哈特纳普病的临床表现。没有尿氨基酸或任何其他确定的代谢紊乱(一个新的实体)。

Q4 Medicine
E R Da Gloria, J G Assunção, M A Costa
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引用次数: 0

摘要

Harthnup病的临床表现没有氨基酸尿症或其他确定的代谢紊乱(新实体?)作者报告1例合并哈特纳普病的患者,哈特纳普病是一种罕见的常染色体隐性代谢障碍,以色氨酸和其他中性氨基酸通过空肠粘膜和肾小管运输缺陷引起的典型氨基酸尿症为特征,临床表现为光敏性糙皮样皮炎、智力迟钝和间歇性小脑性共济失调。实验室结果并没有证实Hartnup氨基酸性尿症,也没有其他证实其临床表现的代谢变化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].

Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.

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来源期刊
自引率
0.00%
发文量
20
期刊介绍: La Revista Medicina Cutánea Ibero-Latino-Americana se adhiere a los “Requisitos de uniformidad para manuscritos presentados para publicación en revista biomédicas” elaborados por el Comité Internacional de Editores de Revista Médicas
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