Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatitis C virus (HCV) was recently recognized as a probable etiologic factor for porphyria cutanea tarda (PCT). A review of the literature revealed 40 cases of PCT associated with the human immunodeficiency virus (HIV). In most of these cases, hepatitis C status was unknown. We describe two patients with PCT who were coinfected with HIV and HCV and discuss the interaction of these two viruses. A diagnosis of PCT, especially in a young patient, should prompt investigation for underlying HIV and HCV infection. Porphyrin studies should be performed in any patient with HIV and photosensitivity. Clinicians should be aware of the infectious risk associated with the vesicles and erosions in these patients.
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PMID:Porphyria cutanea tarda and human immunodeficiency virus: two cases associated with hepatitis C. 973 29

Since 1987, about 60 cases of porphyria cutanea tarda (PCT) associated with human immunodeficiency virus (HIV) have been reported. The respective roles of HIV and toxic hepatic factor in PCT remain unclear. We report 10 new cases and analyse the following toxic hepatic factors: hepatitis C and B, alcoholism, drugs. The route of HIV transmission to these 10 men were: IV drugs abuse (3), homo/bisexuality (4), heterosexuality (1), and unknown (2). When PCT was diagnosed, their average age was 38 years (29-54) and the HIV-infection had been established for 4.8 years (0.33-9). Seven men had HIV-related symptoms and a CD4+ lymphocyte count below 200/mm3. Cutaneous signs and urinary porphyrin count were characteristic. Alcohol abuse was present in 8/10 patients. AST, ALT and/or gamma GT were high in 9/10 patients; 5/10 patients had HCV antibodies (4 were HCV-PCR positive). HBs antigenemia was negative among the 5/8 patients with HBV antibodies; 10/10 patients took prescribed hepatotoxic drugs. Our series confirms the presence of toxic hepatic factors in PCT of HIV-positive patients. Hepatitis C, alcoholism and hepatotoxic drug consumption seem to be triggers for the appearance of PCT in HIV-positive patients.
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PMID:Porphyria cutanea tarda associated with human immunodeficiency virus infection. 985 61

A number of factors, including increased iron stores and alcohol consumption, are known to be associated with the development of porphyria cutanea tarda (PCT) in susceptible individuals. Recent reports have described a significant association between inheritance of the C282Y and H63D mutations in the HFE gene, associated with genetic hemochromatosis (GH) and PCT. A strong association between hepatitis C virus infection and PCT has also been demonstrated, while case reports record a link between human immunodeficiency virus (HIV) and PCT. We have investigated the frequency of these factors in a racially-mixed population of patients with PCT in Cape Town, South Africa. 57 patients with PCT drawn from three ethnic groups were screened for the presence of the C282Y and H63D mutations linked to GH, and the prevalences were compared with corresponding healthy control populations. The seroprevalence of markers for HCV, hepatitis B (HBV) and HIV infection were examined in 28 of these. In the control populations, we found that both the C282Y and H63D mutations are highly prevalent in South Africans of European origin. In a population of mixed or Asian origin, the C282Y mutation is very rare whereas the H63D mutation is common. Neither mutation was encountered in any African subject. Both mutations are associated with PCT, but the association is dependent on the ethnic origins of the population to which the patient belongs. In contrast to other studies, HCV infection is numerically unimportant in PCT in our patients. HIV infection is increasingly encountered in our patients with PCT, but the strength of the association cannot be determined in view of the high background prevalence of HIV infection in some sectors of the South African population. The contribution of specific risk factors may be heavily dependent on the population from which patients are drawn, and care should be taken in extrapolating from observations in one racial or geographic population to any other.
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PMID:Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. 1269 43

Porphyria cutanea tarda (PCT) is the most common disorder of porphyria metabolism in Europe and North America. The incidence in women appears to be increasing, perhaps as a result of widespread use of hormonal contraception. Treatment in pregnancy is largely supportive, but screening of the pregnant patient for antinuclear antibodies, diabetes, human immunodeficiency virus (HIV) and hepatitis should be performed, as there is an association of PCT with these conditions. The baby should also be screened postpartum for PCT. Patients with PCT cope well with normal and operative delivery; however, an anaesthetic plan of management for labour and delivery is advisable.
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PMID:Porphyria cutanea tarda in pregnancy: a case report. 1536 45

