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[Nephrologists and porphyrias].

C Canavese1, D Gabrielli, C Guida

  • 1Dipartimento di Medicina Interna, Cattedra di Nefrologia dell'Universita' di Torino, Torino. ccanavese@hotmail.com

Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia
|October 9, 2002
PubMed
Summary

Porphyrias are rare genetic disorders of heme metabolism caused by enzyme deficiencies. New diagnostic and therapeutic tools offer hope for managing these complex conditions.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Porphyrias are rare genetic disorders stemming from defects in heme biosynthesis.
  • These defects lead to the accumulation of toxic intermediate metabolites, causing various clinical symptoms.

Observation:

  • Clinical manifestations vary based on the specific enzyme deficiency, ranging from neurological dysfunction to photosensitive skin lesions.
  • Environmental factors like drugs, infections, and diet significantly influence disease expression in individuals with genetic predisposition.

Findings:

  • Biochemical diagnosis involves detecting accumulated metabolites (ALA, PBG, porphyrins) in biological fluids, though these can be absent during remission.
  • Specialized centers offer enzyme activity assays and DNA analysis for definitive diagnosis.

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  • The true prevalence of porphyrias remains unknown, with estimates varying widely.

    • Implications:

    • Advances in diagnostic and therapeutic strategies, including potential genetic therapies, hold promise for altering the natural history of porphyrias.
    • Current management focuses on avoiding triggers, symptomatic treatment, and supportive care such as carbohydrate loading and heme infusions.