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Posted On : 14 May 2005

Dear colleagues,
I have a patient - 2 years old female child presented with itching in hot weather. Meanwhile she developed jaundice, LFTs revealed raised enzymes, HCV and Australian antigen were negative. I treated her symptomatically. After 3 weeks she presented with excessive cry, abdominal pain, vomiting and sudden appearence of severe pallor. I started IV Dextrose and referred to specialised centre for further investigations for the condition. Finally she was diagnosed as having burgandy coloured urine in sunlight and her corpo and uroporphrins were positive in urine. She had simmilar attacks after 1 month interval. Acute porphyria was the final diagnosis. There is no neurological sign, LFTs and ultrasound are normal for liver. She has splenomegaly. There is mild thrombocytopenia on CBC.
What I need to know is that is it congenital erythropoetic porphyria since this is the only type among eight types where urine contains both corpo and uro?

Expert Answer :

No expert answer available.

Answer Discussion :

sundaravadivel

acute intermittent porphyria

19 years ago

pediatriconcall

Increased uroporphyrins in urine and plasma and increased coproporphyrins in faeces is seen in patients with Porphyria cutanea tarda and Hepatoerythropoietic porphyria.
Porphyria cutanea tarda is the commonest form of porphyria in North America and Europe. It can occur as familial or sporadic. More than 70 Percent is associated with alcohol abuse and liver damage. It is due to deficiency of Uroporphyrinogen decarboxylase enzyme.
Hepatoerythropoietic porphyria is due to similar enzyme deficiency as in PCT but with less activity in the enzyme. Treatment consists of gene transfer, bone marrow transplant and plasmapheresis.

19 years ago

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