Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

PURPOSE: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019. METHODS: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds. RESULTS: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations. CONCLUSIONS: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.

Latin American consensus on the supportive management of patients with severe combined immunodeficiency.

Severe combined immunodeficiency (SCID) represents the most lethal form of primary immunodeficiency, with mortality rates of greater than 90% within the first year of life without treatment. Hematopoietic stem cell transplantation and gene therapy are the only curative treatments available, and the best-known prognostic factors for success are age at diagnosis, age at hematopoietic stem cell transplantation, and the comorbidities that develop in between. There are no evidence-based guidelines for standardized clinical care for patients with SCID during the time between diagnosis and definitive treatment, and we aim to generate a consensus management strategy on the supportive care of patients with SCID. First, we gathered available information about SCID diagnostic and therapeutic guidelines, then we developed a document including diagnostic and therapeutic interventions, and finally we submitted the interventions for expert consensus through a modified Delphi technique. Interventions are grouped in 10 topic domains, including 123 "agreed" and 38 "nonagreed" statements. This document intends to standardize supportive clinical care of patients with SCID from diagnosis to definitive treatment, reduce disease burden, and ultimately improve prognosis, particularly in countries where newborn screening for SCID is not universally available and delayed diagnosis is the rule. Our work intends to provide a tool not only for immunologists but also for primary care physicians and other specialists involved in the care of patients with SCID.

Utilidad del captopril en el diagnóstico de la hipertensión renovascular / Utility of captopril in the diagnosis of the renovascular hypertension

Se presenta el caso de un adolescente de 15 años, con riñón único trasplantado, que desarrolló hipertensión arterial severa. Para su control, requirió combinaciones antihipertensivos cada vez más enérgicos. Cursó con crisis hupertensivas y encefalopatía en varias ocasiones. Se fundamentó una estenosis de la arteria de riñón trasplantado. Durante una crisis hipertensiva se administró captopril 25 mg por vía oral, lo que ocasionó insuficiencia renal aguda funcional y transitoria. Posteriormente, al no poderse controlar la nueva elevación de la TA, se reinició el captopril a dosis crecientes, propiciándose el deterioro de la función renal. El paciente fué operado con revascularización del riñón, con lo cual mejoró la perfusión renal y se controló la tensión arterial. Esto sugiere que el bloqueo del sistema renina-angiotensina abre las arteriolas eferentes, lo cual disminuye la presión de filtración y el filtrado glomerular, con la consecuente elevación de azoados, pero sin menoscabo en la circulación renal. Se propone el uso de este medicamente en pacientes trasplantados o con riñón único para seleccionar a los que deban ser sometidos a arteriografía renal al corroborarse la hipertensión de origen renovascular.

Lupus eritematoso sistémico de inicio infantil con manifestaciones de lupus profundo y alteraciones de la función pulmonar / Systemic lupus erythematosus of early appearance with manifestations of profund and pulmonary function involvement: study of one patient and review of the literature

Paciente femenina con lupus eritematoso sistémico y alteraciones de la función pulmonar que desarrolló manifestaciones cutáneas de lupus profundo. No se encontró en la literatura pediátrica revisada esta asociación. Se trató con esteroides de dosis bajas, cloroquina y ciclofosfamida con lo que desaparecieron todas las manifestaciones. La frecuencia de paniculitis lúpica en niños admitidos en el Instituto Nacional de Pediátria de 1970 a 1991 es del 1.4 por ciento, similar al 2 por ciento descrito en adultos

Poliarteritis nodosa sistémica en niños / Systemic poliarteritis nodosa in children

Se presenta una experiencia con diez niños afectados por poliarteritis nodosa sistémica (PAN). Lo más sobresaliente en todos fue la presentación polimórfica clínicamente, por laboratorio y en estudios de gabinete. Los datos más útiles fueron los de los sistemas renal, cardiovascular y aparato digestivo. Todos fueron tratados con esteroides y nueve con inmunodepresores combinados. Un paciente falleció por complicación infecciosa propiciada por inmunodepresores y factores predisponentes para infección. Uno más falleció por ruptura de aneurisma renal y otro más por insuficiencia renal y otro más por insuficiencia renal crónica. Siete pacientes aún viven. La sobrevida es de más de diez años.