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家系1 先证者(Ⅲ_6)女,8岁。自幼间歇性巩膜、皮肤黄染。每次发作3～50天,多于发热时黄染加重,口服鲁米那后症状减轻。除黄疸外,无其他不适,大小便颜色正常。第1胎第1产,足月顺产,有生理性黄疸史,无肝炎接触史。父母非近亲结婚,其母孕期健康。体检:生长发育正常,巩膜及全身皮肤黄染。心肺(一),肝剑突下1cm,软,无压痛,肋下未触及。实验室检查:(1)黄疸期:黄疸指数15～35U,
Family 1 proband (Ⅲ_6) Female, 8 years old. Since childhood, intermittent sclera, skin yellow dye. Each episode 3 to 50 days, more than yellow fever when exacerbations, oral administration of luminal reduce symptoms. In addition to jaundice, no other discomfort, urine color normal. The first birth of the first child, full term spontaneous, history of physiological jaundice, no history of hepatitis exposure. Parents non-relatives get married, their mothers during pregnancy. Physical examination: normal growth and development, sclera and whole body skin yellow dye. Cardiopulmonary (A), liver xiphoid 1cm, soft, no tenderness, ribs did not touch. Laboratory tests: (1) jaundice: jaundice index 15 ~ 35U,