Skip to main content
Log in

L’iperaldosteronismo primitivo: dalla genetica alla terapia

  • Rassegna
  • Published:
L'Endocrinologo Aims and scope

Sommario

L’iperaldosteronismo primitivo (PA) è la forma più frequente di ipertensione secondaria e i pazienti affetti presentano aumentato rischio di eventi cardio e cerebrovascolari rispetto agli ipertesi essenziali. I due sottotipi più comuni di PA sono l’adenoma producente aldosterone e l’iperplasia bilaterale, mentre più rare sono le forme familiari (FH-I, II, III). La causa molecolare dell’FH-I è rappresentata dal gene chimerico \(\mathit{CYP11}B\mathit{1} /B\mathit{2}\), mentre mutazioni germinali di KCNJ5 sono alla base dell’FH-III.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2

Bibliografia

  1. Funder JW, Carey RM, Fardella C et al. (2008) Case detection, diagnosis, and treatment of patients with primary aldosteronism: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 93:3266–3281

    Article  CAS  PubMed  Google Scholar 

  2. Milliez P, Girerd X, Plouin PF et al. (2005) Evidence for an increased rate of cardiovascular events in patients with primary aldosteronism. J Am Coll Cardiol 45:1243–1248

    Article  CAS  PubMed  Google Scholar 

  3. Monticone S, Viola A, Tizzani D et al. (2012) Primary aldosteronism: who should be screened. Horm Metab Res 44:163–169

    Article  CAS  PubMed  Google Scholar 

  4. Monticone S, Viola A, Rossato D et al. (2015) Adrenal vein sampling in primary aldosteronism: towards a standardised protocol. Lancet Diabetes Endocrinol 3:296–303

    Article  CAS  PubMed  Google Scholar 

  5. Lifton RP, Dluhy RG, Powers M et al. (1992) A chimeric \(11\upbeta \)-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355:262–265

    Article  CAS  PubMed  Google Scholar 

  6. Sukor N, Mulatero P, Gordon RD et al. (2008) Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. J Hypertens 26:1577–1582

    Article  CAS  PubMed  Google Scholar 

  7. Monticone S, Else T, Mulatero P et al. (2015) Understanding primary aldosteronism: impact of next generation sequencing and expression profiling. Mol Cell Endocrinol 399:311–320

    Article  CAS  PubMed  Google Scholar 

  8. Scholl UI, Goh G, Stölting G et al. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet 45:1050–1054

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Scholl UI, Stölting G, Nelson-Williams C et al. (2015) Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife 4:e06315

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Paolo Mulatero.

Ethics declarations

Conflitto di interesse

Gli autori Silvia Monticone, Martina Tetti, Franco Veglio e Paolo Mulatero dichiarano di non avere conflitti di interesse.

Consenso informato

Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi sugli animali

Gli autori di questo articolo non hanno eseguito studi sugli animali.

Additional information

Proposto da Emanuela Arvat.

Materiale elettronico supplementare

I link al materiale elettronico supplementare sono elencati qui sotto.

(DOC 28 kB)

(DOC 26 kB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Monticone, S., Tetti, M., Veglio, F. et al. L’iperaldosteronismo primitivo: dalla genetica alla terapia. L'Endocrinologo 17, 90–96 (2016). https://doi.org/10.1007/s40619-016-0194-x

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40619-016-0194-x

Parole chiave

Navigation