患儿男,6岁半,因皮肤黑6年余入院。第一胎,第一产,足月顺产,出生时无特殊,体格及智力发育与同龄儿相仿,家族中无类似病人。自出生后皮肤发黑,入院前20天皮黑加重,伴不规则发热,无呕吐、腹泻及多饮、多尿现象,曾在外院查尿常规示“蛋白卅”2天后转为阴性。入院体检:神清,精神好,自动体位,检查合作,语言流利,营养发育良好,皮肤黝 Children male, 6 years and a half, due to skin black more than 6 years admitted to hospital. The first child, the first birth, term full-term birth, no special at birth, physical and mental development similar to their children, no similar family of patients. Since the birth of the skin black, 20 days before admission, dark skin, with irregular fever, no vomiting, diarrhea and polydipsia, polyuria phenomenon, once outside the hospital urine check showed “protein” 2 days later turned negative. Admission medical examination: God clear, good spirit, automatic position, check cooperation, language fluently, well-developed nutrition, skin dark