Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares
Seven patients with hereditary coproporphyria (HCP) and 14 relatives from six families have been studied. Three of seven patients (43%) exhibited cutaneous signs, hyperpigmentation, photosensitivity and all of them presented acute neurovisceral attacks. Biochemical parameters of the HCP patients sho...
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| Autores principales: | , , , , , , , |
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| Formato: | JOUR |
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| Acceso en línea: | http://hdl.handle.net/20.500.12110/paper_03252787_v79_n3_p144_Stella |
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| Sumario: | Seven patients with hereditary coproporphyria (HCP) and 14 relatives from six families have been studied. Three of seven patients (43%) exhibited cutaneous signs, hyperpigmentation, photosensitivity and all of them presented acute neurovisceral attacks. Biochemical parameters of the HCP patients showed an increase of 5-aminolevulinic acid (ALA) (3.9 - 14.1 mg/24h.), porphobilinogen (PEG) (6.5 - 47.9 mg/24h) and total porphyrins (645 - 31129 μg/ 24h)in urine, which diminished when they reached remission (ALA: 0.2 - 5.3 mg/24hs; PBG: 0.8 -25.2 mg/24h, total porphyrins: 112 - 952 μg/24h, Normal Values: ALA: 2-4 mg/24h, PBG: 1-2 mg/ 24h, total porphyrins: 20 - 250 μg/24h). The fecal porphyrins were also increased during the acute phase (316 - 50,056 μg/g wet) and reduced in remission (165 -1600 μg/g wet). The pattern of urinary porphyrins showed a high concentration of coproporphyrin, and emission wavelengt at 618 nm of the plasma porphyrins allowed to distinguish this porphyria from variegate prophyria (VP). Treatment of the acute attack of HCP was similar to that applied to acute intermittent porphyria or VP: carbohydrates (acute attack: 330 - 500 g/day; light attacks: 20 - 40 g/day), vitamine B complex and folic acid (30 mg/day). When HCP patients also showed cutaneous symptoms, oral S-adenosyl-L-methionine (12 mg/kg/ day) for 3 weeks was given. |
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