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[安德森氏病。关于一例新病例]

[Anderson's disease. Apropos of a new case].

作者信息

Polanco I, Mellado M J, Lama R, Larrauri J, Zapata A, Redondo E, Vázquez C

出版信息

An Esp Pediatr. 1986 Mar;24(3):185-8.

PMID:3706925
Abstract

A new case of Anderson's disease in a 3-month-old black female infant is presented. This diagnosis should be considered in infants with chronic diarrhoea, fatty stools, failure to gain weight which may be present from birth, low serum cholesterol concentration (less than 70 mg/ml), low plasma triglyceride levels, and hypobetalipoproteinaemia. However, suspicion of diagnosis clinically can be certainly verified by intestinal biopsy showing characteristic epithelial cell pattern. Steatorrhoea may be effectively treated by substituting medium for long-chain triglycerides in the diet. This disorder needs to be distinguished from familial hypobetalipoproteinaemia as well as abetalipoproteinaemia, and it prognosis is good, because of absence of acanthocytosis, neurological involvement and ocular lesions.

摘要

本文报告了一名3个月大的黑人女婴患安德森病的新病例。对于患有慢性腹泻、脂肪便、出生时可能就存在体重不增、血清胆固醇浓度低(低于70mg/ml)、血浆甘油三酯水平低以及低β脂蛋白血症的婴儿,应考虑这一诊断。然而,临床上对诊断的怀疑可通过肠道活检显示特征性上皮细胞模式得到明确证实。通过在饮食中用中链甘油三酯替代长链甘油三酯,可有效治疗脂肪泻。这种疾病需要与家族性低β脂蛋白血症以及无β脂蛋白血症相鉴别,并且由于不存在棘红细胞增多症、神经受累和眼部病变,其预后良好。

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