Garg, Kapil Kumar and Singh, Harpreet (2016) A Case of Congenital Erythropoietic Porphyria without Haemolysis. European Journal of Case Reports in Internal Medicine, 3 (7). ISSN 2284-2594
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Abstract
Porphyrias are a group of disorders caused by enzymatic defects in the biosynthesis of haem. Congenital erythropoietic porphyria (CEP) or Günther's disease is an extremely rare autosomal recessive disorder. Clinical manifestations include onset in infancy of blistering of sunexposed areas, atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth without neurological involvement. The only available prophylactic treatment for CEP is total avoidance of sunlight. A high degree of suspicion is required for the diagnosis. Early diagnosis is very important to prevent subsequent damage.
| Item Type: | Article |
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| Uncontrolled Keywords: | Congenital Erythropoietic Porphyria, Porphyrins, UROS |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Chiara D'Arpa |
| Date Deposited: | 12 Dec 2016 14:30 |
| Last Modified: | 12 Dec 2016 14:30 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/15691 |
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