (PTH) is excessively secreted from one or more of the four parathyroid
glands. A single benign parathyroid adenoma is the cause in most people. However,
multiglandular disease is not rare and is typically seen in familial PHPT
syndromes. The genetics of PHPT is usually monoclonal when a single gland is
involved and polyclonal when multiglandular disease is present. The genes that
have been implicated in PHPT include proto-oncogenes and tumour-suppressor genes.
Hypercalcaemia is the biochemical hallmark of PHPT. Usually, the concentration of
PTH is frankly increased but can remain within the normal range, which is
abnormal in the setting of hypercalcaemia. Normocalcaemic PHPT, a variant in
which the serum calcium level is persistently normal but PTH levels are increased
in the absence of an obvious inciting stimulus, is now recognized. The clinical
presentation of PHPT varies from asymptomatic disease (seen in countries where
biochemical screening is routine) to classic symptomatic disease in which renal
and/or skeletal complications are observed. Management guidelines have recently
been revised to help the clinician to decide on the merits of a parathyroidectomy
or a non-surgical course. This Primer covers these areas with particular
attention to the epidemiology, clinical presentations, genetics, evaluation and
guidelines for the management of PHPT.
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