Trasplante de progenitores hematopoyéticos en un paciente con enfermedad granulomatosa crónica en México

Abstract

Hematopoietic progenitors transplantation in a patient with chronic granulomatous disease in Mexico. AbstractThe incidence of chronic granulomatous disease in international reports is 1:250,000; however, in Mexico it is unknown. At the National Institute of Pediatrics of Mexico a project for facilitating the diagnosis of the disease was implemented by us in 2009. From the start of such project up to date 68 cases have been studied; 80% of those are X-linked forms (LX) and moreover, it has become noticeable the diagnosis at a younger age. The new challenge we are facing its to provide a successful treatment to those patients diagnosed with chronic granulomatous disease (CGD). We are reporting the case of a one-month old newborn patient diagnosed with CGD-LX that was successfully transplanted in Mexico.

Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report

“…1 Salmonella and BCG are the most frequently isolated microorganisms in Latin America in severe CGD infections. 1,4,5 However, in this case, the patient presented with severe infections caused by Aspergillus, Burkholderia, and secondary HLH, ultimately leading to a lethal outcome. In countries where BCG vaccination is still administered, the initial clinical manifestation of CGD is often adenitis at the BCG vaccination site, as observed in this case.…”

“…It is essential not only to diagnose CGD but also to determine its inheritance pattern and provide guidance to carriers, as they have an increased risk of autoimmune diseases. 3 CGD remains a poorly recognized disease, and it should be suspected in patients with recurrent infections, complications from BCG, and secondary HLH. Such cases require early and aggressive treatment to eliminate the triggering infectious agent and control the proinflammatory state.…”

“…2 In the United States, the frequency of CGD is estimated to be 1 in 200,000 new births. 3 Patients with CGD commonly exhibit diffuse granulomas, failure to thrive, abnormal scarring, hepatosplenomegaly, lymphadenitis, and severe infections. Additionally, they can experience serious complications, such as secondary hemophagocytic lymphohistiocytosis (HLH).…”

“…Additionally, they can experience serious complications, such as secondary hemophagocytic lymphohistiocytosis (HLH). 4 In this case presentation, we describe a patient with a severe early presentation of macrophage activation syndrome (MAS) and a history of recurrent infections leading to a lethal outcome.…”

Enfermedad granulomatosa crónica. Actualización y revisión

“…Otras ventajas de estas pruebas son su simplicidad, rapidez y costo-efectividad. 53 Terapia génica La terapia génica para células hematopoyéticas representa una alternativa atractiva al TCPH para pacientes con EGC sin un donante compatible, sin embargo, este tratamiento solo es realizado en Italia, Reino Unido, Francia y Estados Unidos. El procedimiento se realiza ex vivo mediante la corrección del defecto genético en células extraídas del paciente, cultivadas y modifi cadas genéticamente en el laboratorio.…”