A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report.
BMC Pediatr
; 23(1): 267, 2023 05 29.
Article
en En
| MEDLINE
| ID: mdl-37246216
ABSTRACT
BACKGROUND:
Due to the heterogeneity of the phenotype of Hereditary spherocytosis (HS) patients, some patients may have rare clinical complications such as biliary obstruction and ultra-high bilirubinemia. CASE PRESENTATION A 8-y-old boy presented to the emergency with complaints of anemia for 6 years and worsened abdominal pain and scleral yellowing of the skin for 2 days. Physical examination showed tenderness in the middle and upper abdomen and splenomegaly. Abdominal CT revealed biliary obstruction. Genetic analysis revealed a de novo mutation in the gene ANK1, HS with biliary obstruction was diagnosed. The surgery of bile duct exploration and T-tube drainage, and splenectomy were performed successively. This patient was followed up for 13 months after splenectomy, and his condition was stable.CONCLUSION:
The diagnosis of HS is not clinically difficult, and once a patient with HS is diagnosed, regular follow-up management and standardized treatment are required. Genetic testing is also needed to screen for other genetic disorders that may co-exist in patients with HS who do not have a good efficacy or who have a long-term chronic onset of jaundice.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Esferocitosis Hereditaria
/
Colestasis
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
Idioma:
En
Año:
2023
Tipo del documento:
Article