孟××,男,5岁。因腹胀、腹部肿块,消瘦、鼻衄三年,浮肿、咳嗽3个月住院,患儿两岁时曾因左上腹逐渐增大及消瘦住院,当时片大右肋下3cm,脾大左肋下7cm,质硬,经检查诊断肿门结核,雅克什综合征,治疗二个月好转出院。兹后腹胀日趋加重,并伴鼻衄及腿痛,发育迟滞,近3个月咳嗽、浮肿再次入院。其父母体健系近亲婚配,一兄一姐均由黄染抽搐分别于生后第七、五天死亡,一弟二岁体健。体检:身长95cm,体重15kg,发 Meng × ×, male, 5 years old. Due to abdominal distension, abdominal mass, weight loss, epistaxis for three years, edema, cough 3 months hospitalization, children two years old was due to the left upper quadrant was gradually increased and weight hospitalized, then film large right rib 3cm, 7cm, hard quality, swollen check tuberculosis diagnosis, Jarks syndrome, the improvement of two months after treatment was discharged. Afterwards, abdominal distension is aggravating day by day, accompanied by epistaxis and leg pain, development retardation, cough and edema again in the past 3 months. Their parents, Department of Health, intimate marriage, one brother and one sister by yellow dye convulsions, respectively, after birth seventh, five days of death, a younger brother of two years of health. Physical examination: length 95cm, weight 15kg, hair