目的分析遗传性血管性水肿(HAE)患者临床特点,总结 HAE 发病规律及临床表现模式。方法通过临床问诊、病历查阅、电话随访、家系调查等方法回顾性分析40个 HAE 家系133例患者临床及实验室资料。结果 (1)临床表现:所有患者均有肢体和/或...目的分析遗传性血管性水肿(HAE)患者临床特点,总结 HAE 发病规律及临床表现模式。方法通过临床问诊、病历查阅、电话随访、家系调查等方法回顾性分析40个 HAE 家系133例患者临床及实验室资料。结果 (1)临床表现:所有患者均有肢体和/或颜面、生殖器水肿史。89例(66.9%)患者病程中出现过喉水肿,有4例患者曾经因喉水肿引起的窒息行气管切开术。102例(76.7%)患者有腹部症状包括轻微腹部不适,甚至难以耐受的腹部绞痛。对就诊时正处于腹痛发作期的6例患者行腹部 B 超检查,均发现有腹水。(2)发病频率:未经诊治时,100例(75.2%)患者发病频率≤每月1次,31例(23.3%)患者每月发病1～3次,仅2例患者发病频率≥每月4次,即每周发病1～2次。(3)家族史:8例无明确家族史。(4)类型:133例患者中130例为Ⅰ型 HAE(HAE-Ⅰ),仅1个家系中的3例患者 C1-INH 含量略高于正常,C1-INH 功能为正常值的2%,诊断为Ⅱ型 HAE(HAE-Ⅱ)。(5)长期预防性治疗:本研究中58例(43.6%)采用口服达那唑行长期预防性治疗,对所有患者都能起到预防发作的作用,大多数患者对达那唑耐受良好。结论 (1)遗传性血管水肿是一种罕见的常染色体显性遗传病。(2)我国 HAE-Ⅱ罕 S 见,跟国外报道似有不同。(3)长期应用达那唑治疗可有效预防遗传性血管水肿发作,患者耐受性好。展开更多
Hemophagocytic lymphohistiocytosis(HLH) is a hyperinflammatory syndrome that develops as a primary(familial/hereditary) or secondary(non-familial/hereditary) disease characterized in the majority of the cases by hered...Hemophagocytic lymphohistiocytosis(HLH) is a hyperinflammatory syndrome that develops as a primary(familial/hereditary) or secondary(non-familial/hereditary) disease characterized in the majority of the cases by hereditary or acquired impaired cytotoxic T-cell(CTL) and natural killer responses. The molecular mechanisms underlying impaired immune homeostasis have been clarified, particularly for primary diseases. Familial HLH(familial hemophagocytic lymphohistiocytosis type 2-5, Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2) develops due to a defect in lytic granule exocytosis, impairment of(signaling lymphocytic activation molecule)-associated protein, which plays a key role in CTL activity [e.g., X-linked lymphoproliferative syndrome(XLP) 1], or impairment of X-linked inhibitor of apoptosis, a potent regulator of lymphocyte homeostasis(e.g., XLP2). The development of primary HLH is often triggered by infections, but not in all. Secondary HLH develops in association with infection, autoimmune diseases/rheumatological conditions and malignancy. The molecular mechanisms involved in secondary HLH cases remain unknown and the pathophysiology is not the same as primary HLH. For either primary or secondary HLH cases, immunosuppressive therapy should be given to control the hypercytokinemia with steroids, cyclosporine A, or intravenous immune globulin, and if primary HLH is diagnosed, immunochemotherapy with a regimen containing etoposide or anti-thymocyte globulin should be started. Thereafter, allogeneic hematopoietic stem-cell transplantation is recommended for primary HLH or secondary refractory disease(especially EBVHLH).展开更多
文摘目的分析遗传性血管性水肿(HAE)患者临床特点,总结 HAE 发病规律及临床表现模式。方法通过临床问诊、病历查阅、电话随访、家系调查等方法回顾性分析40个 HAE 家系133例患者临床及实验室资料。结果 (1)临床表现:所有患者均有肢体和/或颜面、生殖器水肿史。89例(66.9%)患者病程中出现过喉水肿,有4例患者曾经因喉水肿引起的窒息行气管切开术。102例(76.7%)患者有腹部症状包括轻微腹部不适,甚至难以耐受的腹部绞痛。对就诊时正处于腹痛发作期的6例患者行腹部 B 超检查,均发现有腹水。(2)发病频率:未经诊治时,100例(75.2%)患者发病频率≤每月1次,31例(23.3%)患者每月发病1～3次,仅2例患者发病频率≥每月4次,即每周发病1～2次。(3)家族史:8例无明确家族史。(4)类型:133例患者中130例为Ⅰ型 HAE(HAE-Ⅰ),仅1个家系中的3例患者 C1-INH 含量略高于正常,C1-INH 功能为正常值的2%,诊断为Ⅱ型 HAE(HAE-Ⅱ)。(5)长期预防性治疗:本研究中58例(43.6%)采用口服达那唑行长期预防性治疗,对所有患者都能起到预防发作的作用,大多数患者对达那唑耐受良好。结论 (1)遗传性血管水肿是一种罕见的常染色体显性遗传病。(2)我国 HAE-Ⅱ罕 S 见,跟国外报道似有不同。(3)长期应用达那唑治疗可有效预防遗传性血管水肿发作,患者耐受性好。
文摘Hemophagocytic lymphohistiocytosis(HLH) is a hyperinflammatory syndrome that develops as a primary(familial/hereditary) or secondary(non-familial/hereditary) disease characterized in the majority of the cases by hereditary or acquired impaired cytotoxic T-cell(CTL) and natural killer responses. The molecular mechanisms underlying impaired immune homeostasis have been clarified, particularly for primary diseases. Familial HLH(familial hemophagocytic lymphohistiocytosis type 2-5, Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2) develops due to a defect in lytic granule exocytosis, impairment of(signaling lymphocytic activation molecule)-associated protein, which plays a key role in CTL activity [e.g., X-linked lymphoproliferative syndrome(XLP) 1], or impairment of X-linked inhibitor of apoptosis, a potent regulator of lymphocyte homeostasis(e.g., XLP2). The development of primary HLH is often triggered by infections, but not in all. Secondary HLH develops in association with infection, autoimmune diseases/rheumatological conditions and malignancy. The molecular mechanisms involved in secondary HLH cases remain unknown and the pathophysiology is not the same as primary HLH. For either primary or secondary HLH cases, immunosuppressive therapy should be given to control the hypercytokinemia with steroids, cyclosporine A, or intravenous immune globulin, and if primary HLH is diagnosed, immunochemotherapy with a regimen containing etoposide or anti-thymocyte globulin should be started. Thereafter, allogeneic hematopoietic stem-cell transplantation is recommended for primary HLH or secondary refractory disease(especially EBVHLH).
