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:	Noriega, Guillermo Osvaldo, Batlle, Alcira María del Carmen
Publicado:	1998
Materias:	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
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella http://hdl.handle.net/20.500.12110/paper_03252787_v79_n3_p144_Stella
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_03252787_v79_n3_p144_Stella
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spelling	paper:paper_03252787_v79_n3_p144_Stella2023-06-08T15:32:08Z Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares Noriega, Guillermo Osvaldo Batlle, Alcira María del Carmen 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. 1998 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella 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 Noriega, Guillermo Osvaldo Batlle, Alcira María del Carmen 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.
author	Noriega, Guillermo Osvaldo Batlle, Alcira María del Carmen
author_facet	Noriega, Guillermo Osvaldo Batlle, Alcira María del Carmen
author_sort	Noriega, Guillermo Osvaldo
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
publishDate	1998
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella http://hdl.handle.net/20.500.12110/paper_03252787_v79_n3_p144_Stella
work_keys_str_mv	AT noriegaguillermoosvaldo coproporfiriahereditariaestudiosbioquimicosen7pacientessintomaticosyfamiliares AT batllealciramariadelcarmen coproporfiriahereditariaestudiosbioquimicosen7pacientessintomaticosyfamiliares
_version_	1768543135299796992

Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares

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