ABSTRACT
INTRODUCTION: For many patients with primary immune deficiency (PID), stem-cell transplantation (SCT) may be life-saving. OBJECTIVE: To review our experience of 11 years transplanting children with PID in Mexico. METHODS: Chart review of patients who underwent SCT from 2008 to 2018, to describe their diagnoses, time to transplant, conditioning regime, survival rate and outcomes. All patients received post-transplant cyclophosphamide as graft-versus-host-disease (GVHD) prophylaxis. RESULTS: 19 patients with combined, phagocytic or syndromic PID from 5 states. Twelve of them were male (58%) and 14 survive (79%). Mean age at HSCT was 41.9 months; mean time from diagnosis was 31.2 months. Seven grafts were umbilical cord and 12 haploidentical. The conditioning regime was myeloablative, with five primary graft failures. Two patients had partial and 10 full chimerism. Five patients died within 2 months after transplant. Immune reconstitution was complete in 11 of 19 patients. We found a prevalence of 21% GVHD. DISCUSSION: We describe 19 patients from Mexico with 8 PID diagnoses who underwent allogenic HSCT over a period of 11 years. Survival rate and other outcomes compare well with industrialized countries. We recommend the use of post-transplant cyclophosphamide to prevent GVHD in scenarios of resource scarcity and a lack of HLA-identical donors.
Subject(s)
Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Primary Immunodeficiency Diseases , Child , Cyclophosphamide/therapeutic use , Graft vs Host Disease/prevention & control , Humans , Male , Mexico , Primary Immunodeficiency Diseases/therapy , Retrospective Studies , Transplantation ConditioningABSTRACT
Among lysosomal storage diseases, Gaucher disease depicts the highest rate of incidence, according with the international epidemiological reports. Gaucher disease is due to an impairing of the acid beta-glucosidase enzyme, since its lack promotes accumulation of the sphingolipid glucosylceramide at macrophages, leading to heterogeneous multiorganic damage (visceral, skeletal, and central nervous system affectation). This paper portrays a series of clinical cases of Gaucher disease with patients treated at the same city (Monterrey, Nuevo León), at the Paediatric Haematology Department of the Specialties General Hospital, UMAE 25, in Monterrey of the Instituto Mexicano del Seguro Social. Gaucher disease is symptomatic since early childhood in a good proportion of patients. The patients in this serie was treated with enzyme replacement therapy, and share the typical overall features of the disease.
Subject(s)
Gaucher Disease , Child, Preschool , Female , Gaucher Disease/diagnosis , Gaucher Disease/therapy , Humans , Infant , Male , Young AdultABSTRACT
Para determinar la prevalencia de anticuerpos contra el virus de la inmunodeficiencia humana (V.I.H.) en nuestros pacientes hemofílicos, se estudiaron mediante el método inmunoenzimático aquéllos cuya hemofília se considera de grado moderado o grave. De los 84 pacientes estudiados, 24 se encontraron positivos en dos determinaciones séricas, efectuándose además el examen ENVACORE resultando en todos ellos de nuevo positivo, para una prevalencia de 28.5%. Veinte de ellos se encuentran asintomáticos, tres presentan linfadenopatía crónica y uno síndrome febril, hepato-esplenomegalia y linfadenopatía. Consideramos que nuestra prevalencia es mucho menor que las informadas por otros autores. Ninguno de nuestros pacientes ha desarrollado el síndrome completo, lo que quizá dependa de exposiciones múltiples al V.I.H., intensidad y naturaleza de la respuesta de anticuerpos y de muchos otros factores aún no conocidos
Subject(s)
Humans , Antibodies, Viral/analysis , Hemophilia A/immunology , HIV/immunology , Immunoenzyme TechniquesABSTRACT
Un niño inició cuadros de púrpura trombocitopénica a los dos años de edad. Se pudo descartar tanto una forma hereditaria, como una condición determinada por anticuerpos antiplaquetarios. A los ocho años de edad presentó parálisis facial de tipo central y se pudo demostrar en la biopsia de médula ósea y en la encía, la presencia de trombos hialinos en la microvasculatura. La aplicación de plasma ha determinado la remisión de todos los brotes observados hasta el mes de mayo de 1985
