Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children.
J Pediatr Endocrinol Metab
; 37(6): 532-535, 2024 Jun 25.
Article
em En
| MEDLINE
| ID: mdl-38736368
ABSTRACT
OBJECTIVES:
To investigate albumin (ALB) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH).METHODS:
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.RESULTS:
In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene.CONCLUSIONS:
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hipertireoxinemia Disalbuminêmica Familiar
/
Albumina Sérica Humana
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2024
Tipo de documento:
Article