Cic edizioni internazionali
Clinical Cases in mineral and bone metabolism

Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning.
A 2017 update

Mini-review, 60 - 70
doi: 10.11138/ccmbm/2017.14.1.060
Tag this article
Abstract
Full text PDF
Primary hyperparathyroidism (PHPT) is one of the most frequent endocrine disease in developed countries. It mainly occurs as sporadic cases (about 90-95% of cases), while only the remaining 5-10% is represented by familial inherited parathyroid disorders due to causative mutations in specific target genes. Clinical variability among the different familial parathyroid syndromes is generally linked to the specific mutated gene and it can predispose subjects to different manifestations of parathyroid pathology, various degrees of PHPT severity, persistence and/or after-surgery recurrences. Genetic tests is helpful in differential diagnosis favouring the recognition of the specific familial PHPT syndrome and, subsequently, in planning the most suitable surgical procedures and/or pharmacological interventions. Moreover, genetic test is important to recognise mutation carriers, within PHPT familial forms, even before the appearance of biochemical and/or clinical symptoms.
This review resumes general concepts about genetic diagnosis of PHPT in familial hereditary syndromes, specifically describing why, when, and which genetic screenings should be performed in every specific PHPTassociated parathyroid disease.

Vol. XIV (No. 1) 2017 January - April

  1. From the Editor-in-Chief
    Brandi M.L.
    doi: 10.11138/ccmbm/2017.14.1.011
  2. Low-dose diclofenac in patients with fragility fractures
    Vannucci L., Fossi C., Gronchi G., Brandi M.L.
    doi: 10.11138/ccmbm/2017.14.1.015
  3. Vitamin D levels and their impact on mineral metabolism in HIV infected patients: an exploratory study
    Mastaglia S., Watson D., Bello N., Fridman V., Stecher D., Oliveri B.
    doi: 10.11138/ccmbm/2017.14.1.018
  4. New quantitative ultrasound techniques for bone analysis at the distal radius in hip fracture cases: differences between femoral neck and trochanteric fractures
    Horii M., Fujiwara H., Sakai R., Sawada K., Mikami Y, Toyama S., Ozaki E., Kuriyama N., Kurokawa M., Kubo T.
    doi: 10.11138/ccmbm/2017.14.1.023
  5. Use of teriparatide off-label: our experience and review of literature
    Ciurlia E., Tranquilli Leali P., Doria C.
    doi: 10.11138/ccmbm/2017.14.1.028
  6. The effects of zoledronic acid on ECG: a prospective study on patients with bone metastatic cancer
    Demirtas D., Bilir C., Demirtas A.O., Engin H.
    doi: 10.11138/ccmbm/2017.14.1.035
  7. A comparison of two fixation methods for femoral trochanteric fractures: a new generation intramedullary system vs sliding hip screw
    Carulli C., Piacentini F., Paoli T., Civinini R., Innocenti M.
    doi: 10.11138/ccmbm/2017.14.1.041
  8. The use of cholecalciferol in patients with hip fracture
    Cianferotti L., Parri S., Gronchi G., Civinini R., Brandi M.L.
    doi: 10.11138/ccmbm/2017.14.1.048
  9. Evaluation of bone microstructure in CRPS-affected upper limbs by HR-pQCT
    Mussawy H., Schmidt T., Rolvien T., Rüther W., Amling M.
    doi: 10.11138/ccmbm/2017.14.1.054
  10. Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update
    Marini F., Cianferotti L., Giusti F., Brandi M.L.
    doi: 10.11138/ccmbm/2017.14.1.060
  11. Bone health in menopausal women: a role for General Practitioners
    Michieli R., Musto M.
    doi: 10.11138/ccmbm/2017.14.1.071
  12. Legg-Calvé-Perthes disease: classifications and prognostic factors
    Rampal V., Clément J.-L., Solla F.
    doi: 10.11138/ccmbm/2017.14.1.074
  13. Transient osteoporosis of the hip with a contralateral delayed involvement: a case report
    Iannò B., De Gori M., Familiari F., Pugliese T., Gasparini G.
    doi: 10.11138/ccmbm/2017.14.1.083
  14. A case report: hypercalcemia due to vitamin supplementation in a patient with neurofibromatosis
    Crone M., Fogarty K.
    doi: 10.11138/ccmbm/2017.14.1.087
  15. Is this a seizure?
    Franceschet G., Mazzucato M., Censi S., Simmini S., Boscaro M., Camozzi V.
    doi: 10.11138/ccmbm/2017.14.1.089
  16. Histological and micro Computed Tomography analysis of a femoral stress fracture associated with prolonged bisphosphonate use
    Somford M.P., van Ruijven L.J., Kloen P., Bakker A.D.
    doi: 10.11138/ccmbm/2017.14.1.092
  17. Primary hyperparathyroidism associated to thrombocytopenia: an issue to consider?
    De Keukeleire S., Muylle K., Tsoumalis G., Vermeulen S., Vogelaers D.
    doi: 10.11138/ccmbm/2017.14.1.097
  18. Acute severe diarrhoea and hyponatremia after zoledronic acid infusion: an acute phase reaction
    Shafi Kuchay M., Farooqui K.J., Mithal A.
    doi: 10.11138/ccmbm/2017.14.1.101
  19. LoCa LoPa myelopathy: is prevention better than cure?
    Pandita K.K., Razdan S., Pandita S.
    doi: 10.11138/ccmbm/2017.14.1.105
Last Viewed articles: la lista degli ultimi x visitati.
  1. Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning.
    A 2017 update

    Marini F., Cianferotti L., Giusti F., Brandi M.L.
    doi: 10.11138/ccmbm/2017.14.1.060
credits