纯合子尿卟啉原脱羧酶基因突变的非典型表现：迟发性皮肤卟啉症还是轻度肝红细胞生成性卟啉症？
Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?
作者信息
Dotto Pedro Gabriel, de Azevedo Vasconccellos Mônica Ribeiro, da Silva Franco José Francisco, Gomes Caio Perez, Pesquero João Bosco
机构信息
Department of Biophysics, Federal University of São Paulo, São Paulo, Brazil.
Department of Dermatology, Federal University of São Paulo, São Paulo, Brazil.
出版信息
Clin Genet. 2025 Jun 19;108(3):371-3. doi: 10.1111/cge.70007.
We report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD-related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.
我们报告了一名携带UROD基因c.185C>T（p.P62L）变异的纯合子患者，其临床表现类似于家族性迟发性皮肤卟啉症（PCT）。该病例突出了与UROD相关的卟啉症严格分类的局限性，并支持了由遗传、表观遗传和环境因素调节的表型连续体的存在。
Zotero 插件