Porphyria Sentence Examples

Several weeks later she was dead, having suffered from acute porphyria.

The most consistent clinical feature of porphyria cutanea tarda is bullous dermatosis on exposure to sunlight.

For many years, it was believed to be due to a genetic disorder that caused variegate porphyria.

Recent scholarship has proffered the theory that his condition was occasioned by an enzyme deficiency that leads to the inherited disease porphyria.

The skin is never affected in acute intermittent porphyria.

The skin biopsy appearances are often indistinguishable from other forms of cutaneous porphyria and hence its limited value in the diagnosis of PCT.

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George appears to have been infected with the mental disease porphyria, which gradually led to his madness.

Enlighten is not suitable for those with porphyria or any history of light induced rashes.

Porphyria is most commonly an inherited condition.

The net effect of this continued production is an abnormal accumulation of precursor molecules and development of some type of porphyria.

Each type of porphyria corresponds with a specific enzyme defect and an accumulation of the associated precursor.

Although there are eight steps in heme biosynthesis, there are only seven types of porphyrias; a defect in ALA synthase activity does not have a corresponding porphyria.

Acute intermittent porphyria (AIP) is also known as Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.

Variegate porphyria (VP) is also known as porphyria variegata, protocoproporphyria, South African genetic porphyria, and Royal malady (supposedly King George III of England and Mary, Queen of Scots, suffered from VP).

Congenital erythropoietic porphyria (step 4).

Congenital erythropoietic porphyria (CEP) is also called Gunther's disease, erythropoietic porphyria, congenital porphyria, congenital hematoporphyria, and erythropoietic uroporphyria.

Porphyria cutanea tarda (PCT) is also called symptomatic porphyria, porphyria cutanea symptomatica, and idiosyncratic porphyria.

Hepatoerythopoietic porphyria (HEP) affects heme biosynthesis in both the liver and the bone marrow.

In virtually all cases of porphyria, an inherited factor causes the enzyme's defect.

These asymptomatic individuals may be completely unaware that they have a gene for porphyria.

All of the hepatic porphyrias-except porphyria cutanea tarda-follow a pattern of acute attacks separated by periods during which no symptoms are present.

The erythropoietic porphyrias and porphyria cutanea tarda do not follow this pattern and are considered to be chronic conditions.

The specific symptoms of each porphyria vary based on which enzyme is affected and whether that enzyme occurs in the liver or in the bone marrow.

The severity of symptoms can vary widely, even within the same type of porphyria.

If the porphyria becomes symptomatic, the common factor between all types is an abnormal accumulation of protoporphyrins or porphyrin.

Major symptoms of this type of porphyria include neurological problems and sensitivity to light.

Depending on the array of symptoms a child may exhibit, the possibility of porphyria may not immediately come to a physician's mind.

In the absence of a family history of porphyria, non-specific symptoms, such as abdominal pain and vomiting, may be attributed to other disorders.

Diagnosis is more easily accomplished in cases in which non-specific symptoms appear in combination with symptoms more specific to porphyria, like neuropathy, sensitivity to sunlight, or certain other manifestations.

Certain symptoms, such as urine the color of port wine, are hallmark signs very specific to porphyria.

Whether heme precursors occur in the blood, urine, or stool gives some indication of the type of porphyria, but more detailed biochemical testing is required to determine their exact identity.

Making this determination yields a strong indicator of which enzyme in the heme biosynthesis pathway is defective; which, in turn, allows a diagnosis of the particular type of porphyria.

For example, a screening test for acute intermittent porphyria (AIP) is the Watson-Schwartz test.

Treatment for porphyria revolves around avoiding acute attacks, limiting potential effects, and treating symptoms.

Treatment options vary depending on the specific type of porphyria diagnosed.

Given the rarity of ALA dehydratase porphyria, definitive treatment guidelines for this rare type have not been developed.

Treatment for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria follows the same basic regimen.

A child who has been diagnosed with one of these porphyrias can prevent most attacks by avoiding precipitating factors, such as certain drugs that have been identified as triggers for acute porphyria attacks.

The key points of congenital erythropoietic porphyria treatment are avoiding exposure to sunlight and prevention of skin trauma or skin infection.

Liver transplantation has been used in cases of liver failure, but it has not effected a long-term cure of the porphyria.

Acute porphyria attacks can be life-threatening events, so attempts at self-treatment can be dangerous.

Even when porphyria is inherited, symptom development depends on a variety of factors.

Although pregnancy has been known to trigger porphyria attacks, dangers associated with pregnancy as not as great as was once thought.

Children with a family history of an acute porphyria should be screened for the disease.

Even if symptoms are absent, it is useful to know about the presence of the gene to assess the risks of developing the associated porphyria.

Prenatal diagnosis of congenital erythropoietic porphyria has been successfully accomplished.

Any prenatal tests, however, would not indicate whether a child would develop porphyria symptoms; only that the potential is there.

Many children with porphyria do not have symptoms.

Hematin-A drug administered intravenously to halt an acute porphyria attack.

The genetic defects are subdivided into errors of heme production (porphyria) and those of globin production, known collectively as the hemoglobinopathies.

One possible explanation for werewolf sightings is a rare genetic disease called porphyria.

This aversion to light causes those suffering from porphyria to go out only at night.

For example, some people may find relief for the pain associated with acute intermittent porphyria, hereditary coproporphyria, or variegate porphyria through acupuncture or hypnosis.

People suffering from porphyria have facial skin with brown pigmentation, and suffer from facial abnormalities, skin lesions, hand and face deformities and photo-sensitivity.