Clinical and genetic studies of two cases of fructose-1,6-bisphosphatase deficiency caused by FBP1 mutations / 中国实用儿科杂志
Chinese Journal of Practical Pediatrics
; (12): 854-858, 2019.
Article
en Zh
| WPRIM
| ID: wpr-817941
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE: To analyze the clinical and molecular genetic characteristics of 2 cases of fructose-1,6-bisphosphatase deficiency in the same family to provide evidence for the precise treatment,genetic counseling and prenatal diagnosis.METHODS: Clinical data were collected from 2 patients with hypoglycemia encephalopathy,and molecular genetic analysis was performed using targeted capture next-generation sequencing. RESULTS: The 2 patients were siblings,the male proband was 7 years old,mainly manifested with convulsions after hunger or ingestion of a large amount of fructose,accompanied by ketoacidosis;clinical diagnosis was hypoglycemia encephalopathy,and fructose metabolism abnormalities was suspected. The younger brother was 4 years old,mainly showing hunger and sweating in the morning,stomach ache after eating fruit,and convulsion episode once after hunger. Next-generation sequencing results showed that the siblings had c.333+1_2 delinsTC and c.490 G>A compound heterozygous mutations in the FBP1 gene,and their parents were carriers with normal phenotype.The c.333+1_2 delins TCis a novel mutation,c.490 G>A is a reported pathogenic mutation,and the two patients were diagnosed with fructose-1,6-bisphosphatase deficiency genetically. CONCLUSION: For children with unexplained hypoglycemia,convulsions and metabolic acidosis,the fructose-1,6-bisphosphatase deficiency should be considered. Early genetic analysis is helpful to clarify the cause,make precise treatment and improve prognosis.
Texto completo:
1
Índice:
WPRIM
Tipo de estudio:
Prognostic_studies
Idioma:
Zh
Revista:
Chinese Journal of Practical Pediatrics
Año:
2019
Tipo del documento:
Article