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La genetica dell’ipertensione arteriosa a bassa renina

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Riassunto

La scoperta delle forme monogeniche di ipertensione arteriosa ha rivoluzionato le conoscenze su meccanismi di regolazione della pressione. La forma più comune di ipertensione arteriosa, l’ipertensione essenziale, è il risultato di un complesso intreccio tra fattori genetici predisponenti e l’esposizione a fattori ambientali. Al contrario le forme monogeniche di ipertensione sono determinate da singole mutazioni geniche che sono minim am ente influenzate dai fattori ambientali. La maggior parte di queste forme di ipertensione sono legate ad alterazioni a carico del trasporto degli elettroliti nel nefrone distale o della sintesi e attività degli ormoni ad attività mineralcorticoide; queste an om alie determ inano, con un comune meccanismo patogenetico, un aum entato assorbimen to di sodio e cloro a carico del tubulo distale con una conseguente espansione di volume e quindi l’insorgenza dell’ipertensione arteriosa.

In pazienti giovani affetti da un’ipertensione severa associata ad anomalie biochimiche e ormonali e con una storia familiare di ipertensione arteriosa la diagnosi differenziale deve includere anche le forme monogeniche di ipertensione arteriosa. I test genetici, molti dei quali oggi considerati routinari, consentono di effettuare una diagnosi precisa e successivamente di iniziare una terapia specifica per queste forme di ipertensione che sono spesso trattabili.

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Authors and Affiliations

  1. Dipartimento di Scienze Mediche e Chirurgiche, U.O. di Endocrinologia, Univesità di Padova, Via Ospedale 105, 35128, Padova, Italia

    Giuseppe Opocher, Paola Sartorato, Mee Jung Mattarello & Franco Mantero

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  1. Giuseppe Opocher
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  2. Paola Sartorato
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  3. Mee Jung Mattarello
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  4. Franco Mantero
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Correspondence to Giuseppe Opocher.

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Opocher, G., Sartorato, P., Mattarello, M.J. et al. La genetica dell’ipertensione arteriosa a bassa renina. L’Endocrinologo 9, 62–68 (2008). https://doi.org/10.1007/BF03344610

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