戈谢病 1 型患者在接受底物减少疗法后出现鱼鳞病。

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part A Pub Date : 2024-08-05 DOI:10.1002/ajmg.a.63835

Jack Herbster, Carlos E. Prada, Carly A. Rasmussen, Allegra Quadri, Victoria Kuritza, Michael Viglione, Sheryl Hoyer

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引用次数: 0

摘要

我们描述了一例1型戈谢病患者在开始使用eliglustat进行底物还原疗法（SRT）数周后出现鱼鳞病的病例。在酶替代或SRT治疗戈谢病的文献中，没有关于鱼鳞病的报道。鱼鳞病见于2型和3型戈谢病，但不见于1型。这就提出了一个问题：为什么患者在开始接受SRT治疗后会出现鱼鳞病？

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the literature in enzyme replacement or SRT for Gaucher disease. Ichthyosis is seen with type 2 and 3 Gaucher disease, but not type 1. This raises the question: Why would a patient develop ichthyosis after starting SRT?

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .