遗传性球形红细胞增多症9例诊治经验分析

Diagnosis and Treatment Experience of Nine Cases of Hereditary Spherocytosis

摘要: 目的：探讨外科及内科治疗对遗传性球形红细胞增多症(HS)患者的疗效及经验。方法：回顾性分析2015年1月至2024年9月期间我院收治的9例HS患者的临床资料，内容包括一般情况、实验室及影像学检查、术前诊断、手术方式及围手术期情况，并对术前、术后及随访阶段的相关血液学与生化指标进行比较分析。结果：外科组纳入7例连续性手术病例，年龄中位数为26岁(8~42岁)；2例仅行脾切除手术，5例行脾切除 + 胆囊切除术；术中出血量中位数为150 mL (30~400 mL)，术后住院天数中位数为8天(4~25天)；入院与出院相比，患者总胆红素与间接胆红素水平有明显下降(p = 0.016)；7例患者均获得随访，仅1例未切除胆囊患者术后出现胆囊结石伴急性胆囊炎，其余患者一般情况良好，肝功能、血常规正常，胆管结石无复发。内科组2例患者均为男性，表现为中至重度贫血及明显黄疸，骨髓红系增生活跃。经叶酸、促红细胞生成剂及对症支持治疗后，黄疸改善、红细胞计数升高，但血红蛋白改善有限。其中1例多次输血后18个月死于感染相关并发症，另1例随访良好。结论：HS患者进行外科治疗远期预后良好，且全脾切除术是目前最根本的治疗方法。HS的严重程度应在疾病稳定期进行评估，急性溶血期的实验室指标可能高估病情。对于轻型或中型HS患者，是否行外科手术应结合患者症状、生活质量及主观意愿，经多学科评估后个体化决定。对于HS患者，无症状性胆囊结石及无结石者均不推荐常规胆囊切除，即使合并肝硬化亦不支持预防性处理，应结合个体情况审慎评估。针对重度贫血的HS患者单纯内科治疗疗效有限，重症患者易复发。

Abstract: Objective: To explore the efficacy and experience of surgical and medical treatments in patients with hereditary spherocytosis (HS). Methods: A retrospective analysis was performed on clinical data of nine HS patients admitted to our hospital from January 2015 to September 2024. Data collected included general information, laboratory and imaging findings, preoperative diagnosis, surgical methods, and perioperative conditions. Hematological and biochemical indices were compared at preoperative, postoperative, and follow-up stages. Results: In the surgical group, seven consecutive patients underwent surgery, with a median age of 26 years (range, 8~42 years). Two patients underwent splenectomy alone, and five patients underwent splenectomy combined with cholecystectomy. The median intraoperative blood loss was 150 mL (range, 30~400 mL), and the median postoperative hospital stay was 8 days (range, 4~25 days). Compared with admission, total bilirubin and indirect bilirubin levels decreased significantly at discharge (p = 0.016). Among the seven patients followed up, only one patient who did not undergo cholecystectomy developed gallstones with acute cholecystitis postoperatively. The remaining patients were in good general condition, with normal liver function and blood counts, and no recurrence of biliary stones. In the medical group, two male patients presented with moderate to severe anemia and significant jaundice, with active erythroid hyperplasia in the bone marrow. After treatment with folic acid, erythropoiesis-stimulating agents, and supportive care, jaundice improved, and red blood cell counts increased, but hemoglobin levels showed limited improvement. One patient died of infection-related complications 18 months after multiple transfusions, while the other had a favorable outcome during follow-up. Conclusion: Surgical treatment offers a favorable long-term prognosis for HS patients, and total splenectomy remains the most definitive treatment. The severity of HS should be assessed during the stable phase of the disease, as laboratory indices during acute hemolytic episodes may overestimate the condition. For mild to moderate HS, the decision to perform surgery should be individualized based on patient symptoms, quality of life, and personal preference after multidisciplinary evaluation. Routine cholecystectomy is not recommended for asymptomatic patients with or without gallstones, and prophylactic surgery is not indicated even in cases with concurrent liver cirrhosis; decisions should be individualized. Medical treatment alone has limited efficacy for patients with severe anemia, and severe cases are prone to relapse.