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一名成年女性患红细胞生成性原卟啉症合并甲状腺毒症及肝功能不全的病例。

A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.

作者信息

Li Qingqing, Chen Xiaoyan, Wang Hong, Tuo Biguang, Zhou Zunlan, Yang Lina

机构信息

Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi Guizhou 563000.

Collaborative Innovation Center of Tissue Damage Repair and Regeneration Medicine of Zunyi Medical University, Zunyi Guizhou 563000.

出版信息

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Nov 28;48(11):1769-1774. doi: 10.11817/j.issn.1672-7347.2023.230242.


DOI:10.11817/j.issn.1672-7347.2023.230242
PMID:38432869
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10929955/
Abstract

Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the gene, and it is inherited in an autosomal recessive manner. EPP usually produces acute pain photosensitivity after exposure to sunlight in infancy or early childhood, and liver failure is the most serious associated complication. This article reported an adult female case of EPP complicated with thyrotoxicosis and liver dysfunction which is a rare condition. The patient's liver function improved after liver protection treatment, her thyroid function returned to normal, and her EPP symptoms improved significantly. Moreover, the c.286C>T gene mutation may be the pathogenic locus of EPP. For patients with abnormal liver function, the possibility of EPP should be considered after the common causes are excluded, and gene detection should be done to confirm the diagnosis in time. When EPP is associated with thyrotoxicosis and liver dysfunction, priority may be given to hepatoprotective therapy.

摘要

红细胞生成性原卟啉病(EPP)是一种由 基因编码的亚铁螯合酶(FECH)缺乏引起的遗传性代谢疾病,呈常染色体隐性遗传。EPP通常在婴儿期或儿童早期暴露于阳光下后产生急性疼痛性光敏反应,肝衰竭是最严重的相关并发症。本文报道了1例成年女性EPP合并甲状腺毒症和肝功能不全的罕见病例。患者经保肝治疗后肝功能改善,甲状腺功能恢复正常,EPP症状明显改善。此外,c.286C>T基因突变可能是EPP的致病位点。对于肝功能异常的患者,排除常见病因后应考虑EPP的可能性,并及时进行 基因检测以确诊。当EPP合并甲状腺毒症和肝功能不全时,可优先进行保肝治疗。

相似文献

[1]
A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023-11-28

[2]
Erythropoietic protoporphyria.

Orphanet J Rare Dis. 2009-9-10

[3]
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

JAMA Dermatol. 2017-8-1

[4]
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

J Invest Dermatol. 2009-3

[5]
Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.

J Pediatr Gastroenterol Nutr. 2006-7

[6]
Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report.

World J Gastroenterol. 2019-2-21

[7]
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.

Br J Dermatol. 2007-11

[8]
[Inheritance in erythropoietic protoporphyria].

Pathol Biol (Paris). 2010-10

[9]
Erythropoietic Protoporphyria, Autosomal Recessive

1993

[10]
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Mol Genet Metab. 2018-8-31

本文引用的文献

[1]
Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study.

Ther Adv Rare Dis. 2021-12-21

[2]
Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria.

Diagnostics (Basel). 2022-1-8

[3]
Liver involvement in patients with erythropoietic protoporphyria.

Dig Liver Dis. 2022-4

[4]
Thyrotropin, Hyperthyroidism, and Bone Mass.

J Clin Endocrinol Metab. 2021-11-19

[5]
Erythropoietic Protoporphyria.

J Cutan Med Surg. 2022

[6]
Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria.

Expert Rev Clin Pharmacol. 2021-2

[7]
Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice.

JAMA Dermatol. 2020-5-1

[8]
Nonalcoholic Fatty Liver Disease and Hypercholesterolemia: Roles of Thyroid Hormones, Metabolites, and Agonists.

Thyroid. 2019-9

[9]
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Mol Genet Metab. 2019-1-24

[10]
Porphyria.

N Engl J Med. 2017-8-31

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