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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todo:paper_03252787_v79_n3_p144_Stella2023-10-03T15:23:25Z Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares Stella, A.M. Melito, V.E. Melito, V.A. Noriega, G. Muramatsu, H. Tomassi, L. Magnin, P.H. Del Batlle, A.M.C. aminolevulinic acid coproporphyrin folic acid fructose glucose porphobilinogen porphyrin s adenosylmethionine vitamin b complex adult article carbohydrate intake clinical article differential diagnosis familial disease female human hyperpigmentation male oral drug administration photosensitivity porphyria porphyria cutanea tarda porphyria variegata relative remission 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. Fil:Noriega, G. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Del Batlle, A.M.C. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_03252787_v79_n3_p144_Stella |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
aminolevulinic acid coproporphyrin folic acid fructose glucose porphobilinogen porphyrin s adenosylmethionine vitamin b complex adult article carbohydrate intake clinical article differential diagnosis familial disease female human hyperpigmentation male oral drug administration photosensitivity porphyria porphyria cutanea tarda porphyria variegata relative remission |
| spellingShingle |
aminolevulinic acid coproporphyrin folic acid fructose glucose porphobilinogen porphyrin s adenosylmethionine vitamin b complex adult article carbohydrate intake clinical article differential diagnosis familial disease female human hyperpigmentation male oral drug administration photosensitivity porphyria porphyria cutanea tarda porphyria variegata relative remission Stella, A.M. Melito, V.E. Melito, V.A. Noriega, G. Muramatsu, H. Tomassi, L. Magnin, P.H. Del Batlle, A.M.C. Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| topic_facet |
aminolevulinic acid coproporphyrin folic acid fructose glucose porphobilinogen porphyrin s adenosylmethionine vitamin b complex adult article carbohydrate intake clinical article differential diagnosis familial disease female human hyperpigmentation male oral drug administration photosensitivity porphyria porphyria cutanea tarda porphyria variegata relative remission |
| description |
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. |
| format |
JOUR |
| author |
Stella, A.M. Melito, V.E. Melito, V.A. Noriega, G. Muramatsu, H. Tomassi, L. Magnin, P.H. Del Batlle, A.M.C. |
| author_facet |
Stella, A.M. Melito, V.E. Melito, V.A. Noriega, G. Muramatsu, H. Tomassi, L. Magnin, P.H. Del Batlle, A.M.C. |
| author_sort |
Stella, A.M. |
| title |
Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| title_short |
Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| title_full |
Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| title_fullStr |
Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| title_full_unstemmed |
Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| title_sort |
coproporfiria hereditaria. estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| url |
http://hdl.handle.net/20.500.12110/paper_03252787_v79_n3_p144_Stella |
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