先天性促红细胞增生性贫血患者的血管样条纹和视盘结节。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL
Yuanzhang Jiao, Huib Buyck, Jesse Gale
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引用次数: 0

摘要

一名60多岁的干眼症患者被发现在乳头状视网膜下有血管状条纹。先天性促红细胞增生性贫血是他一生中主要的健康问题,由于铁超载需要静脉切除,但多年来没有输血。用光学相干断层扫描对眼睛进行仔细检查,也发现了小的亚临床视盘囊肿,这与先天性促红细胞增生性贫血有关,尚未报道。视盘结节和血管样条纹共同代表了眼内异位钙化表型,可在更常见的遗传性弹性假性黄瘤或其他遗传性溶血性贫血(如镰状细胞或地中海贫血)中看到。这些关联突出了焦磷酸盐作为钙化生理抑制剂的作用,血清焦磷酸盐缺乏会导致过度和异位钙化。这为视盘囊肿、血管样条纹和其他异位钙化的治疗提出了有趣的假设。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Angioid streaks and optic disc drusen in a patient with congenital dyserythropoietic anaemia.

A man in his 60s with dry eye symptoms was noted to have angioid streaks under the peripapillary retina. Congenital dyserythropoietic anaemia was the major health issue throughout his life, requiring venesection for iron overload, but no transfusions for many years. Close inspection of the eyes with optical coherence tomography also detected small subclinical optic disc drusen, which have not been reported in association with congenital dyserythropoietic anaemia. Together, optic disc drusen and angioid streaks represent an ectopic calcification phenotype in the eye and can be seen in the more common inherited condition of pseudoxanthoma elasticum or other inherited haemolytic anaemias such as sickle cell or thalassaemia. These associations highlight the role of pyrophosphate as a physiological inhibitor of calcification, and deficiencies of serum pyrophosphate lead to excessive and ectopic calcification. This raises intriguing hypotheses for the treatment of optic disc drusen, angioid streaks and other conditions of ectopic calcification.

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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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