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患儿,女,50天。因腹泻稀水便、双下肢浮肿入院。患儿系第二胎、第二产,30~+周出生;出生体重2.4kg。父母非近亲婚配;其母患类风湿性关节炎(RA),曾服用抗风湿类药物,但该次妊娠期间未用药。父母双方染色体为46XY和46XX。体检:BP9.86/5.33kPa,发育营养一般,阵阵尖声哭吵,颅骨软化,前囟平坦,双眼球欠灵活。心音有力,未闻杂音,两肺(-)。腹部膨隆,腹壁轻度水肿、静脉显露,腹水征(+)。全身浮肿明显,颜面部、双下肢可见凹性水肿。尿量150～210ml/24h。化验:尿蛋白+++,WBC少。血浆白蛋白10g以下/L,总蛋白17～19g/L,胆固醇3.72～6.11mmol/L,肝功能正常,AFP(-)。入院后经抗生素+激素、多次输血浆等治疗,情况未见好转,又出现阵咳,两肺闻及干、 湿罗音,全身
Children, women, 50 days. Diarrhea due to diarrhea, double lower extremity edema admitted. Children with a second child, the second birth, 30 ~ + weeks of birth; birth weight 2.4kg. Parents were married to non-relatives; their mother, suffering from rheumatoid arthritis (RA), had taken anti-rheumatic drugs but had not taken any medication during the pregnancy. Both parents chromosome 46XY and 46XX. Physical examination: BP9.86 / 5.33kPa, development and nutrition in general, bursts of crying noisy, skull softening, flat anterior bland, both eyes owed flexibility. Strong heart sounds, no unheard noise, both lungs (-). Abdominal bulging, mild abdominal wall edema, venous exposure, signs of ascites (+). Edema obvious body, face, lower extremity visible concave edema. Urine volume 150 ~ 210ml / 24h. Assay: urinary protein +++, WBC less. Plasma albumin 10g / L, total protein 17 ~ 19g / L, cholesterol 3.72 ~ 6.11mmol / L, normal liver function, AFP (-). After admission by antibiotics + hormones, multiple transfusion of plasma and other treatment, the situation did not improve, and the emergence of cough, lungs smell dry and wet rales, the whole body