Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis

Objective. Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the...

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Auteurs principaux: Papailiou Stayroula, Vlachopapadopoulou Elpis Athina, Sertedaki Amalia, Maritsi Despoina, Syggelos Nikolaos, Syggelou Angeliki
Format: article
Langue:EN
Publié: Sciendo 2020
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Accès en ligne:https://doaj.org/article/989eb46130b54d04aed1020580a68511
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