A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report

BMC Pediatrics

Case Report

Dandan Liu¹  Wei Liu²  Linlin Liu²  Yafeng Wang³ 

[1] Department of Electrocardiogram, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, 450018, Zhengzhou, China;Department of Hematology and Oncology, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, No.33 Longhuwaihuan East Road, 450018, Zhengzhou, China;Department of Hematology and Oncology, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, No.33 Longhuwaihuan East Road, 450018, Zhengzhou, China;Henan Provincial Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated to Zhengzhou University, 450018, Zhengzhou, China;

关键词: Hereditary spherocytosis;    Children;    ANK1;    Mutation;    Biliary obstruction;   

DOI  :  10.1186/s12887-023-04092-0

 received in 2022-12-31, accepted in 2023-05-25,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundDue 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 presentationA 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.ConclusionThe 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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Fig. 17