Non frequent Porphyrias in the Argentinean population

The Porphyrias are a group of diseases resulting from partial deficiencies in one of the heme biosynthetic enzymes. These disorders can be classified on the basis of their clinical manifestations or according the organ where the metabolic deficiency is mainly expressed. In general this enzyme defici...

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Detalles Bibliográficos
Autores principales:	Melito, V.A., Rossetti, M.V., Parera, V.E., Batlle, A.
Formato:	JOUR
Lenguaje:	Spanish
Materias:	Acute porphyrias Cutaneous porphyries Enzymes Heam Porphyrias cefalexin ceftriaxone gentamicin phenobarbital valproic acid adolescent adult article autosomal dominant disorder child clinical article controlled study coproporphyria differential diagnosis disease severity enzyme deficiency erythropoietic protoporphyria gene mutation human porphyria porphyria cutanea tarda risk factor
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_03252787_v87_n4_p248_Melito
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	todo:paper_03252787_v87_n4_p248_Melito
record_format	dspace
spelling	todo:paper_03252787_v87_n4_p248_Melito2023-10-03T15:23:27Z Non frequent Porphyrias in the Argentinean population Melito, V.A. Rossetti, M.V. Parera, V.E. Batlle, A. Acute porphyrias Cutaneous porphyries Enzymes Heam Porphyrias cefalexin ceftriaxone gentamicin phenobarbital valproic acid adolescent adult article autosomal dominant disorder child clinical article controlled study coproporphyria differential diagnosis disease severity enzyme deficiency erythropoietic protoporphyria gene mutation human porphyria porphyria cutanea tarda risk factor The Porphyrias are a group of diseases resulting from partial deficiencies in one of the heme biosynthetic enzymes. These disorders can be classified on the basis of their clinical manifestations or according the organ where the metabolic deficiency is mainly expressed. In general this enzyme deficiency is associated with mutations in the genes which codify each enzyme. There are 7 types of Porphyrias. They are autosomal dominant disorders with the exception of PCE, PHE and NPA which are recessive. However, some rare and severe cases with recessive inheritance have also been reported. The description of these infrequent cases and their treatments and evolution would make easier the differential diagnosis of Porphyrias as well as the therapeutic possibilities to be applied in each case. Moreover, it is very important the early identification and treatment of infantile heterozygous porphyrias to avoid the risks of associatedd complications. In the CIPYP we have diagnosed 5 cases of infantil Acute Porphyrias: 2 PAI, 2 PV and 1 CPH. In the group of Cutaneous Porphyrias we present 25 cases of infantil PCT, the first case of PHE in Argentina, 4 cases of infantil PCE and 1 adult PCE and 2 cases of PPE with hepatic failure. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Batlle, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR Spanish info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_03252787_v87_n4_p248_Melito
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
language	Spanish
orig_language_str_mv	Spanish
topic	Acute porphyrias Cutaneous porphyries Enzymes Heam Porphyrias cefalexin ceftriaxone gentamicin phenobarbital valproic acid adolescent adult article autosomal dominant disorder child clinical article controlled study coproporphyria differential diagnosis disease severity enzyme deficiency erythropoietic protoporphyria gene mutation human porphyria porphyria cutanea tarda risk factor
spellingShingle	Acute porphyrias Cutaneous porphyries Enzymes Heam Porphyrias cefalexin ceftriaxone gentamicin phenobarbital valproic acid adolescent adult article autosomal dominant disorder child clinical article controlled study coproporphyria differential diagnosis disease severity enzyme deficiency erythropoietic protoporphyria gene mutation human porphyria porphyria cutanea tarda risk factor Melito, V.A. Rossetti, M.V. Parera, V.E. Batlle, A. Non frequent Porphyrias in the Argentinean population
topic_facet	Acute porphyrias Cutaneous porphyries Enzymes Heam Porphyrias cefalexin ceftriaxone gentamicin phenobarbital valproic acid adolescent adult article autosomal dominant disorder child clinical article controlled study coproporphyria differential diagnosis disease severity enzyme deficiency erythropoietic protoporphyria gene mutation human porphyria porphyria cutanea tarda risk factor
description	The Porphyrias are a group of diseases resulting from partial deficiencies in one of the heme biosynthetic enzymes. These disorders can be classified on the basis of their clinical manifestations or according the organ where the metabolic deficiency is mainly expressed. In general this enzyme deficiency is associated with mutations in the genes which codify each enzyme. There are 7 types of Porphyrias. They are autosomal dominant disorders with the exception of PCE, PHE and NPA which are recessive. However, some rare and severe cases with recessive inheritance have also been reported. The description of these infrequent cases and their treatments and evolution would make easier the differential diagnosis of Porphyrias as well as the therapeutic possibilities to be applied in each case. Moreover, it is very important the early identification and treatment of infantile heterozygous porphyrias to avoid the risks of associatedd complications. In the CIPYP we have diagnosed 5 cases of infantil Acute Porphyrias: 2 PAI, 2 PV and 1 CPH. In the group of Cutaneous Porphyrias we present 25 cases of infantil PCT, the first case of PHE in Argentina, 4 cases of infantil PCE and 1 adult PCE and 2 cases of PPE with hepatic failure.
format	JOUR
author	Melito, V.A. Rossetti, M.V. Parera, V.E. Batlle, A.
author_facet	Melito, V.A. Rossetti, M.V. Parera, V.E. Batlle, A.
author_sort	Melito, V.A.
title	Non frequent Porphyrias in the Argentinean population
title_short	Non frequent Porphyrias in the Argentinean population
title_full	Non frequent Porphyrias in the Argentinean population
title_fullStr	Non frequent Porphyrias in the Argentinean population
title_full_unstemmed	Non frequent Porphyrias in the Argentinean population
title_sort	non frequent porphyrias in the argentinean population
url	http://hdl.handle.net/20.500.12110/paper_03252787_v87_n4_p248_Melito
work_keys_str_mv	AT melitova nonfrequentporphyriasintheargentineanpopulation AT rossettimv nonfrequentporphyriasintheargentineanpopulation AT parerave nonfrequentporphyriasintheargentineanpopulation AT batllea nonfrequentporphyriasintheargentineanpopulation
_version_	1807316989627072512

Non frequent Porphyrias in the Argentinean population

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