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我科于1982年3月诊治先天性高铁血红蛋白血症两例(系同胞兄弟),现报告如下。 例1男,20岁,未婚,技术员。患者生后全身皮肤发绀,尤以唇、舌、指、趾甲床为明显,20年来扑续不退,剧烈活动后发绀加重,伴有头晕、头痛、胸闷痛、短暂休息后上述症状消失。无呼吸困难及浮肿。生后两个月开始定期在专科医院检查,疑诊为先天性心脏病(法鲁氏四联症或部分大血管错位、肺静脉畸形引流)并建议作心导管检查,因患者自觉无明显不适而未作。8岁前常患气管炎。家族史:兄弟三人,一弟弟有轻度发绀(例2)。其父亲16岁前面色亦微绀,后恢复正常。
Our department in March 1982 diagnosis and treatment of congenital methemoglobinemia in two cases (siblings), are as follows. Example 1 Male, 20 years old, single, technician. Patients with systemic skin cyanosis after birth, especially in the lips, tongue, fingers, nail bed is obvious, 20 years of continuous non-refundable, aggravating cyanosis after intense activity, accompanied by dizziness, headache, chest pain, after a brief rest the above symptoms disappear. No breathing difficulties and edema. Two months after birth, regular specialist hospital examination, suspected congenital heart disease (tetralogy of Fallot or some major vascular malposition, pulmonary venous anomalies drainage) and recommended for cardiac catheterization, because the patient consciously no obvious discomfort Not made. 8 years old often suffer from bronchitis. Family history: three brothers, a brother with mild cyanosis (Example 2). His father was slightly cyanotic before age 16 and returned to normal.