Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1087-1090, 2021.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-922003
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS).@*METHODS@#For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes.@*RESULTS@#The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls.@*CONCLUSION@#The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fragmentos de Peptídeos
/
Osso e Ossos
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Biomarcadores
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Osteocalcina
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Colágeno Tipo I
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Síndrome de Gitelman
/
Membro 3 da Família 12 de Carreador de Soluto
/
Genótipo
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo