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尼曼-匹克氏病(Niemann-Pick disease,NPD)是较少见的常染色体隐性遗传的脂质代谢异常病.国外病例以犹太人较多,自1959年起我国亦陆续报道。我院儿科见到1例非神经型尼曼-匹克氏病,报告如下。病历摘要患儿女,1(1/2)岁。系足月妊娠,一胎,一产,顺产,其父母非近亲婚配,身体健康,无遗传病史。自生后6~7个月始腹泻黄稀水样便,2~3次/日,8~9个月始面黄。查体:发育营养一般,慢性病容,皮肤颜色稍黄,无出血点,全身浅表淋巴结无肿大,呼吸平稳,无紫绀。心音有力,心率98次/分,律整,无杂音,双肺呼吸音粗,未闻及干湿性罗音。腹胀明显,脾在左肋下6cm,质韧。肝在右
Niemann-Pick disease (NPD) is a rare autosomal recessive dyslipidemia. There are more Jews in foreign countries, and our country has reported it since 1959. Pediatrics in our hospital to see a case of non-neuronal Niemann-Pick’s disease, the report is as follows. Medical records with children, 1 (1/2) years old. Department of full-term pregnancy, a child, a birth, delivery, their parents non-relatives marriage, good health, history of no genetic disease. After 6 to 7 months since the birth of diarrhea yellow watery stools, 2 to 3 times / day, 8 to 9 months before the surface yellow. Examination: developmental nutrition in general, chronic disease, skin color slightly yellow, no bleeding, systemic superficial lymph nodes without swelling, smooth breathing, no cyanosis. Strong heart sounds, heart rate 98 beats / min, law, no noise, lung breath sounds coarse, unheard-of and wet and dry rales. Significant abdominal distension, spleen in the left rib 6cm, quality toughness. The liver is on the right