| 汪增秀,赵宏宇,梁子豪,等.遗传性球形红细胞增多症 SLC4A1基因新发突变 1例[J].安徽医药,2025,29(11):2199-2202. |
| 遗传性球形红细胞增多症 SLC4A1基因新发突变 1例 |
| A case report of a de novo SLC4A1 gene mutation in hereditary spherocytosis |
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| DOI：10.3969/j.issn.1009-6469.2025.11.016 |
| 中文关键词: 遗传性球形红细胞增多症 基因突变 SLC4A1 脾切除术 黄疸 |
| 英文关键词: Hereditary spherocytosis Gene mutation SLC4A1 Splenectomy Jaundice |
| 基金项目:南京市第二医院后备人才项目( HBRCYL04) |
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| 中文摘要: |
| 目的探索 1例遗传性球形红细胞增多症的诊治经验。方法总结南京市第二医院 2022年 7月收治的 1例遗传性球形红细胞增多症病人的诊治过程。结果男性， 32岁，主诉“双下肢水肿” 3个月，外院诊断梗阻性黄疸，给予抗感染、解痉、血浆置换等治疗效果不佳，入该院后查总胆红素为 1 201 μmol/L，网织红细胞为 8.69%，红细胞渗透脆性增高，外周血细胞涂片可见球形红细胞，全外显子基因测序检测到与表型相关的 SLC4A1基因变异 c.2404G>A，考虑诊断为遗传性球形红细胞增多症。 2022年 8月 26日全麻下行脾脏 +胆囊切除术，术后出现腹腔出血，低血容量休克，行剖腹探查止血术及两次行脾动脉造影及栓塞术，术后 3个月随访总胆红素降至 79 μmol/L，网织红细胞降至 1.34%。结论该例遗传性球形红细胞增多症 SLC4A1基因变异 c.2404G>A为新发突变。遗传性球形红细胞增多症发病表现复杂，容易漏诊、误诊，结合多种实验室检测方法及基因检测得以明确，脾脏切除是治疗关键，但须积极处理脾切除后的并发症。 |
| 英文摘要: |
| Objective To explore the diagnosis and treatment of a case of hereditary spherocytosis. Methods The diagnosis andtreatment process of a patient with hereditary spherocytosis admitted to The Second Hospital of Nanjing in July 2022 was summarized. Results A 32-year-old male presented with a chief complaint of "bilateral lower limb edema" for 3 months. He was diagnosed with ob-structive jaundice at another hospital, and received anti-infection, antispasmodic, plasma exchange, and other treatments with poor effi-cacy. After admission to our hospital, laboratory tests showed a total bilirubin of 1 201 μmol/L and a reticulocyte count of 8.69%. In-creased erythrocyte osmotic fragility was observed, and spherical red blood cells were seen on peripheral blood smear. Whole-exome se-quencing detected the SLC4A1 gene variant c.2404G>A associated with the phenotype, leading to a diagnosis of hereditary spherocyto-sis. Splenectomy and cholecystectomy were performed under general anesthesia on August 26, 2022. Postoperatively, the patient devel-oped abdominal hemorrhage and hypovolemic shock, requiring exploratory laparotomy for hemostasis and two sessions of splenic arteryangiography and embolization. At the 3-month follow-up, total bilirubin decreased to 79 μmol/L and the reticulocyte count dropped to 1.34%.Conclusions The SLC4A1 gene variant c.2404g>a in this case of hereditary spherocytosis is a new mutation. Hereditary sphe-rocytosis has complex clinical manifestations and is prone to missed or misdiagnosis. The condition can be confirmed by combiningvarious laboratory tests and genetic testing. Splenectomy is the key treatment, but postoperative complications must be actively man-aged. |
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