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Genetic testing for primary aldosteronism in SPAIN: Results from the SPAIN-ALDO Registry and review of the literature.

Marta Araujo-CastroJorge Grabiel RuizCésar GonzalvoCristina Lamas OliveiraPaola Parra RamírezPatricia Martín Marcos-RojasMiguel PajaCristina Robles LázaroTheodora MichalapouMaría TousMargarita GonzálezJosé María Recio CórdovaAnna CasterasPaula Fernández-ÁlvarezVerónica Barca TiernoPaolo Mulatero
Published in: The Journal of clinical endocrinology and metabolism (2024)
The genetic study of familial hyperaldosteronism is often scarce in real-world clinical practice, as 86% of patients with criteria to undergo genetic study were not evaluated in our cohort. Nevertheless, FH is an uncommon cause of PA, representing only 0.2% of cases in the SPAIN-ALDO Registry, although its prevalence may be as high as 4% among suspected cases might be studied.
Keyphrases
  • clinical practice
  • genome wide
  • risk factors
  • pulmonary embolism
  • copy number
  • dna methylation