Document Detail

A rare case of porphyria.
MedLine Citation:
PMID:  15175780     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Congenital erythropoietic porphyria is one of the rare forms of an intriguing group of metabolic disorders known as porphyrias. Less than 200 cases have been reported in the literature. CLINICAL PRESENTATION: We report the case of a 27-year-old gentleman who had the clinical profile suggestive of porphyria, now presenting with anaemia. The type of porphyria was found to be congenital erythropoietic porphyria by biochemical assay and cause for anaemia was haemolysis, a well-known association with the erythropoietic porphyrias. TREATMENT: The management of porphyrias is essentially symptomatic. He was treated with blood transfusions and haematinics. CONCLUSION: The patient improved symptomatically and he is on regular followup. With the development of gene therapy, a specific cure for this rare type of porphyria is expected in the near future.
S C Maniangatt; J N Panicker; M Thomas; K Pavithran
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annals of the Academy of Medicine, Singapore     Volume:  33     ISSN:  0304-4602     ISO Abbreviation:  Ann. Acad. Med. Singap.     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-06-03     Completed Date:  2004-09-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7503289     Medline TA:  Ann Acad Med Singapore     Country:  Singapore    
Other Details:
Languages:  eng     Pagination:  359-61     Citation Subset:  IM    
Department of Medicine, Medical College, Thiruvananthapuram, Kerala, India.
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MeSH Terms
Porphyria, Erythropoietic* / diagnosis,  pathology

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