Artículo

Cerbino, G.N.; Gerez, E.N.; Varela, L.S.; Melito, V.A.; Parera, V.E.; Batlle, A.; Rossetti, M.V. "Acute intermittent porphyria in argentina: An update" (2015) BioMed Research International. 2015
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Abstract:

Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour countries studied at molecular level at Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP). Thirty-five different mutations were found, of which 14 were described for the first time in our population. The most prevalent type of mutations was the missense mutations (43%) followed by splice defects (26%) and small deletions (20%). An odd case of a double heterozygous presentation of AIP in a foreign family from Paraguay is discussed. Moreover, it can be noted that 38 new families were found carrying the most frequent mutation in Argentina (p.G111R), increasing to 55.66% the prevalence of this genetic change in our population and adding further support to our previous hypothesis of a founder effect for this mutation in Argentina. Identification of patients with an overt AIP is important because treatment depends on an accurate diagnosis, but more critical is the identification of asymptomatic relatives to avoid acute attacks which may progress to death. © 2015 Gabriela Nora Cerbino et al.

Registro:

Documento: Artículo
Título:Acute intermittent porphyria in argentina: An update
Autor:Cerbino, G.N.; Gerez, E.N.; Varela, L.S.; Melito, V.A.; Parera, V.E.; Batlle, A.; Rossetti, M.V.
Filiación:Centro de Investigaciones Sobre Porfirinas y Porfirias (CIPYP), Hospital de Clínicas, Universidad de Buenos Aires (UBA), Buenos Aires, 1120, Argentina
Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (UBA), Buenos Aires, 1120, Argentina
Palabras clave:acute intermittent porphyria; adult; aged; Argentina; Article; clinical article; controlled study; electrophoresis; exon; family; female; founder effect; frameshift mutation; gene deletion; heterozygote; human; intron; male; middle aged; missense mutation; mutational analysis; nucleic acid base substitution; Paraguay; population; prevalence; reverse transcription polymerase chain reaction; single nucleotide polymorphism; splicing defect; young adult; clinical trial; family; genetics; mutation; Porphyria, Acute Intermittent; Adult; Aged; Argentina; Family; Female; Humans; Male; Middle Aged; Mutation; Porphyria, Acute Intermittent; Prevalence
Año:2015
Volumen:2015
DOI: http://dx.doi.org/10.1155/2015/946387
Título revista:BioMed Research International
Título revista abreviado:BioMed Res. Int.
ISSN:23146133
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_23146133_v2015_n_p_Cerbino

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Citas:

---------- APA ----------
Cerbino, G.N., Gerez, E.N., Varela, L.S., Melito, V.A., Parera, V.E., Batlle, A. & Rossetti, M.V. (2015) . Acute intermittent porphyria in argentina: An update. BioMed Research International, 2015.
http://dx.doi.org/10.1155/2015/946387
---------- CHICAGO ----------
Cerbino, G.N., Gerez, E.N., Varela, L.S., Melito, V.A., Parera, V.E., Batlle, A., et al. "Acute intermittent porphyria in argentina: An update" . BioMed Research International 2015 (2015).
http://dx.doi.org/10.1155/2015/946387
---------- MLA ----------
Cerbino, G.N., Gerez, E.N., Varela, L.S., Melito, V.A., Parera, V.E., Batlle, A., et al. "Acute intermittent porphyria in argentina: An update" . BioMed Research International, vol. 2015, 2015.
http://dx.doi.org/10.1155/2015/946387
---------- VANCOUVER ----------
Cerbino, G.N., Gerez, E.N., Varela, L.S., Melito, V.A., Parera, V.E., Batlle, A., et al. Acute intermittent porphyria in argentina: An update. BioMed Res. Int. 2015;2015.
http://dx.doi.org/10.1155/2015/946387