Asunto(s)

RESUMEN

X-linked agammaglobulinaemia (XLA) is a B cell humoral abnormality arising from mutations in the gene encoding Bruton's tyrosine kinase (Btk). The phenotype of XLA can be variable, with some individuals having a less severe immunophenotype, although in most cases this cannot be correlated with the Btk mutation or expression of Btk protein. In this study we describe clinical and immunological heterogeneity within the same pedigree. Analysis of the genetic defect identified a missense mutation in the kinase domain of Btk which, unusually, preserved Btk protein expression but at reduced levels, and also considerably diminished autophosphorylation activity. Structural analysis of the effect of this mutation on the kinase domain suggests that this mutation is not an integral part of the ATP or substrate binding domains but may affect the interaction of the kinase domain with its own kinase domain and other substrates. Together, these data may provide an explanation for the variable XLA phenotype.

Asunto(s)

RESUMEN

The present study was designed to investigate the prevalence of bacterial overgrowth in patients with exocrine pancreatic insufficiency by using the hydrogen breath test with glucose. Thus, in 30 patients with exocrine pancreatic insufficiency (in 15 due to chronic pancreatitis and in 15 associated to primary immunodeficiency), established by quantifying trypsin output before and after stimulation with cerulein using a duodenal perfusion technique, a glucose test was performed by administering 50 g of glucose and quantifying H2 in the breath by gas chromatography. The glucose test was positive in six of 15 patients with chronic pancreatitis but in only one of 15 immunodeficient patients (p < 0.05). Age, sex, etiology, time of evolution, associated diabetes, pancreatic calcifications, duodenal pH, or duodenal trypsin output did not differ between patients with and those without bacterial overgrowth. Previous gastroduodenal surgery was more common in chronic pancreatitis patients with overgrowth (six of six vs. four of nine; p < 0.05). Five patients with a positive glucose test were treated with antibiotics for 2 weeks and became negative in two of them. These results suggest that a positive glucose test indicating overgrowth is relatively common in exocrine pancreatic insufficiency due to chronic pancreatic, especially in patients with previous gastroduodenal surgery.

Asunto(s)

RESUMEN

BACKGROUND: The hepatic toxicity of antituberculous drugs used for the therapy of initial cases was evaluated, assessing the incidence and severity and its relation with each drug, age, other associated hepatic risks and the chronological time of therapy. METHODS: 1235 patients with tuberculosis were prospectively assessed with a protocol including periodical clinical and laboratory controls. RESULTS: Hepatic toxicity was found in overall 16.5%, with 3.5% of severe forms and need for a definitive change in therapy in 1.5%. Differences in toxicity between the 6-month and the 9-month schedules were not found. The most commonly incriminated drugs was isoniazid followed by pyrazinamide. All severe forms presented with symptoms, although some were nonspecific and insidious. Other associated hepatic risks implied an increased frequency of iatrogenic reactions. Age did not have a determining influence in severe forms, which predominantly developed within the first two months of therapy. CONCLUSIONS: Moderate, transient and asymptomatic increase in transaminase activity not requiring a change a therapy is common. Severe and dangerous forms are uncommon and predominate at the beginning of therapy and in persons with associated hepatic risk factors. Therefore, although the clinical controls should be maintained throughout treatment, laboratory controls should only be carried out during the first two months, except when symptoms are present or in patients with associated hepatic risk factors, where they should be more frequent and carried out throughout treatment.

Asunto(s)

RESUMEN

The most common feature of alpha1-antitrypsin (alpha 1 AT) deficiency is pulmonary emphysema, which becomes manifest in the third to fifth life decades in most subjects with PiZZ phenotype. In recent years, replacement therapy with alpha 1 AT from the plasma of blood donors has been developed. We report the protocol of treatment which has begun to be used in our center, now including two patients. We discuss inclusion criteria, the treatment schedules, the adverse side-effects and the future outlook for this type of therapy.

Asunto(s)

Asunto(s)

Asunto(s)

Asunto(s)

Asunto(s)

Asunto(s)