- Porphyrias are a rare group of inherited or (less commonly) acquired metabolic disorders in which defective enzymes impair the biosynthesis of heme in the liver and/or bone marrow.了解详细信息:Porphyrias are a rare group of inherited or (less commonly) acquired metabolic disorders in which defective enzymes impair the biosynthesis of heme in the liver and/or bone marrow.www.amboss.com/us/knowledge/Porphyrias
Porphyria (por-FEAR-e-uh) refers to a group of rare disorders that result from a buildup of natural chemicals called porphyrins in the body. Porphyrins are needed to make heme, a part of hemoglobin. Hemoglobin is a protein in red blood cells.
www.mayoclinic.org/diseases-conditions/porphyria/…The most common type of porphyria, porphyria cutanea tarda, is most often acquired, meaning that factors other than inherited genes may cause this condition. These factors may include a buildup of iron in the body, which may be caused by gene mutations that can lead to hemochromatosis
www.niddk.nih.gov/health-information/liver-disease…Porphyria most often results from genetic mutations passed down from parent to child. You are more at risk for porphyria if a parent has the disorder. Unlike the other types of porphyrias, porphyria cutanea tarda (PCT) occurs when an inactive acquired disease, like hepatitis C or human immunodeficiency virus (HIV), becomes active in the body.
my.clevelandclinic.org/health/diseases/17760-porp…Background: Erythropoietic protoporphyria (EPP) is a semi-dominantly inherited porphyria presenting with photosensitivity during early childhood. Acquired EPP has been reported; however, data regarding this rare disorder are scarce. Purpose: To evaluate the characteristics of acquired EPP.
pubmed.ncbi.nlm.nih.gov/31374130/ Porphyria - Symptoms and causes - Mayo Clinic
Porphyria (por-FEAR-e-uh) refers to a group of rare disorders that result from a buildup of natural chemicals called porphyrins in the body. Porphyrins are needed to make heme, a part of hemoglobin. Hemoglobin is a protein in red blood cells. It carries oxygen to the body's organs and tissues. Eight enzymes are … 展开
Symptoms can vary widely by type of porphyria and in how severe the symptoms are. Symptoms also can vary among people with the condition. Some people with a gene change that causes porphyria never have any symptoms. 展开
All types of porphyria involve a problem making heme. Heme is a part of hemoglobin. Hemoglobin is the protein in red blood cells that carries … 展开
Possible complications depend on the form of porphyria: 1. Acute porphyriascan be life-threatening if an attack isn't promptly treated. During an attack, you may experience … 展开
In addition to genetic risk factors, environmental risk factors may trigger symptoms in porphyria. When exposed to the trigger, the body's … 展开
Porphyria - NIDDK - National Institute of Diabetes and …
2024年12月28日 · The most common type of porphyria, porphyria cutanea tarda, is most often acquired, meaning that factors other than inherited genes may cause this condition. These factors may include a buildup of iron in the body, …
Porphyria: Symptoms, Causes, Treatments - Cleveland Clinic
2018年2月15日 · Porphyria most often results from genetic mutations passed down from parent to child. You are more at risk for porphyria if a parent has the disorder. Unlike the other types of …
Acquired erythropoietic protoporphyria: A systematic review of the ...
Background: Erythropoietic protoporphyria (EPP) is a semi-dominantly inherited porphyria presenting with photosensitivity during early childhood. Acquired EPP has been reported; …
- 作者: Igor Snast, Igor Snast, Ran Kaftory, Shani Sherman, Shani Sherman, Yonatan Edel, Yonatan Edel, Emmil...
- Publish Year: 2020
Porphyria: What Is It and Who Should Be Evaluated? - PMC
The porphyrias are a group of rare metabolic disorders—either inherited or acquired along the heme biosynthetic pathway. 1, 2 Each type of porphyria is a result of a specific deficiency in …
Porphyria: genetic and acquired - PubMed
The porphyrias can be grouped conveniently by their presenting symptoms. Acute intermittent neurological symptoms of neuritis, abdominal pain and psychoses may occur in acute …
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Acute Porphyria - StatPearls - NCBI Bookshelf
2023年7月17日 · Acute porphyria refers to a group of rare disorders characterized by an enzymatic defect in the heme biosynthetic pathway.[1][2] Patients present with acute debilitating, life-threatening attacks that may be precipitated by …
Porphyria Overview - Medscape
2024年12月12日 · Porphyrias can be inherited or (rarely) acquired. There are at least 8 different types of porphyrias. Acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and the familial form of …
Porphyrias - Knowledge - AMBOSS
2023年11月20日 · An important acquired form of porphyria is lead poisoning, which is discussed in another article (see “ Metal toxicity ”). Patients with a known porphyria should avoid potential …
Porphyria | UCSF Department of Surgery
For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America. Most porphyrias result from inheriting an …