Porfirias poco frecuentes. Casos detectados en la población argentina

MELITO, VIVIANA; ROSSETTI, MARIA VICTORIA; PARERA, VICTORIA ESTELA; BATLLE, ALCIRA

Revista Aegentina de Dermatología

Asociación Argentina de Dermatología

Año: 2006 vol. 87 p. 248 - 263

0325-2787

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.           Key Words: Enzymes - Heam – Porphyrias – Acute Porphyrias – Cutaneous Porphyrias