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Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.

作者信息

DeMaria Bethani L, Franke Aaron J

机构信息

Division of Hematology and Oncology, Sidney Health Center Cancer Care, Sidney, USA.

出版信息

Cureus. 2024 Nov 20;16(11):e74091. doi: 10.7759/cureus.74091. eCollection 2024 Nov.


DOI:10.7759/cureus.74091
PMID:39568488
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11578537/
Abstract

We present a case of a 34-year-old woman with a 12-week history of blistering skin lesions, ultimately diagnosed with co-existing porphyria cutanea tarda (PCT) and hereditary hemochromatosis (HH) due to a homozygous C282Y mutation. The patient's discovered genetic predisposition to iron overload played a key role in the development of clinically symptomatic PCT. Treatment with serial therapeutic phlebotomy was started, dramatically improving her symptomatic cutaneous disease, iron indices, and liver function tests. The case brings to the fore the need for thorough diagnostics including genetic testing and the early identification and treatment of iron overload in patients with PCT. This case emphasizes the clinical effectiveness of reducing plasma iron by phlebotomy and underscores the importance of intervention to prevent the long-term complications of pathologic iron overload in PCT. This case report serves to supplement the paucity of existing literature detailing the complex association between PCT and HH and the diagnostic challenges of identifying these commonly co-existing conditions.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/3ea67de656b9/cureus-0016-00000074091-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/5fe1409e305b/cureus-0016-00000074091-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/36867e95b79e/cureus-0016-00000074091-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/2244f1474cb5/cureus-0016-00000074091-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/5d9f2d863246/cureus-0016-00000074091-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/881c1039cfec/cureus-0016-00000074091-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/8f8166a72592/cureus-0016-00000074091-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/3ea67de656b9/cureus-0016-00000074091-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/5fe1409e305b/cureus-0016-00000074091-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/36867e95b79e/cureus-0016-00000074091-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/2244f1474cb5/cureus-0016-00000074091-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/5d9f2d863246/cureus-0016-00000074091-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/881c1039cfec/cureus-0016-00000074091-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/8f8166a72592/cureus-0016-00000074091-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3ec/11578537/3ea67de656b9/cureus-0016-00000074091-i07.jpg

相似文献

[1]
Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.

Cureus. 2024-11-20

[2]
[Significance and prevalence of the C282Y gene mutation of primary hemochromatosis in the pathogenesis of pophyria cutanea tarda].

Cas Lek Cesk. 2000-11-22

[3]
A Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda.

Cureus. 2023-7-3

[4]
Association of porphyria cutanea tarda with hereditary hemochromatosis.

J Am Acad Dermatol. 2004-8

[5]
[Role of the hemochromatosis gene in prophyria cutanea tarda. Prospective study of 56 cases].

Ann Dermatol Venereol. 2001-5

[6]
Iron overload in porphyria cutanea tarda.

Haematologica. 1999-3

[7]
Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature.

Cutis. 2007-11

[8]
Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

ACG Case Rep J. 2019-11-26

[9]
Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection.

Am J Gastroenterol. 2000-12

[10]
[Hepatitis C, hemochromatosis and porphyria cutanea tarda].

Dtsch Med Wochenschr. 2006-3-31

本文引用的文献

[1]
Heme (dys)homeostasis and liver disease.

Front Physiol. 2024-7-29

[2]
Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis.

BMJ Case Rep. 2023-9-7

[3]
Iron Metabolism in the Disorders of Heme Biosynthesis.

Metabolites. 2022-8-31

[4]
Coordination of iron homeostasis by bone morphogenetic proteins: Current understanding and unanswered questions.

Dev Dyn. 2022-1

[5]
Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

ACG Case Rep J. 2019-11-26

[6]
Increased mortality in patients with porphyria cutanea tarda-A nationwide cohort study.

J Am Acad Dermatol. 2020-9

[7]
Heme biosynthesis and the porphyrias.

Mol Genet Metab. 2019-4-22

[8]
Iron Regulation: Macrophages in Control.

Pharmaceuticals (Basel). 2018-12-14

[9]
Hepatic porphyria: A narrative review.

Indian J Gastroenterol. 2016-11

[10]
Mechanisms of iron hepatotoxicity.

J Hepatol. 2016-7

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