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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Autores principales:	Papailiou Stayroula, Vlachopapadopoulou Elpis Athina, Sertedaki Amalia, Maritsi Despoina, Syggelos Nikolaos, Syggelou Angeliki
Formato:	article
Lenguaje:	EN
Publicado:	Sciendo 2020
Materias:	aldosterone cyp11b2 gene hyponatremia hyperkalemia metabolic acidosis faltering growth Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/989eb46130b54d04aed1020580a68511
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spelling	oai:doaj.org-article:989eb46130b54d04aed1020580a685112021-12-02T16:41:14ZAldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis1336-032910.2478/enr-2020-0025https://doaj.org/article/989eb46130b54d04aed1020580a685112020-07-01T00:00:00Zhttps://doi.org/10.2478/enr-2020-0025https://doaj.org/toc/1336-0329Objective. 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 occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offsprings.Papailiou StayroulaVlachopapadopoulou Elpis AthinaSertedaki AmaliaMaritsi DespoinaSyggelos NikolaosSyggelou AngelikiSciendoarticlealdosteronecyp11b2 genehyponatremiahyperkalemiametabolic acidosisfaltering growthDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENEndocrine Regulations, Vol 54, Iss 3, Pp 227-229 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	aldosterone cyp11b2 gene hyponatremia hyperkalemia metabolic acidosis faltering growth Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	aldosterone cyp11b2 gene hyponatremia hyperkalemia metabolic acidosis faltering growth Diseases of the endocrine glands. Clinical endocrinology RC648-665 Papailiou Stayroula Vlachopapadopoulou Elpis Athina Sertedaki Amalia Maritsi Despoina Syggelos Nikolaos Syggelou Angeliki Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
description	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 occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offsprings.
format	article
author	Papailiou Stayroula Vlachopapadopoulou Elpis Athina Sertedaki Amalia Maritsi Despoina Syggelos Nikolaos Syggelou Angeliki
author_facet	Papailiou Stayroula Vlachopapadopoulou Elpis Athina Sertedaki Amalia Maritsi Despoina Syggelos Nikolaos Syggelou Angeliki
author_sort	Papailiou Stayroula
title	Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
title_short	Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
title_full	Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
title_fullStr	Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
title_full_unstemmed	Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
title_sort	aldosterone synthase deficiency type ii: an unusual presentation of the first greek case reported with confirmed genetic analysis
publisher	Sciendo
publishDate	2020
url	https://doaj.org/article/989eb46130b54d04aed1020580a68511
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Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis

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