[Heterozygotic alpha-1 antitrypsin deficiency. A case report]. / Déficit heterozigótico de alfa-1-antitripsina. Presentación de un caso.

The clinical, analytical (including phenotypical) and histologic (optical and ultrastructural) data of a 34-years-old male patient attended for evaluation of moderate hypertransaminasemia discovered following a company screening examination. The existence of an alpha-1-antitrypsin heterozygotic deficit (MZ) was detected with flattening of the alpha wave in the proteinogram and a decreased serum level of this glycoprotein. Morpho-pathologically no PAS positive globules were optically found on liver biopsy although dilatation of the rough RE was observed with deposition in the medium electrodensity material, the significance of which is discussed on the basis of the patient's phenotype. It is suggested that serum studies of alpha-1-antitrypsin should be included in the routine evaluation of chronic liver diseases.

[Antineutrophil cytoplasmic antibodies and Wegener's granulomatosis]. / Anticuerpos anticitoplasma de neutrófilo y granulomatosis de Wegener.

In the presented case are described the clinic demonstrations, analytical and evolutionary in a diagnosed patient of Wegener Granulomatosis (WG). The biopsies practiced in the injuries of the nasal mucous and oral cavity demonstrated a necrotizing granulomatous vasculitis. The antineutrophil cytoplasmic antibodies with standard cytoplasmic (AANC-C) determined by immunofluorescence indirect were positive with a seric initial of 1:160 in the making negative to the sixty treatment days. The administration of the treatment coincided with an improvement meaningful clinic. We emphasize the scarce demonstration of the WG in the oral cavity as well as of the presentation histological described. Finally, we emphasize the growing importance of the AANC-C not only in the diagnosis of the disease but as specific marker of its activity.