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本病罕见,由常染色体隐性遗传引起,胎儿期即可发病,多数有明显家族史,病情严重,予后恶劣,多于生后半年至一年内死亡。现将所见一例报告如下。 焦×,男性,34天龄。因双下肢浮肿三周,咳嗽一周于1983年7月入院。患儿生后第6天腹部肿大,11天时双足浮肿,逐渐延伸至腹壁。低烧,食纳可,大便黄稀量少,无脓血及粘液,7～8次/日。入院前一周咳嗽,口周发青,哭声微弱。患儿为第二胎足月顺产,宫内窘迫,生后无窒息,出生体重2950克,羊水绿色量多,脐带及胎盘均糜烂,胎盘重480克。否认传染病接触史。其母首次妊娠两个月时不明原因流产。本患儿出生前其母血压偏高,双下肢浮肿。家族中他人均无特殊,父母非近亲婚配。查体:体
The disease is rare, caused by autosomal recessive inheritance, the fetus can be onset, most have a clear family history, the condition is serious, given after the harsh, more than half a year after birth to a year of death. Now see a case report as follows. Focal x, male, 34 days old. Due to swelling of both lower extremities for three weeks, coughing a week in July 1983 admitted. Children with abdominal enlargement on the 6th day after birth, bipolar edema on day 11, gradually extended to the abdominal wall. Low-calorie, eat satisfied, less stool yellow thin, no purulent blood and mucus, 7 to 8 times / day. One week before admission cough, mouth bluish, crying weak. Children with full-term second-term fetus, intrauterine distress, after birth without asphyxia, birth weight 2950 grams, the amount of amniotic fluid, umbilical cord and placental erosion, placental weight 480 grams. Denied the history of contagious diseases. Her mother aborted for two months before her first pregnancy. The children before birth, high blood pressure, lower extremity edema. No other family members, parents and non-relatives of marriage. Physical examination: body