AIM: Unless specifically treated (glucocorticoids in low doses), Familial Hyperaldosteronism Type I (FH-I) may result in early death from stroke. We report the successful application of a rapid, polymerase chain reaction (PCR)-based method of detecting the 'hybrid' 11 beta-hydroxylase (11 beta-OHase)/aldosterone synthase (AS) gene as a screening test for FH-I. METHODS: 'Long-PCR' was used to amplify, concurrently, a 4 kb fragment of AS gene (both primers AS-specific) and a 4 kb fragment of the hybrid gene (5' primer 11 beta-OHase-specific, 3' primer AS-specific) from DNA extracted from blood either collected locally or transported from elsewhere. Sample collection and transport were straightforward. This 4 kb fragment contains all the currently recognised hybrid gene 'crossover' points. RESULTS: Within a single family, long-PCR identified all 21 individuals known to have FH-I. Hypertension was corrected in all 11 treated with glucocorticoids. Nine with normal blood pressure are being closely followed for development of hypertension. Long-PCR cord blood analysis excluded FH-I in three neonates born to affected individuals. Long-PCR newly identified two other affected families: (1) a female (60 years) with a personal and family history of stroke and her normotensive daughter (40 years), and (2) a female (51 years) previously treated for primary aldosteronism with amiloride, her two hypertensive sons (14 and 16 years) and her hypertensive mother (78 years). No false negative or false positive results have yet been encountered. At least seven other centres have successfully performed this test. CONCLUSION: Long-PCR is a reliable method of screening individuals of all ages for FH-I.
AIM: Unless specifically treated (glucocorticoids in low doses), Familial Hyperaldosteronism Type I (FH-I) may result in early death from stroke. We report the successful application of a rapid, polymerase chain reaction (PCR)-based method of detecting the 'hybrid' 11 beta-hydroxylase (11 beta-OHase)/aldosterone synthase (AS) gene as a screening test for FH-I. METHODS: 'Long-PCR' was used to amplify, concurrently, a 4 kb fragment of AS gene (both primers AS-specific) and a 4 kb fragment of the hybrid gene (5' primer 11 beta-OHase-specific, 3' primer AS-specific) from DNA extracted from blood either collected locally or transported from elsewhere. Sample collection and transport were straightforward. This 4 kb fragment contains all the currently recognised hybrid gene 'crossover' points. RESULTS: Within a single family, long-PCR identified all 21 individuals known to have FH-I. Hypertension was corrected in all 11 treated with glucocorticoids. Nine with normal blood pressure are being closely followed for development of hypertension. Long-PCR cord blood analysis excluded FH-I in three neonates born to affected individuals. Long-PCR newly identified two other affected families: (1) a female (60 years) with a personal and family history of stroke and her normotensive daughter (40 years), and (2) a female (51 years) previously treated for primary aldosteronism with amiloride, her two hypertensive sons (14 and 16 years) and her hypertensive mother (78 years). No false negative or false positive results have yet been encountered. At least seven other centres have successfully performed this test. CONCLUSION: Long-PCR is a reliable method of screening individuals of all ages for FH-I.
Authors: A R Lafferty; D J Torpy; M Stowasser; S E Taymans; J P Lin; P Huggard; R D Gordon; C A Stratakis Journal: J Med Genet Date: 2000-11 Impact factor: 6.318
Authors: Gian Paolo Rossi; Valeria Bisogni; Alessandra Violet Bacca; Anna Belfiore; Maurizio Cesari; Antonio Concistrè; Rita Del Pinto; Bruno Fabris; Francesco Fallo; Cristiano Fava; Claudio Ferri; Gilberta Giacchetti; Guido Grassi; Claudio Letizia; Mauro Maccario; Francesca Mallamaci; Giuseppe Maiolino; Dario Manfellotto; Pietro Minuz; Silvia Monticone; Alberto Morganti; Maria Lorenza Muiesan; Paolo Mulatero; Aurelio Negro; Gianfranco Parati; Martino F Pengo; Luigi Petramala; Francesca Pizzolo; Damiano Rizzoni; Giacomo Rossitto; Franco Veglio; Teresa Maria Seccia Journal: Int J Cardiol Hypertens Date: 2020-04-15