The authors present a case of disseminated Kaposi's sarcoma in a male patient, HIV negative and Hepatitis C virus (HCV) positive. Although it is well-known that in HCV positive patients the onset of cutaneous diseases such as porphyria cutanea tarda, mixed essential cryoglobulinemia, lichen planus, polyarteritis nodosa, itch/prurigo, is possible, papers on its association with disseminated Kaposi's sarcoma in HIV negative patients are rare in the literature. Such an association is probably not a matter of chance: in fact, the changes to the immune system induced by the HCV virus, in synergy with those induced by the Human Herpetic virus-8, could likewise play a role in the development of Kaposi's sarcoma as happens in patients with immunodeficiency .
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PMID:Disseminated Kaposi's sarcoma and HCV infection: only a casual relationship? A case report. 1952 12

Porphyria cutanea tarda (PCT) is a vesiculobulIous disorder often associated with estrogens, hepatitis C virus (HCV), alcoholism, hereditary hemochromatosis (HH), and human immunodeficiency virus. Hepcidin, a peptide hormone produced by the liver, has been associated with iron metabolism in 3 common precipitating factors for PCT: HCV, HH, and alcohol consumption. We present the case of a patient with erosions and noninflammatory bullae on his hands and forearms who received a diagnosis of PCT. On further examination, the patient was found to be positive for 3 precipitating factors: HCV, an HH gene mutation, and alcohol use. For patients with PCT, it is important to perform phenotypic screening for HCV and HH. Targeting hepcidin with replacement therapy to decrease iron may be a treatment of not only HCV, HH, and alcoholic cirrhosis, but also PCT.
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PMID:Iron, genes, and viruses: the porphyria cutanea tarda triple threat. 2191 73

Porphyria cutanea tarda (PCT) is caused by inherited or acquired partial deficiency of the uroporphyrinogen-decarboxylase (Uro-D) enzyme activity. It is the most common form of porphyria. The main triggering factors to the development of porphyria cutanea tarda are alcohol, hepatitis C virus and human immunodeficiency virus. There are several reports of PCT associated with drugs, among them, antiretroviral therapy. We describe three HIV-positive patients, which showed photosensitivity as well as the emergence of tense blisters on sun-exposed areas during the use of highly active antiretroviral therapy (HAART) and discuss the possibility of PCT after the use of these drugs by those patients.
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PMID:HAART: a risk factor for development of porphyria cutanea tarda? 2329 85

Porphyria cutanea tarda (PCT), a relatively uncommon metabolic disease, is the most common cutaneous porphyria. Here, we present the case of a patient diagnosed with sporadic, nonfamilial PCT that presented with classical cutaneous findings and multiple risk factors, including alcohol abuse, human immunodeficiency virus/AIDS, that have been strongly associated with the sporadic form of PCT.
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PMID:Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. 2729 54

This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of uroporphyrinogen decarboxylase (Urod), which may be hereditary or acquired. Several studies suggest that HIV infection associated with cofactors might trigger the development of porphyria cutanea tarda. In this case report, we present a patient infected with HIV, who after the introduction of antiretroviral therapy (ART) enjoyed clinical improvement of porphyria cutanea tarda symptoms.
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PMID:Porphyria cutanea tarda in a HIV- positive patient. 2757 53

Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. The exacerbation of PCT with contraction of HIV is now believed to result from coinfection from the hepatitis C virus (HCV). Blistering of sun-exposed skin, a classic presenting sign of PCT, is not exclusive to the condition. Cutaneous findings must also trigger physicians to consider additional types of porphyrias, such as variegate porphyria. The diagnosis of pseudoporphyria, which does not result from enzymatic absence, must be considered in patients with photosensitivity and cutaneous bullae. Recent health food trends, such as chlorophyll, have been linked to pseudoporphyria. PCT is a serious condition in which accurate diagnosis is necessary for appropriate management.
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PMID:Porphyria cutanea tarda: an intriguing genetic disease and marker. 2832 38


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