目的探讨Chediak-Higashi综合征"加速期"的诊断与治疗。方法报道1例Chediak-Higashi综合征并结合检索国内文献,采集病例资料,依据不同治疗方案或预后分组比较临床指标。结果获得34篇文献,共计52例病例。男:女比例1.17:1;25%...目的探讨Chediak-Higashi综合征"加速期"的诊断与治疗。方法报道1例Chediak-Higashi综合征并结合检索国内文献,采集病例资料,依据不同治疗方案或预后分组比较临床指标。结果获得34篇文献,共计52例病例。男:女比例1.17:1;25%患者有家族史;25.8%患者父母近亲结婚。92.3%患者因发热就诊,多有反复感染病史,97.9%皮肤或毛发色素异常;78.8%淋巴结增大,86.5%脾脏增大,86.5%肝脏增大。64.2%患者血常规两系以上异常。所有病例血涂片或骨髓检查可见白细胞胞浆内巨大包涵体。化疗组与未化疗组比较,治疗好转率(100%vs 50%,P=0.005)。治疗无效/死亡组与好转组比较,年龄(岁)(1.42±1.30 vs 3.61±1.81 P=0.0016),脾脏(cm)(6.1±3.4vs 3.5±2.1,P=0.02),肝脏(cm)(4.3±2.4 vs 3.0±1.4,P=0.097),血常规两系降低比例(66.7%vs 55.6%,P=0.58)。结论大部分CHS患者表现为反复发热,肝、脾、淋巴结肿大,血常规两系以上异常,不足以判断"加速期"。发病年龄可作为化疗的参考指征,婴儿期发病者死亡率高,化疗有利于控制病情。展开更多
We report a case of a 9-month-old girl diagnosed as heterozygous to the Chediak-Higashi syndrome (CHS) after the death of her four brothers, who had similar symptoms of severe anemia, recurrent infections, and multipl...We report a case of a 9-month-old girl diagnosed as heterozygous to the Chediak-Higashi syndrome (CHS) after the death of her four brothers, who had similar symptoms of severe anemia, recurrent infections, and multiple blood transfusions. Genetic counseling motivated by family history led to targeted genomic DNA analysis, revealing a pathogenic variant of the LYST gene (c.8373_8376del (p.leu2791phefs*7)) in a heterozygous state. The clinical case reviews the pathophysiology and treatment options for CHS, emphasizing the importance of early diagnosis given the life-threatening potential of the disease. The authors advocate for a multidisciplinary approach to management and highlight the potential of genetic counseling to prevent further mortality in families with CHS.展开更多
文摘目的探讨Chediak-Higashi综合征"加速期"的诊断与治疗。方法报道1例Chediak-Higashi综合征并结合检索国内文献,采集病例资料,依据不同治疗方案或预后分组比较临床指标。结果获得34篇文献,共计52例病例。男:女比例1.17:1;25%患者有家族史;25.8%患者父母近亲结婚。92.3%患者因发热就诊,多有反复感染病史,97.9%皮肤或毛发色素异常;78.8%淋巴结增大,86.5%脾脏增大,86.5%肝脏增大。64.2%患者血常规两系以上异常。所有病例血涂片或骨髓检查可见白细胞胞浆内巨大包涵体。化疗组与未化疗组比较,治疗好转率(100%vs 50%,P=0.005)。治疗无效/死亡组与好转组比较,年龄(岁)(1.42±1.30 vs 3.61±1.81 P=0.0016),脾脏(cm)(6.1±3.4vs 3.5±2.1,P=0.02),肝脏(cm)(4.3±2.4 vs 3.0±1.4,P=0.097),血常规两系降低比例(66.7%vs 55.6%,P=0.58)。结论大部分CHS患者表现为反复发热,肝、脾、淋巴结肿大,血常规两系以上异常,不足以判断"加速期"。发病年龄可作为化疗的参考指征,婴儿期发病者死亡率高,化疗有利于控制病情。
文摘We report a case of a 9-month-old girl diagnosed as heterozygous to the Chediak-Higashi syndrome (CHS) after the death of her four brothers, who had similar symptoms of severe anemia, recurrent infections, and multiple blood transfusions. Genetic counseling motivated by family history led to targeted genomic DNA analysis, revealing a pathogenic variant of the LYST gene (c.8373_8376del (p.leu2791phefs*7)) in a heterozygous state. The clinical case reviews the pathophysiology and treatment options for CHS, emphasizing the importance of early diagnosis given the life-threatening potential of the disease. The authors advocate for a multidisciplinary approach to management and highlight the potential of genetic counseling to prevent further mortality in families with CHS.
