Abstract:

PCT is the most common porphyria in adults, 16 cases of infantil Porphyria Cutanea Tarda (PCT) were studied in our institute. They represent 28% of the total number of cases described so far in the international literature and 3% of adult, PCT patients seen in our institute during the last 20 years. Biochemical data of a new case of infantil PCT (C.A., 9 years, female) and her family are presented. In a kidney transplanted 9 years-old girl with photosensitivity and hypertrichosis, the diagnosis of familial PCT was confirmed by the increase and characteristic pattern of urinary porphyrin excretion, diminished erythrocyte uroporphyrinogen decarboxylase (URO-D) and elevated plasma porphyrin index with maximal emission at 617-618 mm. URO-D was reduced to approximately 50% of normal in the child and in her sister; who did not exhibit clinical symptoms. The typical prophyrin urinary pattern of PCT was found in her asymptomatic father and it was normal in her mother and brother. The girl was undergoing hemodialysis since the age of 5. On April, 25th, 1990, at the age of 6, she was transplanted. One month later developed cutaneous fragility, hypertrichosis in the malar regions, blisters, crusts and scars on the dorsal of the hands and hyperpigmentation on the exposed areas. Pharmacos given for her extra corporeal dialysis (Ferrum) and transplantation (phenobarbital) have been very likely the triggering factors of her porphyria. Treatment with S-adenosyl-L-methionine (30 mg/kg/day) and low dose of oral chloroquine (2 x 100 mg) for only one week lead to clinical and biochemical improvement after 210 days.