58岁首次出现且家族研究呈阳性的冈瑟红细胞生成性血卟啉病。
Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.
作者信息
Pain R W, Welch F W, Woodroffe A J, Handley D A, Lockwood W H
出版信息
Br Med J. 1975 Sep 13;3(5984):621-3. doi: 10.1136/bmj.3.5984.621.
Abstract
Erythropoietic uroporphyria of Gunther was seen in a 58-year-old man who presented with photosensitivity, haemolytic anaemia, and classical laboratory findings. Family studies showed five asymptomatic relatives with erythrocyte uroporphyrin concentrations in the probable latent heterozygote range.
摘要
58岁男性被诊断为冈瑟红细胞生成性血卟啉病，其表现为光敏性、溶血性贫血及典型实验室检查结果。家族研究显示，有5名无症状亲属的红细胞尿卟啉浓度处于可能的潜在杂合子范围内。
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Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.58岁首次出现且家族研究呈阳性的冈瑟红细胞生成性血卟啉病。
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