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范可尼综合征是一种先天代谢病,是由先天性双肾畸形引起肾近球小管功能多发性障碍所致。国内未见报道,我科发现一例现报告如下。 [病例] 张某,女,14岁。因生长发育落后十二年,不能站立半年来就诊。 该患儿自2岁后生长发育落后于同龄儿,同时伴有饮食量少及便秘。自4岁会走后渐出现Ⅹ型腿。近一年出现大关节痛,伴发热(低热)。近6个月不能站立。患儿13岁时月经初潮,周期规律。无家族史。精神好。智力正常。被动坐,卧位。BP17.6/13.3kPa(140/100mmHg)。身长125cm,体重18kg,皮下脂肪(腹部)0.5cm。双眼角膜无明显结晶沉着。心肺正常,肝、脾不大。可见明显肋骨串珠,手镯,脚镯,Ⅱ度Ⅹ型腿。长骨有叩痛。第二性征发育正常。X线骨片:明显佝偻病改变。腹平片:左肾轮廓尚
Fanconi syndrome is a congenital metabolic disease caused by a congenital nephrotic renal proximal tubule dysfunction caused by multiple disorders. No reports of domestic, our department found a case report is as follows. [Case] Zhang, female, 14 years old. Due to the growth and development lagged behind twelve years, can not stand for half a year treatment. The children after 2 years old lagged behind the same age children, accompanied by less food and constipation. Since the 4-year-old will gradually emerge X-type legs. Large joint pain in recent years, with fever (fever). Nearly 6 months can not stand. Children 13 years old menarche, periodic pattern. No family history. Good spirit. Mental normal. Passive sitting, lying position. BP 17.6 / 13.3 kPa (140/100 mmHg). Body length 125cm, weight 18kg, subcutaneous fat (abdomen) 0.5cm. Corneal no obvious crystallization of both eyes. Cardiopulmonary normal, liver, spleen is not big. Visible rib beaded, bracelets, anklets, Ⅱ degree Ⅹ type legs. Long bones have percussion pain. Second sexual characteristics normal development. X-ray bone: obvious rickets changes. Abdominal plain film: the left kidney profile is still