We describe a premature twin born at 30 wk of gestational age, affected with familial haemophagocytic lymphohistiocytosis. Two different mutations were identified in his DNA: one inherited from the mother and one from...We describe a premature twin born at 30 wk of gestational age, affected with familial haemophagocytic lymphohistiocytosis. Two different mutations were identified in his DNA: one inherited from the mother and one from the father. Haemophagocytosis had been confirmed in his twin brother, who died soon after birth, as well as in the re-evaluation of the autopsy of his older sister, who died 1 y earlier. At 26 d of age, chemotherapy and immune-suppressive treatment were started according to the HLH-94 protocol. At 6 mo of age, a bone marrow transplant from an HLA-identical, unrelated volunteer was performed. Now at 32 mo of age, the infant is healthy and without signs of graft-versus-host disease. Conclusion: This case report shows that immuno-chemotherapy and allogenic bone marrow transplant are feasible even in premature infants affected with familial haemophagocytic lymphohistiocytosis, which should be ruled out in unknown bleeding disorders of neonates.展开更多
目的:探讨活体供肾切取术对供体生理和社会心理健康的影响,进一步推动活体亲属供肾移植的发展。方法:回顾性总结分析本科42例亲属肾供体病死率、术后并发症及肾功能、血压、尿蛋白情况。同时根据SF-36健康调查(36-item short- form heal...目的:探讨活体供肾切取术对供体生理和社会心理健康的影响,进一步推动活体亲属供肾移植的发展。方法:回顾性总结分析本科42例亲属肾供体病死率、术后并发症及肾功能、血压、尿蛋白情况。同时根据SF-36健康调查(36-item short- form health survey)和改进的11条问卷题目的结果,从主观厅面分析供体供。肾切取后心理上的变化。结果:42例供体供肾切取术后病死率为0,手术前后肌酐水平分别为(60.1±12.5)mmol/L和(77.9±17.0)mmol/L,肌酐清除率分别为(107.6±2712)ml/ min和(75.9±24.1)mL/min,收缩压分别为123 mmHg和125 mmHg,舒张压分别为78 mmHg和79 mmHg,24 h尿蛋白分别为(0.06±0.1 1)g和(0.07±0.10)g。亲属肾供体SF-36健康调查分值高于一般中国人群。结论:活体亲属供肾切取术后病死率为零,血肌酐在正常范围内,血压在正常范围内,尿蛋白无增加。活体供肾切取术对供体社会心理无明显影响,供体生活质量无明显改变。展开更多
文摘We describe a premature twin born at 30 wk of gestational age, affected with familial haemophagocytic lymphohistiocytosis. Two different mutations were identified in his DNA: one inherited from the mother and one from the father. Haemophagocytosis had been confirmed in his twin brother, who died soon after birth, as well as in the re-evaluation of the autopsy of his older sister, who died 1 y earlier. At 26 d of age, chemotherapy and immune-suppressive treatment were started according to the HLH-94 protocol. At 6 mo of age, a bone marrow transplant from an HLA-identical, unrelated volunteer was performed. Now at 32 mo of age, the infant is healthy and without signs of graft-versus-host disease. Conclusion: This case report shows that immuno-chemotherapy and allogenic bone marrow transplant are feasible even in premature infants affected with familial haemophagocytic lymphohistiocytosis, which should be ruled out in unknown bleeding disorders of neonates.
