Dèficit de C2 com a diagnòstic infreqüent d’immunodeficiència / Déficit de C2 como diagnóstico infrecuente de inmunodeficiencia / C2 deficit as an infrequent diagnosis of immunodeficiency

Introducció. El dèficit de complement C2 (DC2) és una immunodeficiència que predisposa a infeccions bacterianesque poden ser greus.Cas clínic. Es presenta el cas d’un nen de 15 anys diagnosticat de DC2 en el context de tres ingressos per infeccionsinvasives causades per bacteris encapsulats, tots amb evolució favorable. Es fa l’estudi d’immunodeficiències, enquè es detecta una alteració genètica compatible amb DC2tipus 1. El pacient va seguir una evolució correcta, senseinfeccions i sense presentar manifestacions de malaltia autoimmunitària o altres complicacions, amb un calendarivacunal actualitzat.Comentari. En pacients amb infeccions bacterianes recurrents i/o invasives s’ha de fer un estudi complet d’immunodeficiències, incloent-hi els defectes del complement. Eldiagnòstic precoç permet una protecció vacunal correcta,per prevenir i reduir la incidència d’infeccions bacterianespotencialment greus o invasives, a més de vigilar l’aparicióde signes i símptomes de malaltia autoimmunitària. (AU)

Introducción. El déficit de complemento (DC2) es una inmunodeficiencia que predispone a infecciones bacterianas que pueden sergraves.Caso clínico. Se presenta el caso de un niño de 15 años diagnosticado de DC2 a raíz de tres ingresos por infecciones invasivas causadas por bacterias encapsuladas, todas ellas con evolución favorable. Se realiza el estudio de inmunodeficiencias donde se detectauna alteración genética compatible con DC2 tipo 1. El paciente hatenido una correcta evolución, sin infecciones y sin presentar manifestaciones de enfermedad autoinmune u otras complicaciones,con un calendario vacunal actualizado.Comentario. En pacientes con infecciones bacterianas recurrentesy/o invasivas se realizará un estudio completo de inmunodeficiencias incluyendo los defectos del complemento. El diagnóstico precoz permite una correcta protección vacunal para prevenir y reducirla incidencia de infecciones bacterianas potencialmente graves oinvasivas. Es importante realizar un seguimiento clínico adecuado, una prevención de infecciones mediante la vacunación y vigilar laaparición de signos y síntomas de enfermedad autoinmune. (AU)

Introduction. C2 deficiency (C2D) is an immunodeficiency that predisposes to severe bacterial infections.Case report. The case of a 15-year-old boy diagnosed with C2Dfollowing three admissions for invasive infections caused by encapsulated bacteria is presented. Immunodeficiency evaluationdisclosed a genetic alteration compatible with C2D type 1. Thepatient had a favorable clinical course, without infections andwithout presenting manifestations of autoimmune disease or othercomplications with an updated vaccination schedule.Comments. In patients with recurrent and/or invasive bacterial infections a complete immunodeficiency evaluation should be performed, including complement defects. Early diagnosis allowsproper vaccine protection to prevent and reduce the incidence ofpotentially serious or invasive bacterial infections. It is importantto have proper clinical follow-up, prevention of infections throughvaccination, and monitoring for the onset of signs and symptomsof autoimmune disease. (AU)

1H-NMR Urinary Metabolic Profile, A Promising Tool for the Management of Infants with Human Cytomegalovirus-Infection.

Congenital human cytomegalovirus (HCMV) infection is the most common mother-to-child transmitted infection in the developed world. Certain aspects of its management remain a challenge. Urinary metabolic profiling is a promising tool for use in pediatric conditions. The aim of this study was to investigate the urinary metabolic profile in HCMV-infected infants and controls during acute care hospitalization. Urine samples were collected from 53 patients at five hospitals participating in the Spanish congenital HCMV registry. Thirty-one cases of HCMV infection and 22 uninfected controls were included. Proton nuclear magnetic resonance (1H-NMR) spectra were obtained using NOESYPR1D pulse sequence. The dataset underwent orthogonal projection on latent structures discriminant analysis to identify candidate variables affecting the urinary metabolome: HCMV infection, type of infection, sex, chronological age, gestational age, type of delivery, twins, and diet. Statistically significant discriminative models were obtained only for HCMV infection (p = 0.03) and chronological age (p < 0.01). No significant differences in the metabolomic profile were found between congenital and postnatal HCMV infection. When the HCMV-infected group was analyzed according to chronological age, a statistically significant model was obtained only in the neonatal group (p = 0.01), with the differentiating metabolites being betaine, glycine, alanine, and dimethylamine. Despite the considerable variation in urinary metabolic profiles in a real-life setting, clinical application of metabolomics to the study of HCMV infection seems feasible.

Evaluación de la calidad percibida en las intervenciones no restrictivas dentro de un programa pediátrico de optimización de antimicrobianos (PROA-NEN) / Evaluation of perceived quality in non-restrictive interventions within the antimicrobial stewardship program in pediatrics (PROA-NEN)

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