Repeated yellowing of the skin and sclera for 2 years / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 77-80, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-351397
ABSTRACT
A two-year-old girl was admitted due to repeated yellowing of the skin and sclera for 2 years and had no other specific symptoms or signs. The use of phenobarbital could relieve the symptoms of jaundice. Multiple examinations showed increased indirect bilirubin levels, and the results of aminotransferases and liver imaging were normal. There was no evidence of hemolysis. The analysis of UGT1A1 gene in her family found that this child had double homozygous mutation of c.211G>A(G71R) and c.1456T>G(Y486D), which had been reported as the pathogenic mutation for Gilbert syndrome. Her parents carried double heterozygous mutation of G71R and Y486D and had no symptom of jaundice. The child was diagnosed as having Gilbert syndrome. It is concluded that as for patients with unconjugated hyperbilirubinemia which cannot be explained by liver damage and hemolysis, their family history should be investigated in detail and gene analysis should be performed as early as possible, in order to identify congenital bilirubin metabolic disorders.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Esclerótica
/
Piel
/
Glucuronosiltransferasa
/
Diagnóstico
/
Genética
/
Enfermedad de Gilbert
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Child, preschool
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2017
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS