真性红细胞增多症误漏诊一例诊疗回顾

摘要

Objective To investigate the diagnosis of polycythemia vera(PV) with related complications so as to a-void mistakes. Methods Clinical data of a PV patient was retrospectively analyzed. Results An elderly man first diagnosed as having diabetes, hypertension and HBV induced cirrhosis for many years was admitted for cough, expectoration and fever for 2 days. He had been admitted 3 times for respiratory track infections, spontaneous chest wall hematoma and hypoglycemia last year. CBC tests showed that his red cells was 7. 49-8. 68 × 1012 / L, hemoglobin was 182-201 g/ L, white cells was 9. 72-19. 81 × 109 / L. CBC results, gene mutation test and bone marrow smears confirmed the diagnosis of PV with diabetes. DNA quantification proved that HBC was not the cause of cirrhosis. After treatment of hydroxyurea, the patient's CBC got a complete remission in a follow-up of 6 months. Conclusion PV may be complicated with diabetes or hypertension and liver dysfunc-tion. Bone marrow smears and gene mutation test are the gold standards of diagnosis. Early diagnosis and correct therapy are important for prognosis.%目的：探讨真性红细胞增多症及相关并发症的诊断思路,以减少误诊漏诊。方法回顾分析1例真性红细胞增多症的临床资料。结果本例为老年男性,因咳嗽、咳痰伴发热2 d 入院。患糖尿病、高血压病、“乙肝肝硬化”多年,近1年内曾因“呼吸道感染、自发胸壁血肿、糖尿病低血糖”多次住院,多次行血常规检查：红细胞(7.49~8.68)×1012/ L,血红蛋白182~201 g/ L,白细胞(9.72~19.81)×109/ L。对比患者多次血常规检查结果发现血红蛋白及白细胞均明显增高,经骨髓细胞学及基因突变检测确诊为真性红细胞增多症并糖尿病,并经乙肝 DNA 定量检测除外病毒性肝硬化。予羟基脲治疗6个月后随访血常规指标达到完全缓解标准。结论真性红细胞增多症可能合并糖尿病、高血压及肝损害,临床应提高对本病复杂临床表现的认识,骨髓细胞学及基因突变检测是确诊的金标准,及早确诊、正确治疗有助于改善预后。