Importancia de la determinación de actividad enzimática en el diagnóstico del déficit de adenosina desaminasa 2 (DADA2) / Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2)

Objetivo: Describir la utilidad de la determinación de la actividad enzimática de adenosina desaminasa 2 (ADA2) en los pacientes con sospecha de déficit de ADA2 (DADA2).MétodoEstudio retrospectivo multicéntrico con análisis de los datos clínicos, bioquímicos y genéticos de los pacientes a los que se ha determinado la actividad enzimática de ADA2 mediante método espectrofotométrico.ResultadoEn tres de los 20 pacientes se confirmó el diagnóstico de DADA2 mediante la combinación de actividad enzimática reducida y variantes patogénicas bialélicas en el gen CECR1. En dos pacientes portadores de variantes de significado incierto en CECR1, el estudio de actividad enzimática permitió descartar la enfermedad.ConclusionesLa actividad enzimática reducida de ADA2 confirma el diagnóstico de DADA2, de especial importancia en los portadores de variantes de significado incierto en CECR1. (AU)

Objective: To describe the usefulness of determining the enzymatic activity of adenosine deaminase 2 (ADA2) in patients with suspected ADA2 deficiency (DADA2).MethodRetrospective multicenter study. Review with analysis of the clinical, biochemical and genetic data of the patients in whom the enzymatic activity of ADA2 has been determined by spectrophotometric method.ResultIn 3 of the 20 patients, the diagnosis of DADA2 was confirmed by the combination of reduced enzyme activity and biallelic pathogenic variants in the CECR1 gene. In 2 patients with variants of uncertain significance in CECR1, the study of enzymatic activity allowed to rule out the disease.ConclusionsThe reduced enzymatic detection of ADA2 confirms the diagnosis of DADA2, particularly important in carriers of variants of uncertain significance in CECR1. (AU)

Importance of the determination of enzymatic activity in the diagnosis of deficiency of adenosine deaminase 2 (DADA2). / Importancia de la determinación de actividad enzimática en el diagnóstico del déficit de adenosina desaminasa 2 (DADA2).

OBJECTIVE: To describe the usefulness of determining the enzymatic activity of adenosine deaminase 2 (ADA2) in patients with suspected ADA2 deficiency (DADA2). METHOD: Retrospective multicenter study. Review with analysis of the clinical, biochemical and genetic data of the patients in whom the enzymatic activity of ADA2 has been determined by spectrophotometric method. RESULT: In 3 of the 20 patients, the diagnosis of DADA2 was confirmed by the combination of reduced enzyme activity and biallelic pathogenic variants in the CECR1 gene. In 2 patients with variants of uncertain significance in CECR1, the study of enzymatic activity allowed to rule out the disease. CONCLUSIONS: The reduced enzymatic detection of ADA2 confirms the diagnosis of DADA2, particularly important in carriers of variants of uncertain significance in CECR1.