The very first description of a patient with hepatoerythropoietic porphyria in Argentina

GRANATA, BEATRIZ XOANA; PARERA, VICTORIA ESTELA; MELITO, VIVIANA ALICIA; TEIJO, MARÍA JULIETA; BATLLE, ALCIRA; ROSSETTI, MARÍA VICTORIA

CELLULAR AND MOLECULAR BIOLOGY

C.M.B. ASSOCIATION

Año: 2009 vol. 55 p. 61 - 65

0145-5680

Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It ischaracterized clinically by the early onset of severe skin manifestations which can be confused with CongenitalErythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe the case of a 14 year-old child withskin manifestations similar to those observed in PCT. The biochemical assays ruled out a CEP as well as they suggested thedevelopment of a HEP. Although his symptoms were not severe enough to be HEP, the enzymatic activity was dramaticallyreduced to a 5% of normal values and the molecular analysis revealed the presence of two already known different mutationson 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 thebrother. This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and lessresidual URO-D activity but associated to a mild phenotype.