The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies
Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe...
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2009
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| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01455680_v55_n1_p61_Granata http://hdl.handle.net/20.500.12110/paper_01455680_v55_n1_p61_Granata |
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paper:paper_01455680_v55_n1_p61_Granata2023-06-08T15:12:27Z The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies Granata, Bárbara Xoana Parera, Victoria Estela Teijo, María Julieta Batlle, Alcira María del Carmen Rossetti, María Victoria Compound heterozygous Hepatoerythropoietic porphyria Mutations Uroporphyrinogen decarboxylase magnesium ion uroporphyrinogen decarboxylase adolescent anamnesis Argentina article case report chemical analysis clinical feature congenital erythropoietic porphyria enzyme activity enzyme assay exon genetic analysis hepatoerythropoietic porphyria heterozygosity heterozygote detection human male molecular biology point mutation porphyria cutanea tarda skin manifestation Adolescent Argentina DNA Mutational Analysis Humans Male Polymerase Chain Reaction Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe the case of a 14 year-old child with skin manifestations similar to those observed in PCT. The biochemical assays ruled out a CEP as well as they suggested the development of a HEP. Although his symptoms were not severe enough to be HEP, the enzymatic activity was dramatically reduced to a 5% of normal values and the molecular analysis revealed the presence of two already known different mutations on the patient's URO-D gene, c.703 C>T and IVS9-1. Each parent carry one of the mutations, but they were absent in the brother. This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and less residual URO-D activity but associated to a mild phenotype. Copyright © 2009 C.M.B. Edition. Fil:Granata, B.X. 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:Teijo, M.J. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Batlle, A.M.D.C. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2009 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01455680_v55_n1_p61_Granata http://hdl.handle.net/20.500.12110/paper_01455680_v55_n1_p61_Granata |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Compound heterozygous Hepatoerythropoietic porphyria Mutations Uroporphyrinogen decarboxylase magnesium ion uroporphyrinogen decarboxylase adolescent anamnesis Argentina article case report chemical analysis clinical feature congenital erythropoietic porphyria enzyme activity enzyme assay exon genetic analysis hepatoerythropoietic porphyria heterozygosity heterozygote detection human male molecular biology point mutation porphyria cutanea tarda skin manifestation Adolescent Argentina DNA Mutational Analysis Humans Male Polymerase Chain Reaction Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase |
| spellingShingle |
Compound heterozygous Hepatoerythropoietic porphyria Mutations Uroporphyrinogen decarboxylase magnesium ion uroporphyrinogen decarboxylase adolescent anamnesis Argentina article case report chemical analysis clinical feature congenital erythropoietic porphyria enzyme activity enzyme assay exon genetic analysis hepatoerythropoietic porphyria heterozygosity heterozygote detection human male molecular biology point mutation porphyria cutanea tarda skin manifestation Adolescent Argentina DNA Mutational Analysis Humans Male Polymerase Chain Reaction Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase Granata, Bárbara Xoana Parera, Victoria Estela Teijo, María Julieta Batlle, Alcira María del Carmen Rossetti, María Victoria The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies |
| topic_facet |
Compound heterozygous Hepatoerythropoietic porphyria Mutations Uroporphyrinogen decarboxylase magnesium ion uroporphyrinogen decarboxylase adolescent anamnesis Argentina article case report chemical analysis clinical feature congenital erythropoietic porphyria enzyme activity enzyme assay exon genetic analysis hepatoerythropoietic porphyria heterozygosity heterozygote detection human male molecular biology point mutation porphyria cutanea tarda skin manifestation Adolescent Argentina DNA Mutational Analysis Humans Male Polymerase Chain Reaction Porphyria, Hepatoerythropoietic Uroporphyrinogen Decarboxylase |
| description |
Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe the case of a 14 year-old child with skin manifestations similar to those observed in PCT. The biochemical assays ruled out a CEP as well as they suggested the development of a HEP. Although his symptoms were not severe enough to be HEP, the enzymatic activity was dramatically reduced to a 5% of normal values and the molecular analysis revealed the presence of two already known different mutations on the patient's URO-D gene, c.703 C>T and IVS9-1. Each parent carry one of the mutations, but they were absent in the brother. This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and less residual URO-D activity but associated to a mild phenotype. Copyright © 2009 C.M.B. Edition. |
| author |
Granata, Bárbara Xoana Parera, Victoria Estela Teijo, María Julieta Batlle, Alcira María del Carmen Rossetti, María Victoria |
| author_facet |
Granata, Bárbara Xoana Parera, Victoria Estela Teijo, María Julieta Batlle, Alcira María del Carmen Rossetti, María Victoria |
| author_sort |
Granata, Bárbara Xoana |
| title |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies |
| title_short |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies |
| title_full |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies |
| title_fullStr |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies |
| title_full_unstemmed |
The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies |
| title_sort |
very first description of a patient with hepatoerythropoietic porphyria in argentina. biochemical and molecular studies |
| publishDate |
2009 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01455680_v55_n1_p61_Granata http://hdl.handle.net/20.500.12110/paper_01455680_v55_n1_p61_Granata |
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| _version_ |
1768545182088691712 |