A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report
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 f...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-023-04092-0 |
| _version_ | 1797811280848879616 |
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| author | Yafeng Wang Linlin Liu Dandan Liu Wei Liu |
| author_facet | Yafeng Wang Linlin Liu Dandan Liu Wei Liu |
| author_sort | Yafeng Wang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T07:21:21Z |
| format | Article |
| id | doaj.art-8f0d9940ac0b4f43820580ad9220479d |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-13T07:21:21Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-8f0d9940ac0b4f43820580ad9220479d2023-06-04T11:38:35ZengBMCBMC Pediatrics1471-24312023-05-012311410.1186/s12887-023-04092-0A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case reportYafeng Wang0Linlin Liu1Dandan Liu2Wei Liu3Department of Hematology and Oncology, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Hematology and Oncology, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Electrocardiogram, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalDepartment of Hematology and Oncology, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s HospitalAbstract 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.https://doi.org/10.1186/s12887-023-04092-0Hereditary spherocytosisChildrenANK1MutationBiliary obstruction |
| spellingShingle | Yafeng Wang Linlin Liu Dandan Liu Wei Liu A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report BMC Pediatrics Hereditary spherocytosis Children ANK1 Mutation Biliary obstruction |
| title | A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report |
| title_full | A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report |
| title_fullStr | A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report |
| title_full_unstemmed | A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report |
| title_short | A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report |
| title_sort | de novo ank1 mutation in a childhood hereditary spherocytosis a case report |
| topic | Hereditary spherocytosis Children ANK1 Mutation Biliary obstruction |
| url | https://doi.org/10.1186/s12887-023-04092-0 |
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