SciELO - Scientific Electronic Library Online

 
vol.41 número3Estabilidad de muestras conservadas en tubo primario: un estudio de 25 analitos de química clínicaUtilidad de la fosfatasa alcalina urinaria como marcador precoz de lesión tubular renal índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • En proceso de indezaciónCitado por Google
  • No hay articulos similaresSimilares en SciELO
  • En proceso de indezaciónSimilares en Google

Bookmark


Acta bioquímica clínica latinoamericana

versión On-line ISSN 1851-6114

Resumen

ROSSETTI, María Victoria; PARERA, Victoria Estela; MELITO, Viviana Alicia  y  BATLLE, Alcira. Congenital Erythropoietic Porphyria in Argentina: 4 children and one late onset case. Acta bioquím. clín. latinoam. [online]. 2007, vol.41, n.3, pp. 359-367. ISSN 1851-6114.

Porphyrias are metabolism disorders caused by a partial deficiency in one of the heme biosynthetic pathway enzymes. Congenital Erythropoietic Porphyria, also termed Günther disease, is extremely rare and is inherited as an autosomal recessive trait that results from the markedly deficient activity of the fourth enzyme in the heme biosynthetic pathway, Uroporphyrinogen III synthase (UROIII-S). This enzyme deficiency leads to an increased production and accumulation of the nonphysiological and phototoxic type I porphyrins responsible for the typical clinical manifestations. The disease severity is markedly heterogeneous, ranging from severe transfusion dependency throughout life to milder adult cases with only cutaneous photosensitivity. Only 200 cases have been described all over the world so far. In this work five Argentinean CEP patients are presented, 4 infantile and one late onset case, diagnosed in the CIPYP which are, as far as it is known, the only cases described in Argentina. Increased amounts of porphyrins were found in plasma, blood, urine and faeces, together with high amounts of the pathogenic type I isomer. Enzyme activity was reduced to 25-44% respect to normal values. Early diagnosis is important for correct treatment so as to prevent the characteristic mutilation of the disease and to improve patient´s life quality.

Palabras llave : heme; porphyrins; porphyrias; Congenital Erythropoietic Porphyria; uroporphyrinogen III synthase.

        · resumen en Español     · texto en Español     · pdf en Español