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

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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Bibliographic Details
Main Authors: Papailiou Stayroula, Vlachopapadopoulou Elpis Athina, Sertedaki Amalia, Maritsi Despoina, Syggelos Nikolaos, Syggelou Angeliki
Format: Article
Language:English
Published: Sciendo 2020-07-01
Series:Endocrine Regulations
Subjects:
aldosterone
cyp11b2 gene
hyponatremia
hyperkalemia
metabolic acidosis
faltering growth
Online Access:https://doi.org/10.2478/enr-2020-0025

Internet

https://doi.org/10.2478/enr-2020-0025

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