Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in
Familial dysalbuminemic hyperthyroxinemia
R242H variation
albumin gene
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
14 May 2024
14 May 2024
Historique:
received:
13
11
2023
accepted:
17
04
2024
medline:
13
5
2024
pubmed:
13
5
2024
entrez:
13
5
2024
Statut:
aheadofprint
Résumé
To investigate ALB gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH). Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed. In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene. FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial ALB hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.
Identifiants
pubmed: 38736368
pii: jpem-2023-0506
doi: 10.1515/jpem-2023-0506
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Walter de Gruyter GmbH, Berlin/Boston.
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