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肝型糖原累积病(Von Gierke病)是一种罕见的常染色体隐性遗传性疾病。现报告一例。 患儿,女,3岁。住院号820801。因腹部进行性增大伴疲乏无力3年,于82年4月入院。患儿系第一胎,足月顺产,母乳喂养。平时经常感冒发热。曾诊断为佝偻病。否认肝炎接触史。父母非近亲婚配。体检:矮小,身长72.5cm,体重10.5Kg,营养发育差,头发稀疏,黄色。前囱巳闭。巩膜、皮肤无黄染,浅表淋巴结无肿大,四肢细小。心率1O8次/分,律齐,无杂音。肺(一)。腹部膨隆,尤以右上腹为著。上腹扪及包块,
Liver glycogen storage disease (Von Gierke disease) is a rare autosomal recessive disease. Now report a case. Children, female, 3 years old. Hospital number 820801. Because of the progressive increase in the abdomen with fatigue and weakness for 3 years, admitted in April 82, April. Children with the first child, full-term natural delivery, breastfeeding. Usually cold and fever. Had diagnosed as rickets. Denied the history of hepatitis exposure. Parents non-relatives marriage. Physical examination: short, length 72.5cm, weight 10.5Kg, poor nutrition, hair sparse, yellow. Before the chimney closed. Sclera, skin without yellow dye, superficial lymph nodes without swelling, limbs small. Heart rate 1O8 times / min, law Qi, no noise. Lung (a). Abdominal bulge, especially with the right upper abdomen. Abdominal palpable mass,