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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.

DOI:10.1111/cge.70007
PMID:40534320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12319124/
Abstract

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.

摘要

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。

相似文献

1
Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?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？
Clin Genet. 2025 Jun 19;108(3):371-3. doi: 10.1111/cge.70007.
2
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.迟发性皮肤卟啉病和肝红细胞生成性卟啉病：19 种新型尿卟啉原 III 脱羧酶突变的鉴定。
Mol Genet Metab. 2019 Nov;128(3):363-366. doi: 10.1016/j.ymgme.2018.11.013. Epub 2018 Nov 28.
3
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.人类尿卟啉原脱羧酶基因突变（G281E）导致肝红细胞生成性卟啉病和显性家族性迟发性皮肤卟啉病：对西班牙患者的生化和遗传学研究
J Invest Dermatol. 1995 Apr;104(4):500-2. doi: 10.1111/1523-1747.ep12605953.
4
Familial Porphyria Cutanea Tarda家族性迟发性皮肤卟啉病
5
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.红细胞尿卟啉原脱羧酶活性：迟发性皮肤卟啉病的诊断价值及其与临床特征的关系
Am J Med Sci. 1998 Jan;315(1):59-62. doi: 10.1097/00000441-199801000-00011.
6
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.尿卟啉原脱羧酶：人类完整基因序列及三个肝红细胞生成性卟啉病家族的分子研究
Am J Hum Genet. 1996 Apr;58(4):712-21.
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Porphyria Cutanea Tarda迟发性皮肤卟啉病
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Hepatoerythropoietic Porphyria肝红细胞生成性卟啉病
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Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.西班牙迟发性家族性卟啉病：UROD 基因突变的 8 个新突变特征及常见 p.G281E 突变的单体型分析。
Gene. 2013 Jun 10;522(1):89-95. doi: 10.1016/j.gene.2013.03.074. Epub 2013 Mar 29.
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Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.肝红细胞生成性卟啉症新突变的描述及纯合子胎儿的产前排除
Arch Dermatol. 2002 Jul;138(7):957-60. doi: 10.1001/archderm.138.7.957.

本文引用的文献

1
Porphyria cutanea tarda: Recent update.迟发性皮肤卟啉病：最新进展。
Mol Genet Metab. 2019 Nov;128(3):271-281. doi: 10.1016/j.ymgme.2019.01.004. Epub 2019 Jan 18.
2
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.由于尿卟啉原脱羧酶基因的新突变导致的肝红细胞生成性血卟啉病。
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Porphyria cutanea tarda--when skin meets liver.迟发性皮肤卟啉病——皮肤与肝脏的相遇。
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Crystal structure of human uroporphyrinogen decarboxylase.人尿卟啉原脱羧酶的晶体结构
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Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.尿卟啉原脱羧酶：人类完整基因序列及三个肝红细胞生成性卟啉病家族的分子研究
Am J Hum Genet. 1996 Apr;58(4):712-21.