Hepatic failure and death from erythropoietic protoporphyria
نویسندگان
چکیده
منابع مشابه
Erythropoietic protoporphyria
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between 1:75,000 and 1:200,000. It usually manifests in early infancy upon the first sun exposures. EPP is characterised by...
متن کاملAfamelanotide for Erythropoietic Protoporphyria.
BACKGROUND Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life. METHODS We conducted two multicenter, rand...
متن کاملErythropoietic protoporphyria. IV. Protection from sunlight.
Dihydroxyacetone and lawsone, in a vanishing cream base, applied to the skin was found to protect patients with erythropoietic protoporphyria against sunlight. The use of the same ingredients in a 50% isopropyl alcohol/water solution did not induce adequate light protection. The chemically induced ultraviolet light filter in the stratum corneum allowed these patients to change their lives from ...
متن کاملIsotopic studies of the erythropoietic and hepatic components of congenital porphyria and 'erythropoietic' protoporphyria.
1. Labelled glycine and/or 6-aminolaevulinic acid (ALA) were administered to a child with congenital erythropoietic porphyria (Giinther’s disease), to three normal children and to three patients with erythropoietic protoporphyria. 2. The utilization of [I5N]ALA for the synthesis of faecal ‘urobilin’ in the congenital erythropoietic patient was normal. 3. This suggests there is no significant in...
متن کاملA case of erythropoietic protoporphyria.
A 39-year old Malay male presented with a history of photosensitivity following exposure to sunlight. The skin became itchy for about 20 minutes and was followed by blister formation. The affected skin subsequently showed signs of peeling off. He has had similar experience since the age of 12 years and has learned to avoid unnecessary exposure to sunlight since then. Examination showed areas of...
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ژورنال
عنوان ژورنال: Gastroenterology
سال: 1978
ISSN: 0016-5085
DOI: 10.1016/0016-5085(78)90301-3