Sánchez-Anzaldo FJ, Fernández-Macouzet M, Garza-de-la-Peña E, Ruiz-Argüelles GJ

Language: English
References: 9
Page: 185-187
PDF size: 57.44 Kb.

ABSTRACT

Background: There is very little information about the hereditary porphyrias in México; only four papers by Mexican authors on the topic could be identified.
Objective: To analyze the 28-year experience in the diagnosis and classification of hereditary porphyrias in a single institution in México (Laboratorios Clínicos de Puebla).
Material and methods: Between October 1983 and September 2010, the diagnosis and classification of the hereditary porphyrias was done using the following assays: Blood porphobilinogen deaminase, urine delta aminolevulinic acid, blood delta aminolevulinic dehydratase, urine porphobilinogen, urine uroporphyrins, urine coproporphyrins, fecal porphyrins and red blood cell free protoporphyrins.
Results: One hundred and forty seven cases of hereditary porphyrias were identified and classified:
n %
Acute intermitent porphyria 59 40
Variegate porphyria 36 25
Erythropoietic porphyria 22 15
Coproporphyria 17 12
Porphyria cutanea tarda 8 5
Protoporphyria
Conclusions: This is the largest series of patients with porphyria described in México; the distribution of the variants is not different of that informed from other places in the world.

REFERENCES

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