Macroamilasemia en pediatría / Macroamylasaemia in paediatrics

La macroamilasemia es una entidad que debe sospecharse ante cualquier paciente que presente concentraciones elevadas de amilasa plasmática sin datos clínicos ni de investigaciones complementarias que demuestren la existencia de una afección pancreática o parotídea. Se caracteriza por la elevación de amilasa plasmática debido a macrocomplejos circulantes de alto peso molecular, formados por una molécula de amilasa unida generalmente a una inmunoglobulina. En ausencia de enfermedad renal, una hiperamilasemia sin aumento de amilasuria orienta hacia este diagnóstico, que se confirma al identificar a los componentes de la macromolécula. Es una entidad infrecuente en pediatría. Se ha descrito como un hallazgo casual asociado a dolor abdominal y a enfermedad celíaca. Se presentan 2 casos pediátricos de macroamilasemia, así como las pruebas necesarias para su diagnóstico. El conocimiento de esta anomalía bioquímica permite distinguirla de otras situaciones que cursan con elevación de amilasa, con el fin de evitar exploraciones complementarias y tratamientos invasivos innecesarios (AU)

Macroamylasaemia should be considered in any patient with high plasma amylase, no clinical signs and negative additional investigations for pancreatic or parotid diseases. It is characterised by an increase in serum amylase due to circulating high molecular mass macrocomplexes, most often formed due the binding of the amylase to an immunoglobulin. With a normal renal function, a hyper-amylasaemia without an increase in urine amylase suggests the diagnosis, and is confirmed by identifying the macromolecular components. It is an uncommon entity in paediatrics. It has been described as a casual finding associated to abdominal pain and to celiac disease. We report two paediatric cases of macroamylasaemia, and a review of the tests needed for its diagnosis. The better understanding of this biochemical anomaly allows us to differentiate it from other situations associated to hiperamylasaemia, in order to avoid additional invasive explorations and unnecessary treatments (AU)

[Macroamylasaemia in paediatrics]. / Macroamilasemia en pediatría.

Macroamylasaemia should be considered in any patient with high plasma amylase, no clinical signs and negative additional investigations for pancreatic or parotid diseases. It is characterised by an increase in serum amylase due to circulating high molecular mass macrocomplexes, most often formed due the binding of the amylase to an immunoglobulin. With a normal renal function, a hyperamylasaemia without an increase in urine amylase suggests the diagnosis, and is confirmed by identifying the macromolecular components. It is an uncommon entity in paediatrics. It has been described as a casual finding associated to abdominal pain and to celiac disease. We report two paediatric cases of macroamylasaemia, and a review of the tests needed for its diagnosis. The better understanding of this biochemical anomaly allows us to differentiate it from other situations associated to hyperamylasaemia, in order to avoid additional invasive explorations and unnecessary treatments.

Glutathione and cysteine in HIV-infected hemophiliacs.

A cross-sectional study was designed to determine whether plasma concentrations of glutathione and cysteine in HIV-infected hemophiliacs vary according to the progression of the disease and to compare them with those obtained in HIV negative hemophiliacs. Cysteine, total glutathione and glutathione disulphide were measured in plasma of HIV-infected hemophiliacs at different stages of HIV infection and in plasma of HIV-negative hemophiliacs. CD4 and CD8 T-cell counts, leukocyte and lymphocyte counts, beta 2-microglobulin and p24 antigen values were recorded for HIV positive hemophiliacs at the time of the study. The hemophiliac HIV-positive group showed a decrease in total glutathione levels (-18%) and an increase of glutathione disulphide (8.18 vs. 14.90%) compared to the HIV-negative group. The cysteine levels found in HIV-positive hemophiliacs were not different from those found in the HIV-negative group. There were no differences with statistical significance in total glutathione, glutathione disulphide and cysteine among HIV-infected hemophiliacs according to the different clinical stage of the disease (AIDS vs. non-AIDS). The interest of evaluating plasma concentrations of glutathione and cysteine in HIV-infected patients is limited from the point of view of considering them as markers of progression of the disease. Interest in a therapeutic strategy designed to replenish or normalize glutathione plasma levels is also limited.